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Francesco Muntoni

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Valeria Ricotti; Deborah A Ridout; Stephanie A Robb; Elaine Scott; Adnan Y Manzur; Francesco Muntoni; Ros Quinlivan
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.
Elizabeth Stevens; Dimira E Tambunan; Silvia Torelli; Christopher A Walsh; Tobias Willer; Shu Yau; Diclehan Orhan; Mustafa A Salih; Caroline A Sewry; Derek Stemple; Lina Brodd; Kevin P Campbell; Keren J Carss; Sebahattin Cirak; William B Dobyns; Gregory M Enns; Lucy Feng; A Reghan Foley; Göknur Haliloglu; Matthew Hurles; Amanda Krause; Yung-Yao Lin; Melanie Manning; M Chiara Manzini; Francesco Muntoni
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
L Maggi; A Y Manzur; S A Robb; M Scoto; Caroline A Sewry; Stephen Abbs; S Cirak; T Cullup; L Feng; Heinz Jungbluth; A Klein; S Lillis; Francesco Muntoni
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

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2013: Valeria Ricotti; Deborah A Ridout; Stephanie A Robb; Elaine Scott; Adnan Y Manzur; Francesco Muntoni; Ros Quinlivan
Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.
Journal of neurology, neurosurgery, and psychiatry 2013;84(6):698-705.
2013: Elizabeth Stevens; Dimira E Tambunan; Silvia Torelli; Christopher A Walsh; Tobias Willer; Shu Yau; Diclehan Orhan; Mustafa A Salih; Caroline A Sewry; Derek Stemple; Lina Brodd; Kevin P Campbell; Keren J Carss; Sebahattin Cirak; William B Dobyns; Gregory M Enns; Lucy Feng; A Reghan Foley; Göknur Haliloglu; Matthew Hurles; Amanda Krause; Yung-Yao Lin; Melanie Manning; M Chiara Manzini; Francesco Muntoni
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
American journal of human genetics 2013;92(3):354-65.
2013: L Maggi; A Y Manzur; S A Robb; M Scoto; Caroline A Sewry; Stephen Abbs; S Cirak; T Cullup; L Feng; Heinz Jungbluth; A Klein; S Lillis; Francesco Muntoni
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.
Neuromuscular disorders : NMD 2013;23(3):195-205.
2013: Chalermchai Mitrpant; Francesco Muntoni; Paul Porensky; Loren Price; Steve D Wilton; Haiyan Zhou; Sue Fletcher; Arthur H M Burghes
Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy.
PloS one 2013;8(4):e62114.
2013: Sebahattin Cirak; Aileen Reghan Foley; Ralf Herrmann; Matt Hurles; Alisa Kamynina; Rudolf Korinthenberg; Cheryl Longman; Gianni Marrosu; Daniel Michele; Steven A Moore; Peter Nürnberg; Vincent Plagnol; Helen Roper; Caroline A Sewry; Elizabeth Stevens; Silvia Torelli; Thomas Voit; Petr Vondracek; Tobias Willer; Shu Yau; Lina Brodd; Kevin P Campbell; Francesco Muntoni
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain : a journal of neurology 2013;136(Pt 1):269-81.
2012: T Cullup; M S Damian; Victor Dubowitz; R Gooding; Nigel G Laing; P J Lamont; Francesco Muntoni; Caroline A Sewry; J Sheehan; S V Tan; W Wallefeld; Stephen Abbs; S Cirak; Heinz Jungbluth
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.
Neuromuscular disorders : NMD 2012;22(12):1096-104.
2012: Karen Anthony; Virginia Arechavala-Gomeza; Katherine Bushby; Sebahattin Cirak; Lucy Feng; Michela Guglieri; Jennifer Morgan; Volker Straub; Francesco Muntoni
Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen.
Human gene therapy methods 2012;23(5):336-45.
2012: Jacob Ross; Francesco Muntoni; Abigail Benn; Luisa Boldrin; Susan C Brown; Jane E Hewitt; Jacqueline Jonuschies; Jennifer E Morgan
Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse.
Stem cells (Dayton, Ohio) 2012;30(10):2330-41.
2012: Janel Johnson; Andre Megarbane; Francesco Muntoni; Amelie Pandraud; Mary M Reilly; Javier Simón-Sánchez; Yevgeniya Abramzon; Sampath Arepalli; Peter Clayton; A Reghan Foley; J Raphael Gibbs; Dena G Hernandez; Henry Houlden; J Andoni Urtizberea; Andrew B Singleton
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Brain : a journal of neurology 2012;135(Pt 9):2875-82.
2012: Luisa Boldrin; Francesco Muntoni; Alice Neal; Peter S Zammit; Jennifer E Morgan
Donor satellite cell engraftment is significantly augmented when the host niche is preserved and endogenous satellite cells are incapacitated.
Stem cells (Dayton, Ohio) 2012;30(9):1971-84.
2012: Virginia Arechavala-Gomeza; Lucy Feng; Jennifer E Morgan; Francesco Muntoni
Correspondence: Measuring dystrophin-faster is not necessarily better.
Nature reviews. Neurology 2012;8(8):469.
2012: Marika Pane; E Pegoraro; Antonella Pini; Filippo M Santorelli; R Scalise; Antonio Toscano; Gessica Vasco; Sonia Messina; M Moggio; Tiziana Mongini; Marina Mora; Lucia Morandi; Isabella Moroni; Francesco Muntoni; Angela Berardinelli; Enrico Bertini; F Bianco; Claudio Bruno; G Comi; Adele D'Amico; A R Foley; M E Lombardo; Eugenio Mercuri
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.
Neuromuscular disorders : NMD 2012;22(8):685-9.
2012: Eugenio Mercuri; Francesco Muntoni
The ever-expanding spectrum of congenital muscular dystrophies.
Annals of neurology 2012;72(1):9-17.
2012: Fatima Jaffer; Heinz Jungbluth; Francesco Muntoni; Sinéad M Murphy; Rahul Phadke; Sebastian Brandner; Estelle Healy; Alexander M Rossor; Mariacristina Scoto; Duygu Selcen; Mary M Reilly
BAG3 mutations: another cause of giant axonal neuropathy.
Journal of the peripheral nervous system : JPNS 2012;17(2):210-6.
2012: Virginia Arechavala-Gomeza; Jennifer Morgan; Karen Anthony; Francesco Muntoni
Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges.
Current gene therapy 2012;12(3):152-60.
2012: E M Clement; T Cullup; Lucy Feng; C Godfrey; Adnan Y Manzur; Rachael Mein; Eugenio Mercuri; Stephanie Robb; Caroline A Sewry; Stephen Abbs; Francesco Muntoni
Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001-2008.
Neuromuscular disorders : NMD 2012;22(6):522-7.
2012: Tobias Willer; Thomas L Winder; Takako Yoshida-Moriguchi; Sebahattin Cirak; Daniel Beltran Valero de Bernabe; William B Dobyns; Hane Lee; Andrea S Loder; Mark Lommel; Katherine D Mathews; Steven A Moore; Francesco Muntoni; Stanley F Nelson; Harry Schachter; Sabine Strahl; Jiri Vajsar; DP Venzke; Thomas Voit; Kevin P Campbell
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Nature genetics 2012;44(5):575-80.
2012: N Trump; J B G M Verheij; Stephen Abbs; T Cullup; A Manzur; Francesco Muntoni; Heinz Jungbluth
X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10.
Neuromuscular disorders : NMD 2012;22(5):384-8.
2012: Carl F Adkin; Susan Fletcher; Penelope L Meloni; Francesco Muntoni; Abbie M Adams; Brenda Wong; Steve D Wilton
Multiple exon skipping strategies to by-pass dystrophin mutations.
Neuromuscular disorders : NMD 2012;22(4):297-305.
2012: Sebahattin Cirak; Lucy Feng; Jennifer E Morgan; Karen Anthony; Virginia Arechavala-Gomeza; Caroline Sewry; Silvia Torelli; Francesco Muntoni
Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.
Molecular therapy : the journal of the American Society of Gene Therapy 2012;20(2):462-7.
2012: Sue Fletcher; Clayton Fragall; Kane Greer; Russell Johnsen; Ryszard Kole; Penny Meloni; Francesco Muntoni; Carl F Adkin; Brenda Wong; Steve D Wilton
Targeted exon skipping to address "leaky" mutations in the dystrophin gene.
Molecular therapy. Nucleic acids 2012;1():e48.
2012: Marcella Neri; Giovanni Perini; Claudio Rapezzi; Pietro Spitali; Emanuele Valli; Giovanna Alfano; Sandro Banfi; Matteo Bovolenta; Francesca Gualandi; Francesco Muntoni; Alessandra Ferlini
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.
BMC medical genetics 2012;13():20.
2011: Maria Elena Garralda; Michela Guglieri; Maria Kinali; Kate Bushby; Sebahattin Cirak; Volker Straub; Francesco Muntoni
Emotional impact of a paediatric exon-skipping therapy trial.
Developmental medicine and child neurology 2011;53(12):1157-9.
2011: J Uusimaa; Massimo Zeviani; C A Sewry; E P Treacy; J Birks; Garry K Brown; G Crisponi; L Feng; Carl Fratter; I Hughes; Heinz Jungbluth; M McDermott; Francesco Muntoni; Joanna Poulton
Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.
Journal of medical genetics 2011;48(10):660-8.
2011: Francesco Muntoni; Silvia Torelli; Dominic J Wells; Susan C Brown
Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.
Current opinion in neurology 2011;24(5):437-42.
2011: Mark R Ackroyd; Manuja Kaluarachchi; Ulrike Mayer; Francesco Muntoni; Margareta Nikolic; Sarah Prior; Charlotte Whitmore; Susan C Brown
Fukutin-related protein alters the deposition of laminin in the eye and brain.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2011;31(36):12927-35.
2011: Caroline Godfrey; Stephen Abbs; Emma Clement; Francesco Muntoni
Exclusion of WWP1 mutations in a cohort of dystroglycanopathy patients.
Muscle & nerve 2011;44(3):388-92.
2011: Andrea Klein; Suzanne Lillis; Eugenio Mercuri; Pinki Munot; Marika Pane; Ulrike Schara; Volker Straub; Elizabeth Wraige; Stephen Abbs; Emma Clement; Heinz Jungbluth; Francesco Muntoni
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.
Archives of neurology 2011;68(9):1171-9.
2011: Sebahattin Cirak; George Dickson; Lucy Feng; Maria Elena Garralda; Michela Guglieri; Ryszard Kole; Jennifer E Morgan; Stephen Abbs; Karen Anthony; Virginia Arechavala-Gomeza; John Bourke; Kate Bushby; Caroline Sewry; Stephen B Shrewsbury; Volker Straub; Silvia Torelli; Dominic J Wells; Stephen D Wilton; Matthew J A Wood; Francesco Muntoni
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.
Lancet 2011;378(9791):595-605.
2011: Gautam Ambegaonkar; Maria Kinali; Adnan Y Manzur; Stephanie A Robb; Francesco Muntoni
The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011;15(4):316-9.
2011: M Scoto; Caroline Sewry; M Pane; R M Quinlivan; S Robb; H Roper; Stephen Abbs; K Bushby; A-M Childs; G Chow; S Cirak; L Feng; M G Hanna; D H Jones; C Longman; M Main; Adnan Y Manzur; R Mein; E Mercuri; Francesco Muntoni
SEPN1-related myopathies: clinical course in a large cohort of patients.
Neurology 2011;76(24):2073-8.
2011: Stephanie A Robb; Caroline A Sewry; James Dowling; Lucy Feng; Tom Cullup; Sue Lillis; Stephen Abbs; Melissa M Lees; Jocelyn Laporte; Adnan Y Manzur; Ravi K Knight; Kerry R Mills; Michael G Pike; Wolfram Kress; David Beeson; Heinz Jungbluth; Matthew C Pitt; Francesco Muntoni
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.
Neuromuscular disorders : NMD 2011;21(6):379-86.
2011: Elena Mazzone; Flaviana Bianco; Domenico Martinelli; Allan M Glanzman; Sonia Messina; Marion Main; Michelle Eagle; Julaine Florence; Kristin Krosschell; Gessica Vasco; Marco Pelliccioni; Marilena Lombardo; Marika Pane; Richard Finkel; Francesco Muntoni; Enrico Bertini; Roberto De Sanctis; Eugenio Mercuri
Assessing upper limb function in nonambulant SMA patients: development of a new module.
Neuromuscular disorders : NMD 2011;21(6):406-12.
2011: Anna Mayhew; Francesco Muntoni; Elaine Scott; Kate Bushby; Stefan Cano; Michelle Eagle
Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy.
Developmental medicine and child neurology 2011;53(6):535-42.
2011: Caroline Godfrey; A Reghan Foley; Emma Clement; Francesco Muntoni
Dystroglycanopathies: coming into focus.
Current opinion in genetics & development 2011;21(3):278-85.
2011: Yuji Hara; Burcu Balci-Hayta; Takako Yoshida-Moriguchi; Motoi Kanagawa; Daniel Beltrán-Valero de Bernabé; Hülya Gündeşli; Tobias Willer; Jakob S Satz; Robert W Crawford; Steven J Burden; Stefan Kunz; Michael B A Oldstone; Alessio Accardi; Beril Talim; Francesco Muntoni; Haluk Topaloğlu; Pervin Dinçer; Kevin P Campbell
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
The New England journal of medicine 2011;364(10):939-46.
2011: Alberto Malerba; Paul S Sharp; Ian R Graham; Virginia Arechavala-Gomeza; Keith Foster; Francesco Muntoni; Dominic J Wells; George Dickson
Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice.
Molecular therapy : the journal of the American Society of Gene Therapy 2011;19(2):345-54.
2011: Susan Treves; Mirko Vukcevic; Pierre-Yves Jeannet; Soledad Levano; Thierry Girard; Albert Urwyler; Dirk Fischer; Thomas Voit; Heinz Jungbluth; Sue Lillis; Francesco Muntoni; Ros Quinlivan; Anna Sarkozy; Kate Bushby; Francesco Zorzato
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
Human molecular genetics 2011;20(3):589-600.
2011: M Kinali; Virginia Arechavala-Gomeza; S Cirak; A Glover; M Guglieri; L Feng; K G Hollingsworth; D Hunt; Heinz Jungbluth; H P Roper; R M Quinlivan; J A Gosalakkal; S Jayawant; A Nadeau; L Hughes-Carre; A Y Manzur; E Mercuri; Jennifer E Morgan; V Straub; K Bushby; Caroline Sewry; M Rutherford; Francesco Muntoni
Muscle histology vs MRI in Duchenne muscular dystrophy.
Neurology 2011;76(4):346-53.
2011: Jinhong Meng; Carl F Adkin; Shi-wen Xu; Francesco Muntoni; Jennifer E Morgan
Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice.
PloS one 2011;6(3):e17454.
2011: Valeria Ricotti; Roland G Roberts; Francesco Muntoni
Dystrophin and the brain.
Developmental medicine and child neurology 2011;53(1):12.
2011: Jinhong Meng; Francesco Muntoni; Jennifer E Morgan
Stem cells to treat muscular dystrophies - where are we?
Neuromuscular disorders : NMD 2011;21(1):4-12.
2011: Joy Read; Maria Kinali; Francesco Muntoni; Timothy Weaver; M Elena Garralda
Siblings of young people with Duchenne muscular dystrophy--a qualitative study of impact and coping.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011;15(1):21-8.
2010: P Munot; D Lashley; Heinz Jungbluth; L Feng; M Pitt; S A Robb; J Palace; S Jayawant; R Kennet; D Beeson; T Cullup; Stephen Abbs; N Laing; C Sewry; Francesco Muntoni
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.
Neuromuscular disorders : NMD 2010;20(12):796-800.
2010: Mary M Reilly; chris hall; Francesco Muntoni; D Pareyson
168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT).
Neuromuscular disorders : NMD 2010;20(12):839-46.
2010: Stephanie A Robb; Francesco Muntoni; Anita K Simonds
Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK.
Neuromuscular disorders : NMD 2010;20(12):833-8.
2010: Sarah Forrest; Penny L Meloni; Francesco Muntoni; Jihee Kim; Sue Fletcher; Stephen D Wilton
Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations.
Neuromuscular disorders : NMD 2010;20(12):810-6.
2010: Luisa Boldrin; Francesco Muntoni; Jennifer E Morgan
Are human and mouse satellite cells really the same?
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2010;58(11):941-55.
2010: Joy Read; Anita K Simonds; Maria Kinali; Francesco Muntoni; M Elena Garralda
Sleep and well-being in young men with neuromuscular disorders receiving non-invasive ventilation and their carers.
Neuromuscular disorders : NMD 2010;20(7):458-63.
2010: Joy Read; Maria Kinali; Francesco Muntoni; M Elena Garralda
Psychosocial adjustment in siblings of young people with Duchenne muscular dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2010;14(4):340-8.
2010: Virginia Arechavala-Gomeza; Maria Kinali; L Feng; S C Brown; Caroline Sewry; Jennifer E Morgan; Francesco Muntoni
Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression.
Neuropathology and applied neurobiology 2010;36(4):265-74.
2010: Virginia Arechavala-Gomeza; Maria Kinali; Lucy Feng; Michela Guglieri; Geraldine Edge; Marion Main; David Hunt; Jan Lehovsky; Volker Straub; Kate Bushby; Caroline A Sewry; Jennifer E Morgan; Francesco Muntoni
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials.
Neuromuscular disorders : NMD 2010;20(5):295-301.
2010: Francesco Muntoni
The development of antisense oligonucleotide therapies for Duchenne muscular dystrophy: report on a TREAT-NMD workshop hosted by the European Medicines Agency (EMA), on September 25th 2009.
Neuromuscular disorders : NMD 2010;20(5):355-62.
2010: Fatemeh Geranmayeh; Emma Clement; Lucy H Feng; Caroline Sewry; Judith Pagan; Rachael Mein; Stephen Abbs; Louise A Brueton; Anne-Marie Childs; Heinz Jungbluth; Christian G De Goede; Bryan Lynch; Jean-Pierre Lin; Gabriel Chow; Carlos de Sousa; Olivia O'Mahony; Anirban Majumdar; Volker Straub; Katherine Bushby; Francesco Muntoni
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Neuromuscular disorders : NMD 2010;20(4):241-50.
2010: Haiyan Zhou; Suzanne Lillis; Ryan E Loy; Farshid Ghassemi; Michael R Rose; Fiona Norwood; Kerry Mills; Safa Al-Sarraj; Russell J M Lane; Lucy Feng; Emma Matthews; Caroline A Sewry; Stephen Abbs; Stefan Buk; Michael Hanna; Susan Treves; Robert T Dirksen; Gerhard Meissner; Francesco Muntoni; Heinz Jungbluth
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
Neuromuscular disorders : NMD 2010;20(3):166-73.
2010: Eugenio Mercuri; Emma Clements; Amaka Offiah; Anna Pichiecchio; Gessica Vasco; Flaviana Bianco; Angela Berardinelli; Adnan Manzur; Marika Pane; Sonia Messina; Francesca Gualandi; Enzo Ricci; Mary Rutherford; Francesco Muntoni
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.
Annals of neurology 2010;67(2):201-8.
2010: Linda J Popplewell; Carl Adkin; Virginia Arechavala-Gomeza; Aartsma-Rus Annemieke; Christa L de Winter; Steve D Wilton; Jennifer E Morgan; Francesco Muntoni; Ian R Graham; George Dickson
Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials.
Neuromuscular disorders : NMD 2010;20(2):102-10.
2010: Gemma L Walmsley; Virginia Arechavala-Gomeza; Marta Fernandez-Fuente; Margaret M Burke; Nicole Nagel; Angela Holder; Rachael Stanley; Kate Chandler; Stanley L Marks; Francesco Muntoni; G Diane Shelton; Richard J Piercy
A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.
PloS one 2010;5(1):e8647.
2010: Jinhong Meng; Carl F Adkin; Virginia Arechavala-Gomeza; Luisa Boldrin; Francesco Muntoni; Jennifer E Morgan
The contribution of human synovial stem cells to skeletal muscle regeneration.
Neuromuscular disorders : NMD 2010;20(1):6-15.
2009: Adnan Y Manzur; Francesco Muntoni
Diagnosis and new treatments in muscular dystrophies.
Postgraduate medical journal 2009;85(1009):622-30.
2009: Maria Kinali; Virginia Arechavala-Gomeza; Lucy Feng; Sebahattin Cirak; David Hunt; Carl Adkin; Michela Guglieri; Emma Ashton; Stephen Abbs; Petros Nihoyannopoulos; Maria Elena Garralda; Mary Rutherford; Caroline McCulley; Linda Popplewell; Ian R Graham; George Dickson; Matthew J A Wood; Dominic J Wells; Steve D Wilton; Ryszard Kole; Volker Straub; Kate Bushby; Caroline Sewry; Jennifer E Morgan; Francesco Muntoni
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study.
Lancet neurology 2009;8(10):918-28.
2009: Luisa Boldrin; Peter Steven Zammit; Francesco Muntoni; Jennifer Elizabeth Morgan
Mature adult dystrophic mouse muscle environment does not impede efficient engrafted satellite cell regeneration and self-renewal.
Stem cells (Dayton, Ohio) 2009;27(10):2478-87.
2009: Cecilia Jimenez-Mallebrera; Silvia Torelli; Lucy Feng; Jihee Kim; Caroline Godfrey; Emma Clement; Rachael Mein; Stephen Abbs; Susan C Brown; Kevin P Campbell; Stephan Kröger; Beril Talim; Haluk Topaloglu; Ros Quinlivan; Helen Roper; Anne M Childs; Maria Kinali; Caroline A Sewry; Francesco Muntoni
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Brain pathology (Zurich, Switzerland) 2009;19(4):596-611.
2009: Chalermchai Mitrpant; Abbie M Adams; Penny L Meloni; Francesco Muntoni; Sue Fletcher; Stephen D Wilton
Rational design of antisense oligomers to induce dystrophin exon skipping.
Molecular therapy : the journal of the American Society of Gene Therapy 2009;17(8):1418-26.
2009: A Nadeau; M Kinali; M Main; C Jimenez-Mallebrera; A Aloysius; E Clement; B North; A Y Manzur; S A Robb; E Mercuri; Francesco Muntoni
Natural history of Ullrich congenital muscular dystrophy.
Neurology 2009;73(1):25-31.
2009: Adnan Y Manzur; Francesco Muntoni
Diagnosis and new treatments in muscular dystrophies.
Journal of neurology, neurosurgery, and psychiatry 2009;80(7):706-14.
2009: Eugenio Mercuri; Adnan Manzur; Marion Main; Joanna Alsopp; Francesco Muntoni
Is there post-natal muscle growth in amyoplasia? A sequential MRI study.
Neuromuscular disorders : NMD 2009;19(6):444-5.
2009: Francesco Muntoni; P Guicheney; T Voit
158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th-10th February 2008 Naarden, The Netherlands.
Neuromuscular disorders : NMD 2009;19(3):229-34.
2009: Joachim Schessl; Ana L Taratuto; Caroline Sewry; Roberta Battini; Steven S Chin; Baijayanta Maiti; Alberto L Dubrovsky; Marcela G Erro; Graciela Espada; Monica Robertella; Maria Saccoliti; Patricia Olmos; Leslie R Bridges; Peter Standring; Ying Hu; Yaqun Zou; Kathryn J Swoboda; Mena Scavina; Hans-Hilmar Goebel; Christina A Mitchell; Kevin M Flanigan; Francesco Muntoni; Carsten G Bönnemann
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Brain : a journal of neurology 2009;132(Pt 2):452-64.
2009: M R Ackroyd; L Skordis; M Kaluarachchi; J Godwin; S Prior; M Fidanboylu; R J Piercy; Francesco Muntoni; S C Brown
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
Brain : a journal of neurology 2009;132(Pt 2):439-51.
2009: D Hicks; A K Lampe; Steven H Laval; V Allamand; C Jimenez-Mallebrera; M C Walter; Francesco Muntoni; S Quijano-Roy; P Richard; Volker Straub; H Lochmüller; K M D Bushby
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
Brain : a journal of neurology 2009;132(Pt 1):147-55.
2008: Susan C Brown; Richard J Piercy; Francesco Muntoni; Caroline A Sewry
Investigating the pathology of Emery-Dreifuss muscular dystrophy.
Biochemical Society transactions 2008;36(Pt 6):1335-8.
2008: Amelie Nadeau; Francesco Muntoni
Skin changes in Ullrich congenital muscular dystrophy.
Neuromuscular disorders : NMD 2008;18(12):982.
2008: Eugenio Mercuri; A Mayhew; Francesco Muntoni; Sonia Messina; Volker Straub; G J Van Ommen; Thomas Voit; Enrico Bertini; Kate Bushby
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France.
Neuromuscular disorders : NMD 2008;18(11):894-903.
2008: Francesco Muntoni; Silvia Torelli; Martin Brockington
Muscular dystrophies due to glycosylation defects.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2008;5(4):627-32.
2008: Caroline A Sewry; Cecilia Jimenez-Mallebrera; Francesco Muntoni
Congenital myopathies.
Current opinion in neurology 2008;21(5):569-75.
2008: Anthony Otto; Corina Schmidt; Graham N Luke; Steve Allen; Petr Valasek; Francesco Muntoni; Diana Lawrence-Watt; Ketan Patel
Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration.
Journal of cell science 2008;121(Pt 17):2939-50.
2008: Andrea Klein; Emma Clement; Eugenio Mercuri; Francesco Muntoni
Differential diagnosis of congenital muscular dystrophies.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(5):371-7.
2008: Susana Quijano-Roy; Blaise Mbieleu; Carsten G Bönnemann; Pierre-Yves Jeannet; Jaume Colomer; Nigel F Clarke; Jean-Marie Cuisset; Helen Roper; Linda De Meirleir; Adele D'Amico; Rabah Ben Yaou; Andrés Nascimento; Annie Barois; Laurence Demay; Enrico Bertini; Ana Ferreiro; Caroline A Sewry; Norma B Romero; Monique Ryan; Francesco Muntoni; Pascale Guicheney; Pascale Richard; Gisèle Bonne; Brigitte Estournet
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Annals of neurology 2008;64(2):177-86.
2008: Marika Pane; Susanna Staccioli; Sonia Messina; Adele D'Amico; Marco Pelliccioni; Elena S Mazzone; Marina Cuttini; Paolo Alfieri; R Battini; Marion Main; Francesco Muntoni; Enrico Bertini; Marcello Villanova; Eugenio Mercuri
Daily salbutamol in young patients with SMA type II.
Neuromuscular disorders : NMD 2008;18(7):536-40.
2008: A K Lampe; Yaqun Zou; D Sudano; K K O'Brien; D Hicks; S H Laval; R Charlton; C Jimenez-Mallebrera; Rui-Zhu Zhang; Richard S Finkel; Gihan I. Tennekoon; G Schreiber; M S van der Knaap; H Marks; V Straub; K M Flanigan; Mon-Li Chu; Francesco Muntoni; K M D Bushby; Carsten G Bönnemann
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Human mutation 2008;29(6):809-22.
2008: Susan Treves; Heinz Jungbluth; Francesco Muntoni; Francesco Zorzato
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
Current opinion in pharmacology 2008;8(3):319-26.
2008: Joachim Schessl; Yaqun Zou; Meagan J McGrath; Belinda Cowling; Baijayanta Maiti; Steven S Chin; Caroline Sewry; Roberta Battini; Ying Hu; Denny Luke Cottle; Michael Rosenblatt; Lynn Spruce; Arupa Ganguly; Janbernd Kirschner; Alexander R Judkins; Jeffrey A Golden; Hans-Hilmar Goebel; Francesco Muntoni; Kevin M Flanigan; Christina A Mitchell; Carsten G Bönnemann
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
The Journal of clinical investigation 2008;118(3):904-12.
2008: Francesco Muntoni; Kate D Bushby; Gertjan van Ommen
149th ENMC International Workshop and 1st TREAT-NMD Workshop on: "planning phase i/ii clinical trials using systemically delivered antisense oligonucleotides in duchenne muscular dystrophy".
Neuromuscular disorders : NMD 2008;18(3):268-75.
2008: Matteo Bovolenta; Marcella Neri; Sergio Fini; Marina Fabris; Cecilia Trabanelli; Anna Venturoli; Elena Martoni; Elena Bassi; Pietro Spitali; Simona Brioschi; Maria S Falzarano; Paola Rimessi; Roberto Ciccone; Emma Ashton; Joanne McCauley; Shu C Yau; Stephen Abbs; Francesco Muntoni; Luciano Merlini; Francesca Gualandi; Alessandra Ferlini
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.
BMC genomics 2008;9():572.
2008: Emma M Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C Brown; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Cheryl Longman; Rachael Mein; Stephen Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Archives of neurology 2008;65(1):137-41.
2007: Francesco Muntoni; Martin Brockington; C Godfrey; M Ackroyd; Stephanie Robb; Adnan Y Manzur; Maria Kinali; Eugenio Mercuri; M Kaluarachchi; Lucy Feng; Cecilia Jimenez-Mallebrera; E Clement; Silvia Torelli; Caroline A Sewry; Susan C Brown
Muscular dystrophies due to defective glycosylation of dystroglycan.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2007;26(3):129-35.
2007: Marcella Neri; Silvia Torelli; Sue Brown; Isabella Ugo; Patrizia Sabatelli; Luciano Merlini; Pietro Spitali; Paola Rimessi; Francesca Gualandi; Caroline Sewry; Alessandra Ferlini; Francesco Muntoni
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.
Neuromuscular disorders : NMD 2007;17(11-12):913-8.
2007: Francesco Muntoni; Dominic Wells
Genetic treatments in muscular dystrophies.
Current opinion in neurology 2007;20(5):590-4.
2007: Caroline Godfrey; Emma Clement; Rachael Mein; Martin Brockington; Janine Smith; Beril Talim; Volker Straub; Stephanie Robb; Ros Quinlivan; Lucy Feng; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Adnan Y Manzur; Maria Kinali; Silvia Torelli; Susan C Brown; Caroline A Sewry; Kate Bushby; Haluk Topaloglu; Kathryn North; Stephen Abbs; Francesco Muntoni
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain : a journal of neurology 2007;130(Pt 10):2725-35.
2007: Virginia Arechavala-Gomeza; Ian R Graham; L J Popplewell; A M Adams; Aartsma-Rus Annemieke; Maria Kinali; Jennifer E Morgan; Judith C T van Deutekom; Stephen D Wilton; George Dickson; Francesco Muntoni
Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle.
Human gene therapy 2007;18(9):798-810.
2007: Haiyan Zhou; Heinz Jungbluth; Caroline A Sewry; Lucy Feng; Enrico Bertini; Kate Bushby; Volker Straub; Helen Roper; Michael R Rose; Martin Brockington; Maria Kinali; Adnan Y Manzur; Stephanie Robb; Richard E Appleton; Sonia Messina; Adele D'Amico; Ros Quinlivan; Michael Swash; Clemens R Müller; Susan Brown; Susan Treves; Francesco Muntoni
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Brain : a journal of neurology 2007;130(Pt 8):2024-36.
2007: Petra Kaufmann; Francesco Muntoni
Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design.
Neuromuscular disorders : NMD 2007;17(6):499-505.
2007: Gian Paolo Ramelli; Annie Aloysius; Caroline King; Trak Davis; Francesco Muntoni
Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome.
Developmental medicine and child neurology 2007;49(5):367-71.
2007: Maria Kinali; Marion Main; J Eliahoo; Sonia Messina; R K Knight; J Lehovsky; G Edge; Eugenio Mercuri; Adnan Y Manzur; Francesco Muntoni
Predictive factors for the development of scoliosis in Duchenne muscular dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2007;11(3):160-6.
2007: Heinz Jungbluth; Haiyan Zhou; Caroline A Sewry; Stephanie Robb; Susan Treves; Marc Bitoun; Pascale Guicheney; Anna Buj-Bello; Carsten G Bönnemann; Francesco Muntoni
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Neuromuscular disorders : NMD 2007;17(4):338-45.
2007: Richard J Piercy; Haiyan Zhou; Lucy Feng; Ana Pombo; Francesco Muntoni; Susan C Brown
Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuromuscular disorders : NMD 2007;17(4):297-305.
2007: Marion Main; Eugenio Mercuri; Göknur Haliloglu; Ros Baker; Maria Kinali; Francesco Muntoni
Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?
Neuromuscular disorders : NMD 2007;17(3):227-30.
2007: Eugenio Mercuri; Anna Pichiecchio; Joanna M Allsop; Sonia Messina; Marika Pane; Francesco Muntoni
Muscle MRI in inherited neuromuscular disorders: past, present, and future.
Journal of magnetic resonance imaging : JMRI 2007;25(2):433-40.
2007: L Hartley; Maria Kinali; R Knight; Eugenio Mercuri; C Hubner; E Bertini; Adnan Y Manzur; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Francesco Muntoni
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.
Neuromuscular disorders : NMD 2007;17(2):174-9.
2007: Francesco Zorzato; Heinz Jungbluth; Haiyan Zhou; Francesco Muntoni; Susan Treves
Functional effects of mutations identified in patients with multiminicore disease.
IUBMB life 2007;59(1):14-20.
2006: Paul A James; zameel cader; Francesco Muntoni; A-M Childs; Yanick J Crow; Kevin Talbot
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
Neurology 2006;67(9):1710-2.
2006: Caroline Godfrey; Diana Escolar; Martin Brockington; Emma M Clement; Rachael Mein; Cecilia Jimenez-Mallebrera; Silvia Torelli; Lucy Feng; Susan C Brown; Caroline A Sewry; Mary Rutherford; Yehuda Shapira; Stephen Abbs; Francesco Muntoni
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Annals of neurology 2006;60(5):603-10.
2006: Haiyan Zhou; Martin Brockington; Heinz Jungbluth; David Monk; Philip Stanier; Caroline A Sewry; Gudrun E Moore; Francesco Muntoni
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
American journal of human genetics 2006;79(5):859-68.
2006: Maria Kinali; Adnan Y Manzur; Eugenio Mercuri; B E Gibson; L Hartley; Anita K Simonds; Francesco Muntoni
UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy.
Pediatric rehabilitation 2006;9(4):351-64.
2006: Cecilia Jimenez-Mallebrera; M A Maioli; J Kim; Susan C Brown; Lucy Feng; Anne Lampe; Kate Bushby; D Hicks; Kevin M Flanigan; Carsten G Bönnemann; Caroline A Sewry; Francesco Muntoni
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
Neuromuscular disorders : NMD 2006;16(9-10):571-82.
2006: Vilma-Lotta Lehtokari; Katarina Pelin; Maria Sandbacka; Sirpa Ranta; Kristian Donner; Francesco Muntoni; Caroline Sewry; Corrado Angelini; Kate Bushby; Peter Van den Bergh; Susan T Iannaccone; Nigel G Laing; Carina Wallgren-Pettersson
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Human mutation 2006;27(9):946-56.
2006: M Elena Garralda; Francesco Muntoni; Anna Cunniff; Angeles Diaz Caneja
Knee-ankle-foot orthosis in children with duchenne muscular dystrophy: user views and adjustment.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2006;10(4):186-91.
2006: Eugenio Mercuri; Adele D'Amico; Alessandra Tessa; Angela Berardinelli; Marika Pane; Sonia Messina; J van Reeuwijk; Enrico Bertini; Francesco Muntoni; Filippo M Santorelli
POMT2 mutation in a patient with 'MEB-like' phenotype.
Neuromuscular disorders : NMD 2006;16(7):446-8.
2006: Maria Kinali; Sonia Messina; Eugenio Mercuri; J Lehovsky; G Edge; Adnan Y Manzur; Francesco Muntoni
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study.
Developmental medicine and child neurology 2006;48(6):513-8.
2006: Francesco Muntoni; Gisèle Bonne; Lev G Goldfarb; Eugenio Mercuri; Richard J Piercy; M Burke; R Ben Yaou; Pascale Richard; D Récan; Alexey Shatunov; Caroline A Sewry; Susan C Brown
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Brain : a journal of neurology 2006;129(Pt 5):1260-8.
2006: Sylvie Ducreux; Francesco Zorzato; Ana Ferreiro; Heinz Jungbluth; Francesco Muntoni; Nicole Monnier; Clemens R Müller; Susan Treves
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
The Biochemical journal 2006;395(2):259-66.
2006: Francesca Gualandi; Paola Rimessi; Cecilia Trabanelli; Pietro Spitali; Marcella Neri; Tomaso Patarnello; Corrado Angelini; Shu C Yau; Stephen Abbs; Francesco Muntoni; Elisa Calzolari; Alessandra Ferlini
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene.
Gene 2006;370():26-33.
2006: Francesco Muntoni; Kate Bushby; Adnan Y Manzur
Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK.
Neuromuscular disorders : NMD 2006;16(3):210-9.
2006: Eugenio Mercuri; Haluk Topaloglu; Martin Brockington; Angela Berardinelli; Anna Pichiecchio; Filippo M Santorelli; Mary Rutherford; Beril Talim; Enzo Ricci; Thomas Voit; Francesco Muntoni
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
Archives of neurology 2006;63(2):251-7.
2006: Eugenio Mercuri; Sonia Messina; R Battini; Angela Berardinelli; P Boffi; R Bono; Claudio Bruno; N Carboni; Claudio Cini; Francesca Colitto; Adele D'Amico; Carlo Minetti; Massimiliano Mirabella; Tiziana Mongini; Lucia Morandi; N Dlamini; Simona Orcesi; Marco Pelliccioni; Marika Pane; Antonella Pini; A V Swan; Marcello Villanova; Giuseppe Vita; Marion Main; Francesco Muntoni; Enrico Bertini
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.
Neuromuscular disorders : NMD 2006;16(2):93-8.
2005: Heinz Jungbluth; Haiyan Zhou; L Hartley; Birgit Halliger-Keller; Sonia Messina; Cheryl Longman; Martin Brockington; Stephanie Robb; Volker Straub; Thomas Voit; Michael Swash; Ana Ferreiro; Graeme M Bydder; Caroline A Sewry; C Müller; Francesco Muntoni
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Neurology 2005;65(12):1930-5.
2005: Martin Brockington; Francesco Muntoni
The modulation of skeletal muscle glycosylation as a potential therapeutic intervention in muscular dystrophies.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2005;24(3):217-21.
2005: Silvia Torelli; Susan C Brown; Martin Brockington; Nazanin F Dolatshad; Cecilia Jimenez; Leigh Skordis; Lucy H Feng; Luciano Merlini; David Hilton Jones; Norma B Romero; Ulla M Wewer; Thomas Voit; Caroline A Sewry; Satoru Noguchi; Ichizo Nishino; Francesco Muntoni
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
Neuromuscular disorders : NMD 2005;15(12):836-43.
2005: Jan Senderek; Michael Krieger; Claudia Stendel; Carsten Bergmann; Markus Moser; Nico Breitbach-Faller; Sabine Rudnik-Schöneborn; Astrid Blaschek; Nicole I Wolf; Inga Harting; Kathryn North; Janine Smith; Francesco Muntoni; Martin Brockington; Susana Quijano-Roy; Francis Renault; Ralf Herrmann; Linda M Hendershot; J Michael Schröder; Hanns Lochmüller; Haluk Topaloglu; Thomas Voit; Joachim Weis; Friedrich Ebinger; Klaus Zerres
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics 2005;37(12):1312-4.
2005: Susan C Brown; Silvia Torelli; Isabella Ugo; Floriana De Biasia; Emily V Howman; Ellen Poon; Joanna Britton; Kay E Davies; Francesco Muntoni
Syncoilin upregulation in muscle of patients with neuromuscular disease.
Muscle & nerve 2005;32(6):715-25.
2005: E Bertini; Arthur H M Burghes; Kate Bushby; Brigitte Estournet-Mathiaud; R S Finkel; R A C Hughes; Susan T Iannaccone; Judith Melki; E Mercuri; Francesco Muntoni; T Voit; B Reitter; Kathryn J Swoboda; D Tiziano; E Tizzano; H Topaloglu; B Wirth; K Zerres
134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2005;15(11):802-16.
2005: Francesco Muntoni; T Voit
133rd ENMC International Workshop on Congenital Muscular Dystrophy (IXth International CMD Workshop) 21-23 January 2005, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2005;15(11):794-801.
2005: Francesco Muntoni; Dimitrios I Zafeiriou; Cecilia Jimenez; Arnold Reuser; Caroline Sewry
A case presenting with delayed motor milestones.
Neuromuscular disorders : NMD 2005;15(11):817-8.
2005: Fiona C Goodwin; Francesco Muntoni
Cardiac involvement in muscular dystrophies: molecular mechanisms.
Muscle & nerve 2005;32(5):577-88.
2005: Eugenio Mercuri; Heinz Jungbluth; Francesco Muntoni
Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders.
Current opinion in neurology 2005;18(5):526-37.
2005: Mariz Vainzof; Pascale Richard; Ralf Herrmann; Cecilia Jimenez-Mallebrera; Beril Talim; Lydia U Yamamoto; Céline Ledeuil; Rachael Mein; Stephen Abbs; Martin Brockington; Norma B Romero; Mayana Zatz; Haluk Topaloglu; Thomas Voit; Caroline Sewry; Francesco Muntoni; Pascale Guicheney; Fernando M S Tomé
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Neuromuscular disorders : NMD 2005;15(9-10):588-94.
2005: Nazanin F Dolatshad; Martin Brockington; Silvia Torelli; L Skordis; U Wever; Dominic J Wells; Francesco Muntoni; Susan C Brown
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.
Experimental cell research 2005;309(2):370-8.
2005: Laura Lucarini; Betti Giusti; Rui-Zhu Zhang; Te-Cheng Pan; Cecilia Jimenez-Mallebrera; Eugenio Mercuri; Francesco Muntoni; Guglielmina Pepe; Mon-Li Chu
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.
Human genetics 2005;117(5):460-6.
2005: Gabrielle Sellick; Cheryl Longman; Martin Brockington; Ibrahim Mahjneh; L Sagi; Kate Bushby; H Topaloğlu; Francesco Muntoni; richard Houlston
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
Human genetics 2005;117(2-3):207-12.
2005: Simona Lucioli; Betti Giusti; Eugenio Mercuri; Olga Camacho Vanegas; Laura Lucarini; V Pietroni; Andoni Urtizberea; Rabah Ben Yaou; Marianne De Visser; Anneke J van der Kooi; Carsten G Bönnemann; S T Iannaccone; Luciano Merlini; Kate Bushby; Francesco Muntoni; Enrico Bertini; Mon-Li Chu; Guglielmina Pepe
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Neurology 2005;64(11):1931-7.
2005: Francesco Muntoni; Kate Bushby; Gertjan van Ommen
128th ENMC International Workshop on 'Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy' 22-24 October 2004, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2005;15(6):450-7.
2005: Eugenio Mercuri; Susan C Brown; Petros Nihoyannopoulos; J Poulton; Maria Kinali; Pascale Richard; Richard J Piercy; Sonia Messina; Caroline Sewry; M M Burke; W McKenna; Gisèle Bonne; Francesco Muntoni
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
Muscle & nerve 2005;31(5):602-9.
2005: Ivan B Fisher; David Abraham; Khaled Bouri; Eric P Hoffmann; Eric Hoffman; Francesco Muntoni; Jennifer Morgan
Prednisolone-induced changes in dystrophic skeletal muscle.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005;19(7):834-6.
2005: Cecilia Jimenez-Mallebrera; Susan C Brown; Caroline A Sewry; Francesco Muntoni
Congenital muscular dystrophy: molecular and cellular aspects.
Cellular and molecular life sciences : CMLS 2005;62(7-8):809-23.
2005: Eugenio Mercuri; Anne Lampe; Joanna M Allsop; Ravi Knight; Marika Pane; Maria Kinali; Carsten G Bönnemann; Kevin M Flanigan; Ilaria Lapini; Kate Bushby; Guglielmina Pepe; Francesco Muntoni
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
Neuromuscular disorders : NMD 2005;15(4):303-10.
2005: Martin Brockington; Silvia Torelli; Paola Prandini; Chiara A Boito; Nazanin F Dolatshad; Cheryl Longman; Susan C Brown; Francesco Muntoni
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
Human molecular genetics 2005;14(5):657-65.
2005: Eugenio Mercuri; Kate Bushby; Enzo Ricci; Daniel Birchall; Marika Pane; Maria Kinali; Joanna M Allsop; Vincenzo Nigro; Amets Sáenz; Anna Chiara Nascimbeni; Luigi Fulizio; Corrado Angelini; Francesco Muntoni
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures.
Neuromuscular disorders : NMD 2005;15(2):164-71.
2005: Anne Lampe; Diane M Dunn; Andrew von Niederhausern; C Hamil; A Aoyagi; Steven H Laval; S K Marie; Mon-Li Chu; Kathryn J Swoboda; Francesco Muntoni; Carsten G Bönnemann; Kevin M Flanigan; K M D Bushby; Robert B Weiss
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Journal of medical genetics 2005;42(2):108-20.
2005: Paola Rimessi; Francesca Gualandi; Laurence Duprez; Pietro Spitali; Marcella Neri; Luciano Merlini; Elisa Calzolari; Francesco Muntoni; Alessandra Ferlini
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.
American journal of medical genetics. Part A 2005;132(4):391-4.
2005: Patrick Ip; Ravi Knight; Inderjeet Dokal; Adnan Y Manzur; Francesco Muntoni
Peripheral neuropathy--a novel finding in dyskeratosis congenita.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2005;9(2):85-9.
2005: Isabella Vasta; Maria Kinali; Sonia Messina; Andrea Guzzetta; Olga Kapellou; Adnan Y Manzur; Frances M Cowan; Francesco Muntoni; Eugenio Mercuri
Can clinical signs identify newborns with neuromuscular disorders?
The Journal of pediatrics 2005;146(1):73-9.
2004: Maria Kinali; L M Banks; Eugenio Mercuri; Adnan Y Manzur; Francesco Muntoni
Bone mineral density in a paediatric spinal muscular atrophy population.
Neuropediatrics 2004;35(6):325-8.
2004: A Majumdar; L Hartley; Adnan Y Manzur; Rosalind H M King; Richard W Orrell; Francesco Muntoni
A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission.
Neuromuscular disorders : NMD 2004;14(12):818-21.
2004: Heinz Jungbluth; Mark R Davis; Clemens Müller; Serena J Counsell; Joanna M Allsop; Arijit Chattopadhyay; Sonia Messina; Eugenio Mercuri; Nigel G Laing; Caroline A Sewry; Graeme M Bydder; Francesco Muntoni
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
Neuromuscular disorders : NMD 2004;14(12):785-90.
2004: Heinz Jungbluth; Caroline A Sewry; Serena J Counsell; Joanna M Allsop; Arijit Chattopadhyay; Eugenio Mercuri; Kathryn North; Nigel Laing; Graeme M Bydder; Katarina Pelin; Carina Wallgren-Pettersson; Francesco Muntoni
Magnetic resonance imaging of muscle in nemaline myopathy.
Neuromuscular disorders : NMD 2004;14(12):779-84.
2004: Maja Poppe; John Bourke; Michelle Eagle; Patrick Frosk; Klaus Wrogemann; Cheryl Greenberg; Francesco Muntoni; Thomas Voit; Volker Straub; David Hilton-Jones; Cheerag Shirodaria; Kate Bushby
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Annals of neurology 2004;56(5):738-41.
2004: Heinz Jungbluth; Alan Beggs; Carsten G Bönnemann; Kate Bushby; Chantal Ceuterick-de Groote; Brigitte Estournet-Mathiaud; Nathalie Goemans; Pascale Guicheney; Alain Lescure; Joël Lunardi; Francesco Muntoni; Ros Quinlivan; Caroline Sewry; Volker Straub; Susan Treves; Ana Ferreiro
111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2004;14(11):754-66.
2004: Sylvie Ducreux; Francesco Zorzato; Clemens Müller; Caroline Sewry; Francesco Muntoni; Ros Quinlivan; Gabriella Restagno; Thierry Girard; Susan Treves
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease.
The Journal of biological chemistry 2004;279(42):43838-46.
2004: MA Kurian; L Hartley; Zarazuela Zolkipli; M A Little; Donal Costigan; E R Naughten; S Olpin; Francesco Muntoni; MD King
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.
Neuropediatrics 2004;35(5):312-6.
2004: Sonia Messina; L Hartley; Marion Main; Maria Kinali; Heinz Jungbluth; Francesco Muntoni; Eugenio Mercuri
Pilot trial of salbutamol in central core and multi-minicore diseases.
Neuropediatrics 2004;35(5):262-6.
2004: Silvia Torelli; Susan C Brown; Cecilia Jimenez-Mallebrera; Lucy Feng; Francesco Muntoni; Caroline A Sewry
Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions.
Neuropathology and applied neurobiology 2004;30(5):540-5.
2004: Maria Kinali; Heinz Jungbluth; Louise H Eunson; Caroline A Sewry; Adnan Y Manzur; Eugenio Mercuri; Michael G Hanna; Francesco Muntoni
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
Neuromuscular disorders : NMD 2004;14(10):689-93.
2004: Francesco Muntoni
Journey into muscular dystrophies caused by abnormal glycosylation.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2004;23(2):79-84.
2004: Kate Bushby; Francesco Muntoni; Andoni Urtizberea; R Hughes; R Griggs
Report on the 124th ENMC International Workshop. Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of corticosteroids. 2-4 April 2004, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2004;14(8-9):526-34.
2004: Carina Wallgren-Pettersson; Katarina Pelin; Kristen J Nowak; Francesco Muntoni; Norma B Romero; Hans H Goebel; Kathryn N North; Alan H Beggs; Nigel G Laing
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
Neuromuscular disorders : NMD 2004;14(8-9):461-70.
2004: Eugenio Mercuri; Anne Lampe; Volker Straub; Yeliz Yuva; Cheryl Longman; M Wright; Sue Brown; Caroline Sewry; Carsten G Bönnemann; Maria Kinali; Martin Brockington; I Hausser; David Hilton-Jones; Thomas Voit; Kate Bushby; Francesco Muntoni
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
Neuropediatrics 2004;35(4):224-9.
2004: Cheryl Longman; Eugenio Mercuri; Frances M Cowan; Joanna M Allsop; Martin Brockington; Cecilia Jimenez-Mallebrera; Sailesh Kumar; Mary Rutherford; Tatsushi Toda; Francesco Muntoni
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
Archives of neurology 2004;61(8):1301-6.
2004: N Cohen; Francesco Muntoni
Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.
Heart (British Cardiac Society) 2004;90(8):835-41.
2004: Martin Brockington; Susan C Brown; Anne Lampe; Yeliz Yuva; Lucy Feng; Cecilia Jimenez-Mallebrera; Caroline A Sewry; Kevin M Flanigan; Kate Bushby; Francesco Muntoni
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.
Prenatal diagnosis 2004;24(6):440-4.
2004: Niaz Cohen; Paola Rimessi; Francesca Gualandi; Alessandra Ferlini; Francesco Muntoni
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy.
Biochemical and biophysical research communications 2004;317(4):1215-20.
2004: Eugenio Mercuri; Maja Poppe; Ros Quinlivan; Sonia Messina; Maria Kinali; Laurence Demay; John Bourke; Pascale Richard; Caroline Sewry; Mike Pike; Gisèle Bonne; Francesco Muntoni; Kate Bushby
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
Archives of neurology 2004;61(5):690-4.
2004: D Beltran-Valero de Bernabé; Thomas Voit; Cheryl Longman; Alice Steinbrecher; Volker Straub; Yeliz Yuva; Ralf Herrmann; J Sperner; C Korenke; Charlotta Diesen; William B Dobyns; H G Brunner; H van Bokhoven; Martin Brockington; Francesco Muntoni
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Journal of medical genetics 2004;41(5):e61.
2004: Francesco Muntoni; Martin Brockington; Silvia Torelli; Susan C Brown
Defective glycosylation in congenital muscular dystrophies.
Current opinion in neurology 2004;17(2):205-9.
2004: Cheryl Longman; Caroline A Sewry; Francesco Muntoni
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.
Pediatric neurology 2004;30(2):125-8.
2004: Susan C Brown; Silvia Torelli; Martin Brockington; Yeliz Yuva; Cecilia Jimenez; Lucy Feng; Louise Anderson; Isabella Ugo; Stephan Kroger; Kate Bushby; Thomas Voit; Caroline Sewry; Francesco Muntoni
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
The American journal of pathology 2004;164(2):727-37.
2004: Eugenio Mercuri; Sonia Messina; Maria Kinali; Claudio Cini; Cheryl Longman; R Battini; G Cioni; Francesco Muntoni
Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.
Neuromuscular disorders : NMD 2004;14(2):125-9.
2004: S C Brown; S Torelli; C Jimenez; Francesco Muntoni; Caroline A Sewry
Immunopathology and molecular genetics of dystrophinopathies.
Supplements to Clinical neurophysiology 2004;57():313-21.
2004: Maria Kinali; Simon E Olpin; P T Clayton; Piers E F Daubeney; Eugenio Mercuri; Adnan Y Manzur; Ingrid Tein; J Leonard; Francesco Muntoni
Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2004;8(4):217-9.
2003: Katja Grohmann; Raymonda Varon; Piroschka Stolz; Markus Schuelke; Catrin Janetzki; Enrico Bertini; Kate Bushby; Francesco Muntoni; Robert Ouvrier; Lionel Van Maldergem; Nathalie Goemans; Hanns Lochmüller; Stephan Eichholz; Coleen Adams; Friedrich Bosch; Padraic Grattan-Smith; Carmen Navarro; Heidemarie Neitzel; Tilman Polster; Haluk Topaloğlu; Christina Steglich; Ulf P Guenther; Klaus Zerres; Sabine Rudnik-Schöneborn; Christoph Hübner
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Annals of neurology 2003;54(6):719-24.
2003: Pervin Dinçer; Burcu Balci; Yeliz Yuva; Beril Talim; Martin Brockington; Deniz Dinçel; Silvia Torelli; Sue Brown; Gülsev Kale; Göknur Haliloglu; Filiz Ozbas Gerçeker; Rengul Cetin-Atalay; Cengiz Yakicier; Cheryl Longman; Francesco Muntoni; Haluk Topaloglu
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Neuromuscular disorders : NMD 2003;13(10):771-8.
2003: Francesco Muntoni; Silvia Torelli; Alessandra Ferlini
Dystrophin and mutations: one gene, several proteins, multiple phenotypes.
Lancet neurology 2003;2(12):731-40.
2003: Cheryl Longman; Martin Brockington; Silvia Torelli; Cecilia Jimenez-Mallebrera; Colin Kennedy; Nofal Khalil; Lucy Feng; Ravindra K Saran; Thomas Voit; Luciano Merlini; Caroline A Sewry; Susan C Brown; Francesco Muntoni
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.
Human molecular genetics 2003;12(21):2853-61.
2003: Sandra Hanks; Sarah Adams; Jenny Douglas; Laura Arbour; David J Atherton; Sevim Balci; Harald Bode; Mary E Campbell; Murray Feingold; Gökhan Keser; Wim J Kleijer; Grazia Mancini; John A McGrath; Francesco Muntoni; Arti Nanda; M Dawn Teare; Matthew Warman; F Michael Pope; andrea superti-furga; P Andrew Futreal; Nazneen Rahman
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
American journal of human genetics 2003;73(4):791-800.
2003: Francesco Muntoni
Cardiomyopathy in muscular dystrophies.
Current opinion in neurology 2003;16(5):577-83.
2003: Francesco Muntoni; B Valero de Bernabe; R Bittner; D Blake; H van Bokhoven; Martin Brockington; S Brown; Kate Bushby; Kevin P Campbell; M Fiszman; S Gruenewald; Luciano Merlini; Susana Quijano-Roy; Norma B Romero; Patrizia Sabatelli; Caroline A Sewry; Volker Straub; Beril Talim; Haluk Topaloglu; Thomas Voit; Peter D Yurchenco; J Andoni Urtizberea; Ulla M Wewer; Pascale Guicheney
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE).
Neuromuscular disorders : NMD 2003;13(7-8):579-88.
2003: Eugenio Mercuri; Claudio Cini; Anna Pichiecchio; Joanna M Allsop; Serena J Counsell; Zarazuela Zolkipli; Sonia Messina; Maria Kinali; Susan C Brown; Cecilia Jimenez; Martin Brockington; Yeliz Yuva; Caroline A Sewry; Francesco Muntoni
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype.
Neuromuscular disorders : NMD 2003;13(7-8):554-8.
2003: Francesca Gualandi; Cecilia Trabanelli; Paola Rimessi; Elisa Calzolari; Luisa Toffolatti; Tomaso Patarnello; G Kunz; Francesco Muntoni; Alessandra Ferlini
Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.
Journal of medical genetics 2003;40(8):e100.
2003: Gisèle Bonne; R Ben Yaou; Christophe Béroud; Giuseppe Boriani; Sue Brown; Marianne De Visser; Denis Duboc; Juliet Ellis; Irena Hausmanowa-Petrusewicz; Giovanna Lattanzi; Luciano Merlini; Glenn Morris; Francesco Muntoni; Grzegorz Opolski; Yigal M Pinto; Federica Sangiuolo; Daniela Toniolo; Richard C Trembath; Jop H van Berlo; Anneke J van der Kooi; Manfred Wehnert
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2003;13(6):508-15.
2003: Marianne Kristiansen; G P S Knudsen; SM Tanner; Meriel McEntagart; Heinz Jungbluth; Francesco Muntoni; Caroline Sewry; S Gallati; Karen Helene Ørstavik; Carina Wallgren-Pettersson
X-inactivation patterns in carriers of X-linked myotubular myopathy.
Neuromuscular disorders : NMD 2003;13(6):468-71.
2003: Francesca Gualandi; Paola Rimessi; Barbara Cardazzo; Luisa Toffolatti; Matthew G Dunckley; Elisa Calzolari; Tomaso Patarnello; Francesco Muntoni; Alessandra Ferlini
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality.
Gene 2003;311():25-33.
2003: Maja Poppe; Lynsey M Cree; John Bourke; Michelle Eagle; Louise V B Anderson; Daniel Birchall; Martin Brockington; MR Buddles; M Busby; Francesco Muntoni; A Wills; Kate Bushby
The phenotype of limb-girdle muscular dystrophy type 2I.
Neurology 2003;60(8):1246-51.
2003: Zarazuela Zolkipli; L Hartley; Sue Brown; Mary Rutherford; Frances M Cowan; Eugenio Mercuri; Francesco Muntoni
Occipito-temporal polymicrogyria and subclinical muscular dystrophy.
Neuropediatrics 2003;34(2):92-5.
2003: Eugenio Mercuri; Martin Brockington; Volker Straub; Susana Quijano-Roy; Yeliz Yuva; Ralf Herrmann; Susan C Brown; Silvia Torelli; Victor Dubowitz; Derek J Blake; Norma B Romero; Brigitte Estournet; Caroline A Sewry; Pascale Guicheney; Thomas Voit; Francesco Muntoni
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of neurology 2003;53(4):537-42.
2003: Leigh A Skordis; Matthew G Dunckley; Baigong Yue; Ian C Eperon; Francesco Muntoni
Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(7):4114-9.
2003: Haluk Topaloglu; Martin Brockington; Yeliz Yuva; Beril Talim; Göknur Haliloglu; D Blake; Silvia Torelli; Susan C Brown; Francesco Muntoni
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Neurology 2003;60(6):988-92.
2003: Francesco Muntoni
Cardiac complications of childhood myopathies.
Journal of child neurology 2003;18(3):191-202.
2003: Adnan Y Manzur; Francesco Muntoni; Anita K Simonds
Muscular dystrophy campaign sponsored workshop: recommendation for respiratory care of children with spinal muscular atrophy type II and III. 13th February 2002, London, UK.
Neuromuscular disorders : NMD 2003;13(2):184-9.
2003: Mark R Davis; E Haan; Heinz Jungbluth; Caroline Sewry; Kathryn North; Francesco Muntoni; Thierry Kuntzer; P Lamont; A Bankier; P Tomlinson; A Sánchez; P Walsh; L Nagarajan; C Oley; A Colley; Agi K Gedeon; Ros Quinlivan; J Dixon; Danielle James; Clemens R Müller; Nigel G Laing
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Neuromuscular disorders : NMD 2003;13(2):151-7.
2003: Zarazuela Zolkipli; Cheryl Longman; Sue Brown; Nazneen Rahman; S E Holder; Francesco Muntoni
Skeletal muscle involvement in infantile systemic hyalinosis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(6):401-6.
2003: Francesco Muntoni
Congenital muscular dystrophies (CMD).
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(5):229.
2003: Marion Main; Harvey Kairon; Eugenio Mercuri; Francesco Muntoni
The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(4):155-9.
2003: Cecilia Jiménez-Mallebrera; Silvia Torelli; Susan C Brown; Lucy Feng; Martin Brockington; Caroline A Sewry; Daniel Beltrán-Valero de Bernabé; Francesco Muntoni
Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(3):129-37.
2003: Heinz Jungbluth; Caroline A Sewry; Francesco Muntoni
What's new in neuromuscular disorders? The congenital myopathies.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(1):23-30.
2003: Heinz Jungbluth; Caroline A Sewry; Anna Buj-Bello; Marianne Kristiansen; Karen Helene Ørstavik; A Kelsey; Adnan Y Manzur; Eugenio Mercuri; Carina Wallgren-Pettersson; Francesco Muntoni
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.
Neuromuscular disorders : NMD 2003;13(1):55-9.
2002: Christopher T Esapa; Matthew A Benson; Jörn E Schröder; Enca Martin-Rendon; Martin Brockington; Susan C Brown; Francesco Muntoni; Stephan Kröger; Derek J Blake
Functional requirements for fukutin-related protein in the Golgi apparatus.
Human molecular genetics 2002;11(26):3319-31.
2002: Göknur Haliloglu; A Chattopadhyay; L Skorodis; Adnan Y Manzur; Eugenio Mercuri; Beril Talim; Zuhal Akçören; Y Renda; Francesco Muntoni; H Topaloğlu
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.
Neuropediatrics 2002;33(6):314-9.
2002: Guglielmina Pepe; Enrico Bertini; Paolo Bonaldo; Kate Bushby; Betti Giusti; Marianne De Visser; Pascale Guicheney; Giovanna Lattanzi; Luciano Merlini; Francesco Muntoni; Ichizo Nishino; Ikuya Nonaka; R Ben Yaou; Patrizia Sabatelli; Caroline Sewry; Haluk Topaloglu; Anneke J van der Kooi
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(10):984-93.
2002: Francesco Muntoni; Martin Brockington; Derek J Blake; Silvia Torelli; Susan C Brown
Defective glycosylation in muscular dystrophy.
Lancet 2002;360(9343):1419-21.
2002: Luisa Toffolatti; Barbara Cardazzo; Carlo Nobile; Gian Antonio Danieli; Francesca Gualandi; Francesco Muntoni; Stephen Abbs; Patrizia Zanetti; Corrado Angelini; Alessandra Ferlini; Marina Fanin; Tomaso Patarnello
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.
Genomics 2002;80(5):523-30.
2002: Francesco Muntoni; Enrico Bertini; Carsten G Bönnemann; Martin Brockington; S Brown; Kate Bushby; M Fiszman; C Körner; Eugenio Mercuri; Luciano Merlini; J Hewitt; Susana Quijano-Roy; Norma B Romero; Stefano Squarzoni; Caroline A Sewry; Volker Straub; Haluk Topaloglu; Göknur Haliloglu; Thomas Voit; Ulla M Wewer; Pascale Guicheney
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(9):889-96.
2002: Denise G M McDonald; Maria Kinali; Andrew C Gallagher; Eugenio Mercuri; Francesco Muntoni; Helen Roper; Philip Jardine; David Hilton Jones; M G Pike
Fracture prevalence in Duchenne muscular dystrophy.
Developmental medicine and child neurology 2002;44(10):695-8.
2002: Katarina Pelin; Kristian Donner; Maria Holmberg; Heinz Jungbluth; Francesco Muntoni; Carina Wallgren-Pettersson
Nebulin mutations in autosomal recessive nemaline myopathy: an update.
Neuromuscular disorders : NMD 2002;12(7-8):680-6.
2002: Eugenio Mercuri; Beril Talim; Behzad Moghadaszadeh; Nathalie Petit; Martin Brockington; Serena Counsell; Pascale Guicheney; Francesco Muntoni; Luciano Merlini
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
Neuromuscular disorders : NMD 2002;12(7-8):631-8.
2002: Maria Kinali; Eugenio Mercuri; Marion Main; Francesco Muntoni; Victor Dubowitz
An effective, low-dosage, intermittent schedule of prednisolone in the long-term treatment of early cases of Duchenne dystrophy.
Neuromuscular disorders : NMD 2002;12 Suppl 1():S169-74.
2002: Francesco Muntoni; Ivan Fisher; Jennifer E Morgan; David Abraham
Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research.
Neuromuscular disorders : NMD 2002;12 Suppl 1():S162-5.
2002: Ana Ferreiro; Susana Quijano-Roy; Claire Pichereau; Behzad Moghadaszadeh; Nathalie Goemans; Carsten G Bönnemann; Heinz Jungbluth; Volker Straub; Marcello Villanova; Jean-Paul Leroy; Norma B Romero; Jean-Jacques Martin; Francesco Muntoni; Thomas Voit; Brigitte Estournet; Pascale Richard; Michel Fardeau; Pascale Guicheney
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
American journal of human genetics 2002;71(4):739-49.
2002: Maria Kinali; Eugenio Mercuri; Marion Main; F De Biasia; Ageliki A Karatza; R Higgins; L M Banks; Adnan Y Manzur; Francesco Muntoni
Pilot trial of albuterol in spinal muscular atrophy.
Neurology 2002;59(4):609-10.
2002: Heinz Jungbluth; Clemens R Müller; Birgit Halliger-Keller; Martin Brockington; S C Brown; Lucy Feng; Arijit Chattopadhyay; Eugenio Mercuri; Adnan Y Manzur; Ana Ferreiro; Nigel G Laing; Mark R Davis; Helen Roper; Victor Dubowitz; Graeme M Bydder; Caroline A Sewry; Francesco Muntoni
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Neurology 2002;59(2):284-7.
2002: Marc J Greener; Caroline A Sewry; Francesco Muntoni; Roland Roberts
The 3'-untranslated region of the dystrophin gene - conservation and consequences of loss.
European journal of human genetics : EJHG 2002;10(7):413-20.
2002: Eugenio Mercuri; Caroline Sewry; Susan C Brown; Francesco Muntoni
Congenital muscular dystrophies.
Seminars in pediatric neurology 2002;9(2):120-31.
2002: Francesco Muntoni; Sue Brown; Caroline Sewry; Ketan Patel
Muscle development genes: their relevance in neuromuscular disorders.
Neuromuscular disorders : NMD 2002;12(5):438-46.
2002: Eugenio Mercuri; Yeliz Yuva; Susan C Brown; Martin Brockington; Maria Kinali; Heinz Jungbluth; Lucy Feng; Caroline A Sewry; Francesco Muntoni
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
Neurology 2002;58(9):1354-9.
2002: Federica Deodato; M Sabatelli; E Ricci; Eugenio Mercuri; Francesco Muntoni; Caroline Sewry; IS Naom; P Tonali; Francesco Guzzetta
Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.
Neuromuscular disorders : NMD 2002;12(4):392-8.
2002: Francesco Muntoni; Luisa Mestroni
[Dilated cardiomyopathy: role of clinical and instrumental evaluation of the neuromuscular system].
Italian heart journal. Supplement : official journal of the Italian Federation of Cardiology 2002;3(4):399-404.
2002: Guglielmina Pepe; Marianne De Visser; Enrico Bertini; Kate Bushby; Olga Camacho Vanegas; Mon-Li Chu; Giovanna Lattanzi; Luciano Merlini; Francesco Muntoni; Andoni Urtizberea
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(3):296-305.
2002: Eugenio Mercuri; Serena J Counsell; Joanna M Allsop; Heinz Jungbluth; Maria Kinali; Gisèle Bonne; Ketty Schwartz; Graeme M Bydder; Victor Dubowitz; Francesco Muntoni
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuropediatrics 2002;33(1):10-4.
2002: Luciano Merlini; Brigitte Estournet-Mathiaud; Susan T Iannaccone; Judith Melki; Francesco Muntoni; Sabine Rudnik-Schöneborn; Haluk Topaloglu; Giuseppe Vita; Thomas Voit
90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(2):201-10.
2002: Gisèle Bonne; Jaqueline Capeau; Marianne De Visser; Denis Duboc; Luciano Merlini; Glenn E Morris; Francesco Muntoni; Dominique Recan; Caroline Sewry; Stefano Squarzoni; Colin Stewart; Beril Talim; Anneke J van der Kooi; Howard J Worman; Ketty Schwartz
82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(2):187-94.
2002: Eugenio Mercuri; Claudio Cini; Serena J Counsell; Joanna M Allsop; Zarazuela Zolkipli; Heinz Jungbluth; Caroline Sewry; Susan C Brown; Guglielmina Pepe; Francesco Muntoni
Muscle MRI findings in a three-generation family affected by Bethlem myopathy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2002;6(6):309-14.
2002: Victor Dubowitz; Maria Kinali; Marion Main; Eugenio Mercuri; Francesco Muntoni
Remission of clinical signs in early duchenne muscular dystrophy on intermittent low-dosage prednisolone therapy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2002;6(3):153-9.
2002: Francesco Muntoni; Pascale Guicheney
85th ENMC International Workshop on Congenital Muscular Dystrophy. 6th International CMD Workshop. 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(1):69-78.
2001: N Tilgen; Francesco Zorzato; Birgit Halliger-Keller; Francesco Muntoni; Caroline Sewry; L M Palmucci; C Schneider; E Hauser; Frank Lehmann-Horn; Clemens R Müller; Susan Treves
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
Human molecular genetics 2001;10(25):2879-87.
2001: Martin Brockington; Yeliz Yuva; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Ralf Herrmann; Louise V B Anderson; Rumaisa Bashir; Jean-Marc Burgunder; S Fallet; Norma B Romero; M Fardeau; Volker Straub; G Storey; C Pollitt; Isabelle Richard; Caroline A Sewry; Kate Bushby; Thomas Voit; Derek J Blake; Francesco Muntoni
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.
Human molecular genetics 2001;10(25):2851-9.
2001: Martin Brockington; Derek J Blake; Paola Prandini; Susan C Brown; Silvia Torelli; Matthew A Benson; Chris P Ponting; Brigitte Estournet; Norma B Romero; Eugenio Mercuri; Thomas Voit; Caroline A Sewry; Pascale Guicheney; Francesco Muntoni
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
American journal of human genetics 2001;69(6):1198-209.
2001: Katja Grohmann; Markus Schuelke; Alexander Diers; K Hoffmann; B Lucke; C Adams; Enrico Bertini; H Leonhardt-Horti; Francesco Muntoni; Robert Ouvrier; A Pfeufer; Rainer Rossi; Lionel Van Maldergem; Jo Wilmshurst; Thomas F Wienker; Michael Sendtner; Sabine Rudnik-Schöneborn; Klaus Zerres; Christoph Hübner
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Nature genetics 2001;29(1):75-7.
2001: Behzad Moghadaszadeh; Nathalie Petit; C Jaillard; Martin Brockington; S Quijano Roy; Luciano Merlini; Norma B Romero; Brigitte Estournet; Isabelle Desguerre; D Chaigne; Francesco Muntoni; Haluk Topaloglu; Pascale Guicheney
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2001: J Philpot; Serena J Counsell; Graeme M Bydder; Caroline A Sewry; Victor Dubowitz; Francesco Muntoni
Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?
Neuromuscular disorders : NMD 2001;11(5):489-93.
2001: E Dodds; Matthew G Dunckley; Roland Roberts; Francesco Muntoni; Christopher Shaw
Overexpressed human survival motor neurone isoforms, SMNDeltaexon7 and SMN+exon7, both form intranuclear gems but differ in cytoplasmic distribution.
FEBS letters 2001;495(1-2):31-8.
2001: L A Skordis; Matthew G Dunckley; L Burglen; L Campbell; K Talbot; S Patel; J Melki; Kay E Davies; Victor Dubowitz; Francesco Muntoni
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.
Human genetics 2001;108(4):356-7.
2001: Susan C Brown; Francesco Muntoni; Caroline A Sewry
Non-sarcolemmal muscular dystrophies.
Brain pathology (Zurich, Switzerland) 2001;11(2):193-205.
2001: Eugenio Mercuri; Mary Rutherford; C De Vile; Serena J Counsell; Caroline Sewry; S Brown; Graeme M Bydder; Victor Dubowitz; Francesco Muntoni
Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy.
Neuromuscular disorders : NMD 2001;11(3):297-9.
2001: Eugenio Mercuri; Francesco Muntoni
What's new in neuromuscular disorders? Nuclear envelope and Emery-Dreifuss muscular dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001;5(1):3-5.
2001: R Pogue; Louise V B Anderson; Angela Pyle; C Sewry; C Pollitt; MA Johnson; K Davison; JA Moss; E Mercuri; Francesco Muntoni; K M D Bushby
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.
Neuromuscular disorders : NMD 2001;11(1):80-7.
2001: Heinz Jungbluth; Caroline A Sewry; S C Brown; Kristen J Nowak; Nigel G Laing; Carina Wallgren-Pettersson; Katarina Pelin; Adnan Y Manzur; Eugenio Mercuri; Victor Dubowitz; Francesco Muntoni
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
Neuromuscular disorders : NMD 2001;11(1):35-40.
2000: Eugenio Mercuri; Caroline A Sewry; Susan C Brown; Martin Brockington; Heinz Jungbluth; C DeVile; Serena J Counsell; Adnan Y Manzur; Francesco Muntoni
Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
Neuropediatrics 2000;31(4):186-9.
2000: Gisèle Bonne; Eugenio Mercuri; Antoine Muchir; Andoni Urtizberea; Henri-Marc Bécane; Dominique Recan; Luciano Merlini; Manfred Wehnert; R Boor; U Reuner; Matthias Vorgerd; E M Wicklein; Bruno Eymard; Denis Duboc; I Penisson-Besnier; Jean-Marie Cuisset; Xavier Ferrer; Isabelle Desguerre; D Lacombe; Kate Bushby; C Pollitt; Daniela Toniolo; Michel Fardeau; Ketty Schwartz; Francesco Muntoni
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Annals of neurology 2000;48(2):170-80.
2000: Heinz Jungbluth; Caroline Sewry; Susan C Brown; Adnan Y Manzur; E Mercuri; Kate Bushby; P Rowe; M A Johnson; I Hughes; A Kelsey; Victor Dubowitz; Francesco Muntoni
Minicore myopathy in children: a clinical and histopathological study of 19 cases.
Neuromuscular disorders : NMD 2000;10(4-5):264-73.
2000: Eugenio Mercuri; Adnan Y Manzur; Heinz Jungbluth; Gisèle Bonne; Antoine Muchir; Caroline Sewry; Ketty Schwartz; Francesco Muntoni
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).
Neurology 2000;54(8):1704-5.
2000: H Jin; R J Gardner; R Viswesvaraiah; Francesco Muntoni; Roland Roberts
Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
European journal of human genetics : EJHG 2000;8(2):87-94.
2000: Heinz Jungbluth; Adnan Y Manzur; Graeme M Bydder; Francesco Muntoni
Generalized calcification in a case of dermatomyositis.
Neuromuscular disorders : NMD 2000;10(2):150.
2000: Martin Brockington; Caroline A Sewry; R Herrmann; IS Naom; Andrew Dearlove; M Rhodes; Haluk Topaloglu; Victor Dubowitz; T Voit; Francesco Muntoni
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.
American journal of human genetics 2000;66(2):428-35.
2000: J Philpot; JM Pennock; Frances M Cowan; Caroline A Sewry; Victor Dubowitz; Graeme M Bydder; Francesco Muntoni
Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(3):109-14.
2000: Heinz Jungbluth; Mark I Rees; Adnan Y Manzur; E Mercuri; Caroline A Sewry; P Gobbi; Francesco Muntoni
An unusual case of hyperekplexia.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(2):77-80.
2000: E Bolland; Adnan Y Manzur; T M Milward; Francesco Muntoni
Velocardiofacial syndrome associated with atrophy of the shoulder girdle muscles and cervicomedullary narrowing.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(2):73-6.
2000: Eugenio Mercuri; F Goodwin; Caroline Sewry; Victor Dubowitz; Francesco Muntoni
Diaphragmatic spinal muscular atrophy with bulbar weakness.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2000;4(2):69-72.
2000: IS Naom; M D'Alessandro; Caroline A Sewry; P Jardine; Alessandra Ferlini; T Moss; Victor Dubowitz; Francesco Muntoni
Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.
Brain : a journal of neurology 2000;123 ( Pt 1)():31-41.
1999: Francesco Muntoni; Alessandra Ferlini; Caroline Sewry; Anna Mateddu; Giovanni Marrosu; Maurizio Porcu; Andrea Di Lenarda; Gianfranco Sinagra; Luisa Mestroni
Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?
Cardiologia (Rome, Italy) 1999;44 Suppl 1(Pt 1):209-11.
1999: Carina Wallgren-Pettersson; Katarina Pelin; P Hilpelä; Kristian Donner; Berardino Porfirio; Claudio Graziano; Kathryn J Swoboda; M Fardeau; J Andoni Urtizberea; Francesco Muntoni; Caroline Sewry; Victor Dubowitz; Susan T Iannaccone; C Minetti; M Pedemonte; Marco Seri; Roberto Cusano; M Lammens; A Castagna-Sloane; Alan H Beggs; Nigel G Laing; Albert de La Chapelle
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
Neuromuscular disorders : NMD 1999;9(8):564-72.
1999: Silvia Torelli; Alessandra Ferlini; L Obici; Caroline Sewry; Francesco Muntoni
Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle.
Neuromuscular disorders : NMD 1999;9(8):541-51.
1999: E Mercuri; J Poulton; J Buck; V Broadbent; M Bamford; Heinz Jungbluth; Adnan Y Manzur; Francesco Muntoni
Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A.
Archives of disease in childhood 1999;81(5):442-3.
1999: Tomaso Gnecchi-Ruscone; J Taylor; E Mercuri; G Paternostro; R Pogue; Kate Bushby; C Sewry; Francesco Muntoni; Paolo G Camici
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?
Muscle & nerve 1999;22(11):1549-56.
1999: Francesco Muntoni; F Goodwin; Caroline Sewry; P Cox; Frances M Cowan; E Airaksinen; S Patel; Jaakko Ignatius; Victor Dubowitz
Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.
Neuropediatrics 1999;30(5):243-8.
1999: C A Sewry; Francesco Muntoni
Inherited disorders of the extracellular matrix.
Current opinion in neurology 1999;12(5):519-26.
1999: Jacques Beckmann; R H Brown; Francesco Muntoni; A Urtizberea; Carsten G Bönnemann; K M Bushby
66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands.
Neuromuscular disorders : NMD 1999;9(6-7):436-45.
1999: Eugenio Mercuri; J Gruter-Andrew; J Philpot; Caroline Sewry; Serena J Counsell; S Henderson; A Jensen; IS Naom; Graeme M Bydder; Victor Dubowitz; Francesco Muntoni
Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.
Neuromuscular disorders : NMD 1999;9(6-7):383-7.
1999: Behzad Moghadaszadeh; Haluk Topaloglu; Luciano Merlini; Francesco Muntoni; Brigitte Estournet; Caroline Sewry; IS Naom; Annie Barois; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: M D'Alessandro; IS Naom; Alessandra Ferlini; Caroline Sewry; Victor Dubowitz; Francesco Muntoni
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
Human genetics 1999;105(4):308-13.
1999: Kristen J Nowak; Duangrurdee Wattanasirichaigoon; Hans H Goebel; M Wilce; Katarina Pelin; Kristian Donner; Rebecca L Jacob; Christoph Hübner; K Oexle; J R Anderson; C M Verity; Kathryn N North; Susan T Iannaccone; C R Müller; P Nürnberg; Francesco Muntoni; Caroline Sewry; I Hughes; Rebecca Sutphen; A G Lacson; Kathryn J Swoboda; J Vigneron; Carina Wallgren-Pettersson; Alan H Beggs; Nigel G Laing
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nature genetics 1999;23(2):208-12.
1999: Alessandra Ferlini; Caroline Sewry; Maria Antonietta Melis; Anna Mateddu; Francesco Muntoni
X-linked dilated cardiomyopathy and the dystrophin gene.
Neuromuscular disorders : NMD 1999;9(5):339-46.
1999: J Philpot; A Bagnall; C King; Victor Dubowitz; Francesco Muntoni
Feeding problems in merosin deficient congenital muscular dystrophy.
Archives of disease in childhood 1999;80(6):542-7.
1999: Katarina Pelin; P Hilpelä; Kristian Donner; Caroline Sewry; P Anthony Akkari; Stephen D Wilton; Duangrurdee Wattanasirichaigoon; Marie-Louise Bang; T Centner; F Hanefeld; S Odent; M Fardeau; J Andoni Urtizberea; Francesco Muntoni; Victor Dubowitz; Alan H Beggs; Nigel G Laing; Siegfried Labeit; Albert de La Chapelle; Carina Wallgren-Pettersson
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(5):2305-10.
1999: J Philpot; Frances M Cowan; JM Pennock; Caroline Sewry; Victor Dubowitz; Graeme M Bydder; Francesco Muntoni
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.
Neuromuscular disorders : NMD 1999;9(2):81-5.
1999: Gisèle Bonne; M R Di Barletta; Shaida Varnous; Henri-Marc Bécane; EH Hammouda; Luciano Merlini; Francesco Muntoni; C R Greenberg; F Gary; J Andoni Urtizberea; Denis Duboc; Michel Fardeau; Daniela Toniolo; Ketty Schwartz
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Nature genetics 1999;21(3):285-8.
1999: Ibrahim Mahjneh; Kate Bushby; L Anderson; Francesco Muntoni; H Tolvanen-Mahjneh; Rumaisa Bashir; Assunta Pizzi; Martin Brockington; Giampiero Marconi
Merosin-positive congenital muscular dystrophy: a large inbred family.
Neuropediatrics 1999;30(1):22-8.
1998: IS Naom; M D'Alessandro; Caroline A Sewry; J Philpot; Adnan Y Manzur; Victor Dubowitz; Francesco Muntoni
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1998;8(7):495-501.
1998: Adnan Y Manzur; Caroline A Sewry; J Ziprin; Victor Dubowitz; Francesco Muntoni
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance.
Neuromuscular disorders : NMD 1998;8(7):467-73.
1998: J Taylor; Caroline A Sewry; Victor Dubowitz; Francesco Muntoni
Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression.
Neurology 1998;51(4):1116-20.
1998: Nicos Spyrou; J Philpot; Rodney A Foale; Paolo G Camici; Francesco Muntoni
Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy.
American heart journal 1998;136(3):474-6.
1998: Alessandra Ferlini; N Galié; Luciano Merlini; Caroline Sewry; A Branzi; Francesco Muntoni
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.
American journal of human genetics 1998;63(2):436-46.
1998: Maria Giovanna Marrosu; Maria Rita Murru; Gianna Costa; Raffaele Murru; Francesco Muntoni; Francesco Cucca
DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population.
Human molecular genetics 1998;7(8):1235-7.
1998: Behzad Moghadaszadeh; Isabelle Desguerre; Haluk Topaloglu; Francesco Muntoni; S Pavek; Caroline Sewry; M Mayer; Michel Fardeau; Fernando M S Tomé; Pascale Guicheney
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
American journal of human genetics 1998;62(6):1439-45.
1998: Eugenio Mercuri; S Anker; J Philpot; Caroline Sewry; Victor Dubowitz; Francesco Muntoni
Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy.
Pediatric neurology 1998;18(5):399-401.
1998: Maria Giovanna Marrosu; S Vaccargiu; Giovanni Marrosu; Alessandro Vannelli; Carlo Cianchetti; Francesco Muntoni
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
Neurology 1998;50(5):1397-401.
1998: Sushila Manilal; Dominique Recan; Caroline A Sewry; M Hoeltzenbein; Stéphane Llense; France Leturcq; Nathalie Deburgrave; Jean Claude Barbot; Nguyen thi Man; Francesco Muntoni; Manfred Wehnert; J Kaplan; Glenn E Morris
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
Human molecular genetics 1998;7(5):855-64.
1998: Francesco Muntoni; E J Lichtarowicz-Krynska; Caroline A Sewry; Sushila Manilal; Dominique Recan; Stéphane Llense; J Taylor; Glenn E Morris; Victor Dubowitz
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1998;8(2):72-6.
1998: Kate Bushby; Louise V B Anderson; C Pollitt; IS Naom; Francesco Muntoni; Laurence A Bindoff
Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.
Brain : a journal of neurology 1998;121 ( Pt 4)():581-8.
1998: Alessandra Ferlini; Francesco Muntoni
The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs.
Biochemical and biophysical research communications 1998;242(2):401-6.
1998: Francesco Muntoni; J Taylor; Caroline A Sewry; IS Naom; Victor Dubowitz
An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1998;2(1):19-26.
1998: Maria Antonietta Melis; Milena Cau; Francesco Muntoni; Anna Mateddu; Renzo Galanello; L Boccone; F Deidda; D Loi; Antonio Cao
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1998;2(5):255-61.
1998: Milena Cau; Antonio Cao; D Loi; A Puddu; Francesco Muntoni; Anna Mateddu; Maria Antonietta Melis
Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.
Human mutation 1998;12(1):70.
1998: Maria Antonietta Melis; Francesco Muntoni; Milena Cau; D Loi; A Puddu; L Boccone; Anna Mateddu; Carlo Cianchetti; Antonio Cao
Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy.
Human mutation 1998;Suppl 1():S137-8.
1998: Carlo Cianchetti; Maria Giovanna Marrosu; Francesco Muntoni; A Fratta; Alessandro Zuddas
Intraventricular alpha-interferon in subacute sclerosing panencephalitis.
Neurology 1998;50(1):315-6.
1997: Francesco Muntoni; Andrea Di Lenarda; Maurizio Porcu; Gianfranco Sinagra; Anna Mateddu; Giovanni Marrosu; Alessandra Ferlini; Milena Cau; J Milasin; Maria Antonietta Melis; M G Marrosu; Carlo Cianchetti; A Sanna; Arturo Falaschi; Fulvio Camerini; Mauro Giacca; Luisa Mestroni
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.
Heart (British Cardiac Society) 1997;78(6):608-12.
1997: J Taylor; Francesco Muntoni; Victor Dubowitz; Caroline A Sewry
The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related.
Neuropathology and applied neurobiology 1997;23(5):399-405.
1997: Maria Giovanna Marrosu; Maria Rita Murru; Gianna Costa; Francesco Cucca; S Sotgiu; Giulio Rosati; Francesco Muntoni
Multiple sclerosis in Sardinia is associated and in linkage disequilibrium with HLA-DR3 and -DR4 alleles.
American journal of human genetics 1997;61(2):454-7.
1997: Caroline A Sewry; M D'Alessandro; L A Wilson; L M Sorokin; IS Naom; S Bruno; Alessandra Ferlini; Victor Dubowitz; Francesco Muntoni
Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.
Neuropediatrics 1997;28(4):217-22.
1997: J Taylor; Francesco Muntoni; S Robb; Victor Dubowitz; Caroline Sewry
Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?
Neuromuscular disorders : NMD 1997;7(4):211-6.
1997: Kevin Talbot; NR Rodrigues; Jaakko Ignatius; Francesco Muntoni; Kay E Davies
Gene conversion at the SMN locus in autosomal recessive spinal muscular atrophy does not predict a mild phenotype.
Neuromuscular disorders : NMD 1997;7(3):198-201.
1997: IS Naom; Caroline Sewry; M D'Alessandro; Haluk Topaloglu; Alessandra Ferlini; L Wilson; Victor Dubowitz; Francesco Muntoni
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.
Neuromuscular disorders : NMD 1997;7(3):176-9.
1997: Caroline A Sewry; IS Naom; M D'Alessandro; L Sorokin; S Bruno; L A Wilson; Victor Dubowitz; Francesco Muntoni
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.
Neuromuscular disorders : NMD 1997;7(3):169-75.
1997: IS Naom; M D'Alessandro; Caroline Sewry; Alessandra Ferlini; Haluk Topaloglu; AH Helbling-Leclerc; Pascale Guicheney; Ketty Schwartz; Zuhal Akcoren; Victor Dubowitz; Francesco Muntoni
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.
Human genetics 1997;99(4):535-40.
1997: E Tan; Haluk Topaloglu; Caroline Sewry; Y Zorlu; IS Naom; S Erdem; M D'Alessandro; Francesco Muntoni; Victor Dubowitz
Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.
Neuromuscular disorders : NMD 1997;7(2):85-9.
1997: Maria Giovanna Marrosu; S Vaccargiu; Giovanni Marrosu; Alessandro Vannelli; Carlo Cianchetti; Francesco Muntoni
A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.
Neurology 1997;48(2):489-93.
1997: IS Naom; M D'Alessandro; Haluk Topaloglu; Caroline Sewry; Alessandra Ferlini; AH Helbling-Leclerc; Pascale Guicheney; J Weissenbach; Ketty Schwartz; Kate Bushby; J Philpot; Victor Dubowitz; Francesco Muntoni
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
Journal of medical genetics 1997;34(2):99-104.
1997: F Goodwin; Francesco Muntoni; Victor Dubowitz
Epilepsy in Duchenne and Becker muscular dystrophies.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1997;1(4):115-9.
1997: Sushila Manilal; Caroline A Sewry; Nguyen thi Man; Francesco Muntoni; Glenn E Morris
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies.
Neuromuscular disorders : NMD 1997;7(1):63-6.
1997: Haluk Topaloglu; Francesco Muntoni; Victor Dubowitz; Caroline Sewry
Expression of HLA class I antigens in skeletal muscle is a diagnostic marker in juvenile dermatomyositis.
Journal of child neurology 1997;12(1):60-3.
1996: C A Sewry; J Taylor; Louise V B Anderson; E Ozawa; R Pogue; F Piccolo; K Bushby; V Dubowitz; Francesco Muntoni
Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(6):467-74.
1996: Eugenio Mercuri; JM Pennock; F Goodwin; C Sewry; Frances M Cowan; Lilly Dubowitz; Victor Dubowitz; Francesco Muntoni
Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(6):425-9.
1996: Maria Rita Murru; G Costa; Raffaele Murru; Francesco Muntoni; Maria Giovanna Marrosu
A new allelic variant of HLA-DRB1*1101 (DRB1*11013) segregating in a Sardinian family.
Tissue antigens 1996;48(5):604-6.
1996: C A Sewry; IS Naom; M D'Alessandro; Alessandra Ferlini; J Philpot; Eugenio Mercuri; Victor Dubowitz; Francesco Muntoni
The protein defect in congenital muscular dystrophy.
Biochemical Society transactions 1996;24(2):281S.
1996: Silvia Torelli; Francesco Muntoni
Alternative splicing of dystrophin exon 4 in normal human muscle.
Human genetics 1996;97(4):521-3.
1996: C A Sewry; J Philpot; L M Sorokin; L A Wilson; IS Naom; F Goodwin; M D'Alessandro; Victor Dubowitz; Francesco Muntoni
Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy.
Lancet 1996;347(9001):582-4.
1996: J Milasin; Francesco Muntoni; G M Severini; L Bartoloni; M Vatta; M Krajinovic; Anna Mateddu; Corrado Angelini; Fulvio Camerini; Arturo Falaschi; Luisa Mestroni; M Giacca
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.
Human molecular genetics 1996;5(1):73-9.
1995: AH Helbling-Leclerc; Haluk Topaloglu; Fernando M S Tomé; C Sewry; G Gyapay; IS Naom; Francesco Muntoni; Victor Dubowitz; Annie Barois; Brigitte Estournet
Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
Comptes rendus de l'Académie des sciences. Série III, Sciences de la vie 1995;318(12):1245-52.
1995: Carina Wallgren-Pettersson; Kristiina Avela; S Marchand; J Kolehmainen; Esa Tahvanainen; F J Hansen; Francesco Muntoni; Victor Dubowitz; Marianne De Visser; Irene van Langen
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.
Neuromuscular disorders : NMD 1995;5(6):441-3.
1995: Z Shorer; J Philpot; Francesco Muntoni; C Sewry; Victor Dubowitz
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy.
Journal of child neurology 1995;10(6):472-5.
1995: Francesco Muntoni; L Wilson; Giovanni Marrosu; Maria Giovanna Marrosu; Carlo Cianchetti; Luisa Mestroni; A Ganau; Victor Dubowitz; C Sewry
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.
The Journal of clinical investigation 1995;96(2):693-9.
1995: C A Sewry; J Philpot; D Mahony; L A Wilson; Francesco Muntoni; Victor Dubowitz
Expression of laminin subunits in congenital muscular dystrophy.
Neuromuscular disorders : NMD 1995;5(4):307-16.
1995: Eugenio Mercuri; Lilly Dubowitz; A Berardinelli; JM Pennock; Marian Jongmans; S Henderson; Francesco Muntoni; C Sewry; J Philpot; Victor Dubowitz
Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes.
Neuropediatrics 1995;26(3):156-62.
1995: Eugenio Mercuri; Francesco Muntoni; A Berardinelli; JM Pennock; C Sewry; J Philpot; Victor Dubowitz
Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status.
Neuropediatrics 1995;26(1):3-7.
1995: Francesco Muntoni; Maria Antonietta Melis; A Ganau; Victor Dubowitz
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.
American journal of human genetics 1995;56(1):151-7.
1995: J Philpot; Francesco Muntoni; S Skellett; Victor Dubowitz
Congenital symmetrical weakness of the upper limbs resembling brachial plexus palsy: a possible sequel of drug toxicity in first trimester of pregnancy?
Neuromuscular disorders : NMD 1995;5(1):67-9.
1994: Francesco Muntoni; P Gobbi; C Sewry; T Sherratt; J Taylor; S K Sandhu; Stephen Abbs; Roland Roberts; Shirley V Hodgson; Martin Bobrow
Deletions in the 5' region of dystrophin and resulting phenotypes.
Journal of medical genetics 1994;31(11):843-7.
1994: Maurizio Porcu; Francesco Muntoni; G Catani; D Mereu
Familial cardiac and skeletal myopathy associated with desmin accumulation.
Clinical cardiology 1994;17(5):277-9.
1994: Francesco Muntoni; G Catani; Anna Mateddu; M Rimoldi; Terenzio Congiu; Gavino Faa; Maria Giovanna Marrosu; Carlo Cianchetti; Maurizio Porcu
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments.
Neuromuscular disorders : NMD 1994;4(3):233-41.
1994: Carlo Cianchetti; A L Fratta; Francesco Muntoni; Giovanni Marrosu; Maria Giovanna Marrosu
Toxic effect of intraventricular interferon-alpha in subacute sclerosing panencephalitis.
Italian journal of neurological sciences 1994;15(3):153-5.
1993: Francesco Muntoni; Anna Mateddu; F Marchei; A Clerk; G Serra
Muscular weakness in the mdx mouse.
Journal of the neurological sciences 1993;120(1):71-7.
1993: Francesco Muntoni; Milena Cau; A Ganau; R Congiu; G Arvedi; Anna Mateddu; Maria Giovanna Marrosu; Carlo Cianchetti; G Realdi; Antonio Cao
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.
The New England journal of medicine 1993;329(13):921-5.
1993: Francesco Muntoni; Milena Cau; R Congiu; M Congia; Antonio Cao; Maria Antonietta Melis
Identification of a novel T-insertion polymorphism at the DMD locus.
Human genetics 1993;92(1):103.
1993: Francesco Cucca; Francesco Muntoni; R Lampis; Fulvia Frau; L Argiolas; M Silvetti; E Angius; Antonio Cao; Stefano De Virgiliis; Mauro Congia
Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia.
Human immunology 1993;37(2):85-94.
1993: Maria Antonietta Melis; Milena Cau; R Congiu; R Puddu; Francesco Muntoni; Antonio Cao
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.
Clinical genetics 1993;43(5):247-9.
1993: Francesco Cucca; Francesco Muntoni; R Lampis; Fulvia Frau; Antonio Cao; Stefano De Virgiliis; Mauro Congia
A novel HLA-DQB1 allele: evidence for gene conversion event promoted by chi-like sequence at DQB1 locus.
Tissue antigens 1993;41(5):263-6.
1993: David G Haegert; Francesco Muntoni; Maria Rita Murru; G Costa; G S Francis; Maria Giovanna Marrosu
HLA-DQA1 and -DQB1 associations with multiple sclerosis in Sardinia and French Canada: evidence for immunogenetically distinct patient groups.
Neurology 1993;43(3 Pt 1):548-52.
1993: Maria Giovanna Marrosu; Francesco Muntoni; Maria Rita Murru; G Costa; Mauro Congia; Giovanni Marrosu; Isidoro Aiello; Mario Pirastu; Carlo Cianchetti
Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis.
Archives of neurology 1993;50(3):256-60.
1993: A Clerk; Francesco Muntoni; Peter N Strong
A dystrophin-immunoreactive protein in mammalian brain.
Journal of neurochemistry 1993;60(2):435-41.
1993: Francesco Muntoni; Anna Mateddu; Carlo Cianchetti; Maria Giovanna Marrosu; A Clerk; Milena Cau; R Congiu; Antonio Cao; Maria Antonietta Melis
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.
Journal of neurology, neurosurgery, and psychiatry 1993;56(1):26-31.
1993: Francesco Muntoni; Anna Mateddu; Milena Cau; R Congiu; R Puddu; P Cossu; Antonio Cao; Maria Antonietta Melis
Diagnosis of DMD carrier status in a family with no known affected males.
Developmental medicine and child neurology 1993;35(1):70-3.
1992: Francesco Muntoni; Anna Mateddu; Maria Giovanna Marrosu; Milena Cau; R Congiu; Maria Antonietta Melis; Antonio Cao; Carlo Cianchetti
Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.
Clinical genetics 1992;42(1):35-8.
1992: Francesco Muntoni; Mauro Congia; Francesco Cucca; P Cossu; S Porcu; Fulvia Frau; M Arnone; M Songini; Sa Muntoni; Antonio Cao
The HLA DQB1*0502 allele is neutrally associated with insulin-dependent diabetes mellitus in the Sardinian population.
Tissue antigens 1992;39(5):262-5.
1992: Silvia Torelli; Valeria Sogos; Maria Grazia Ennas; Francesco Muntoni; A Clerk; Peter N Strong; Fulvia Gremo
Dystrophin immunoreactivity in normal and Duchenne human fetal neurons in culture.
Journal of neuroscience research 1992;32(1):116-25.
1992: Maria Giovanna Marrosu; Francesco Muntoni; Maria Rita Murru; G Costa; M P Pischedda; Mario Pirastu; Stefano Sotgiu; Giulio Rosati; Carlo Cianchetti
HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles.
Neurology 1992;42(4):883-6.
1992: Mauro Congia; Fulvia Frau; R Lampis; R Frau; R Mele; Francesco Cucca; Francesco Muntoni; S Porcu; F Boi; L Contu
A high frequency of the A30, B18, DR3, DRw52, DQw2 extended haplotype in Sardinian celiac disease patients: further evidence that disease susceptibility is conferred by DQ A1*0501, B1*0201.
Tissue antigens 1992;39(2):78-83.
1991: Francesco Muntoni; R Lampis; Fulvia Frau; L Argiolas; Maria Rita Murru; G Costa; Mauro Congia
A PvuII RFLP at D6S114E locus in the HLA region (RING4 locus).
Nucleic acids research 1991;19(24):6974.
1991: Francesco Muntoni; Maria Rita Murru; G Costa; Mauro Congia; Francesco Cucca; P Cossu; A Cao; L Dessalvi; Mario Pirastu; Maria Giovanna Marrosu
Different HLA DR2-DQw1 haplotypes in Sardinian and northern Italian populations: implications for multiple sclerosis susceptibility.
Tissue antigens 1991;38(1):34-6.
1991: Francesco Muntoni; Anna Mateddu; G Serra
Passive avoidance behaviour deficit in the mdx mouse.
Neuromuscular disorders : NMD 1991;1(2):121-3.
1989: E Rodillo; C M Noble-Jamieson; V Aber; J Z Heckmatt; Francesco Muntoni; Victor Dubowitz
Respiratory muscle training in Duchenne muscular dystrophy.
Archives of disease in childhood 1989;64(5):736-8.
1988: Maria Giovanna Marrosu; Francesco Muntoni; Maria Rita Murru; G Spinicci; M P Pischedda; F Goddi; P Cossu; Mario Pirastu
Sardinian multiple sclerosis is associated with HLA-DR4: a serologic and molecular analysis.
Neurology 1988;38(11):1749-53.