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Francesco Muntoni

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Anatomy

Skeletal Muscle

Chemicals & Drugs

Physiology

Concepts & Ideas

Procedures

Living Beings

Infant

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Publications

TOP 3
Manzur A Y; Muntoni F
Diagnosis and new treatments in muscular dystrophies.
Kinali Maria; Arechavala-Gomeza Virginia; Feng Lucy; Cirak Sebahattin; Hunt David; Adkin Carl; Guglieri Michela; Ashton Emma; Abbs Stephen; Nihoyannopoulos Petros; Garralda Maria Elena; Rutherford Mary; McCulley Caroline; Popplewell Linda; Graham Ian R; Dickson George; Wood Matthew J A; Wells Dominic J; Wilton Steve D; Kole Ryszard; Straub Volker; Bushby Kate; Sewry Caroline; Morgan Jennifer E; Muntoni Francesco
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.
Boldrin Luisa; Zammit Peter Steven; Muntoni Francesco; Morgan Jennifer Elizabeth
Mature adult dystrophic mouse muscle environment does not impede efficient engrafted satellite cell regeneration and self-renewal.

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All Publications

2009: Manzur A Y; Muntoni F
Diagnosis and new treatments in muscular dystrophies.
Postgraduate medical journal 2009;85(1009):622-30.
2009: Kinali Maria; Arechavala-Gomeza Virginia; Feng Lucy; Cirak Sebahattin; Hunt David; Adkin Carl; Guglieri Michela; Ashton Emma; Abbs Stephen; Nihoyannopoulos Petros; Garralda Maria Elena; Rutherford Mary; McCulley Caroline; Popplewell Linda; Graham Ian R; Dickson George; Wood Matthew J A; Wells Dominic J; Wilton Steve D; Kole Ryszard; Straub Volker; Bushby Kate; Sewry Caroline; Morgan Jennifer E; Muntoni Francesco
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: Boldrin Luisa; Zammit Peter Steven; Muntoni Francesco; Morgan Jennifer Elizabeth
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: Jimenez-Mallebrera Cecilia; Torelli Silvia; Feng Lucy; Kim Jihee; Godfrey Caroline; Clement Emma; Mein Rachael; Abbs Stephen; Brown Susan C; Campbell Kevin P; Kröger Stephan; Talim Beril; Topaloglu Haluk; Quinlivan Ros; Roper Helen; Childs Anne M; Kinali Maria; Sewry Caroline A; Muntoni Francesco
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: Mitrpant Chalermchai; Adams Abbie M; Meloni Penny L; Muntoni Francesco; Fletcher Sue; Wilton Steve D
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: Nadeau A; Kinali M; Main M; Jimenez-Mallebrera C; Aloysius A; Clement E; North B; Manzur A Y; Robb S A; Mercuri E; Muntoni F
Natural history of Ullrich congenital muscular dystrophy.
Neurology 2009;73(1):25-31.
2009: Manzur A Y; Muntoni F
Diagnosis and new treatments in muscular dystrophies.
Journal of neurology, neurosurgery, and psychiatry 2009;80(7):706-14.
2009: Mercuri Eugenio; Manzur Adnan; Main Marion; Alsopp Joanna; Muntoni Francesco
Is there post-natal muscle growth in amyoplasia? A sequential MRI study.
Neuromuscular disorders : NMD 2009;19(6):444-5.
2009: Muntoni F; Guicheney P; Voit T
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: Schessl Joachim; Taratuto Ana L; Sewry Caroline; Battini Roberta; Chin Steven S; Maiti Baijayanta; Dubrovsky Alberto L; Erro Marcela G; Espada Graciela; Robertella Monica; Saccoliti Maria; Olmos Patricia; Bridges Leslie R; Standring Peter; Hu Ying; Zou Yaqun; Swoboda Kathryn J; Scavina Mena; Goebel Hans-Hilmar; Mitchell Christina A; Flanigan Kevin M; Muntoni Francesco; Bönnemann Carsten G
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: Ackroyd M R; Skordis L; Kaluarachchi M; Godwin J; Prior S; Fidanboylu M; Piercy R J; Muntoni F; Brown S C
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: Hicks D; Lampe A K; Laval S H; Allamand V; Jimenez-Mallebrera C; Walter M C; Muntoni F; Quijano-Roy S; Richard P; Straub V; Lochmüller H; Bushby K M D
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: Brown Susan C; Piercy Richard J; Muntoni Francesco; Sewry Caroline A
Investigating the pathology of Emery-Dreifuss muscular dystrophy.
Biochemical Society transactions 2008;36(Pt 6):1335-8.
2008: Nadeau Amelie; Muntoni Francesco
Skin changes in Ullrich congenital muscular dystrophy.
Neuromuscular disorders : NMD 2008;18(12):982.
2008: Mercuri E; Mayhew A; Muntoni F; Messina S; Straub V; Van Ommen G J; Voit T; Bertini E; Bushby K;
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: Muntoni Francesco; Torelli Silvia; Brockington Martin
Muscular dystrophies due to glycosylation defects.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2008;5(4):627-32.
2008: Sewry Caroline A; Jimenez-Mallebrera Cecilia; Muntoni Francesco
Congenital myopathies.
Current opinion in neurology 2008;21(5):569-75.
2008: Otto Anthony; Schmidt Corina; Luke Graham; Allen Steve; Valasek Petr; Muntoni Francesco; Lawrence-Watt Diana; Patel Ketan
Canonical Wnt signalling induces satellite-cell proliferation during adult skeletal muscle regeneration.
Journal of cell science 2008;121(Pt 17):2939-50.
2008: Klein Andrea; Clement Emma; Mercuri Eugenio; Muntoni Francesco
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: Quijano-Roy Susana; Mbieleu Blaise; Bönnemann Carsten G; Jeannet Pierre-Yves; Colomer Jaume; Clarke Nigel F; Cuisset Jean-Marie; Roper Helen; De Meirleir Linda; D'Amico Adele; Ben Yaou Rabah; Nascimento Andrés; Barois Annie; Demay Laurence; Bertini Enrico; Ferreiro Ana; Sewry Caroline A; Romero Norma B; Ryan Monique; Muntoni Francesco; Guicheney Pascale; Richard Pascale; Bonne Gisèle; Estournet Brigitte
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Annals of neurology 2008;64(2):177-86.
2008: Pane Marika; Staccioli Susanna; Messina Sonia; D'Amico Adele; Pelliccioni Marco; Mazzone Elena S; Cuttini Marina; Alfieri Paolo; Battini Roberta; Main Marion; Muntoni Francesco; Bertini Enrico; Villanova Marcello; Mercuri Eugenio
Daily salbutamol in young patients with SMA type II.
Neuromuscular disorders : NMD 2008;18(7):536-40.
2008: Lampe A K; Zou Y; Sudano D; O'Brien K K; Hicks D; Laval S H; Charlton R; Jimenez-Mallebrera C; Zhang R-Z; Finkel R S; Tennekoon G; Schreiber G; van der Knaap M S; Marks H; Straub V; Flanigan K M; Chu M-L; Muntoni F; Bushby K M D; Bönnemann C G
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Human mutation 2008;29(6):809-22.
2008: Treves Susan; Jungbluth Heinz; Muntoni Francesco; Zorzato Francesco
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm.
Current opinion in pharmacology 2008;8(3):319-26.
2008: Schessl Joachim; Zou Yaqun; McGrath Meagan J; Cowling Belinda S; Maiti Baijayanta; Chin Steven S; Sewry Caroline; Battini Roberta; Hu Ying; Cottle Denny L; Rosenblatt Michael; Spruce Lynn; Ganguly Arupa; Kirschner Janbernd; Judkins Alexander R; Golden Jeffrey A; Goebel Hans-Hilmar; Muntoni Francesco; Flanigan Kevin M; Mitchell Christina A; Bönnemann Carsten G
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
The Journal of clinical investigation 2008;118(3):904-12.
2008: Muntoni Francesco; Bushby Kate D; van Ommen Gertjan
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: Clement Emma M; Godfrey Caroline; Tan Jenny; Brockington Martin; Torelli Silvia; Feng Lucy; Brown Susan C; Jimenez-Mallebrera Cecilia; Sewry Caroline A; Longman Cheryl; Mein Rachael; Abbs Steve; Vajsar Jiri; Schachter Harry; Muntoni Francesco
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
Archives of neurology 2008;65(1):137-41.
2008: Bovolenta Matteo; Neri Marcella; Fini Sergio; Fabris Marina; Trabanelli Cecilia; Venturoli Anna; Martoni Elena; Bassi Elena; Spitali Pietro; Brioschi Simona; Falzarano Maria S; Rimessi Paola; Ciccone Roberto; Ashton Emma; McCauley Joanne; Yau Shu; Abbs Stephen; Muntoni Francesco; Merlini Luciano; Gualandi Francesca; Ferlini Alessandra
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.
2007: Muntoni F; Brockington M; Godfrey C; Ackroyd M; Robb S; Manzur A; Kinali M; Mercuri E; Kaluarachchi M; Feng L; Jimenez-Mallebrera C; Clement E; Torelli S; Sewry C A; Brown S C
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: Neri Marcella; Torelli Silvia; Brown Sue; Ugo Isabella; Sabatelli Patrizia; Merlini Luciano; Spitali Pietro; Rimessi Paola; Gualandi Francesca; Sewry Caroline; Ferlini Alessandra; Muntoni Francesco
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: Muntoni Francesco; Wells Dominic
Genetic treatments in muscular dystrophies.
Current opinion in neurology 2007;20(5):590-4.
2007: Godfrey Caroline; Clement Emma; Mein Rachael; Brockington Martin; Smith Janine; Talim Beril; Straub Volker; Robb Stephanie; Quinlivan Ros; Feng Lucy; Jimenez-Mallebrera Cecilia; Mercuri Eugenio; Manzur Adnan Y; Kinali Maria; Torelli Silvia; Brown Susan C; Sewry Caroline A; Bushby Kate; Topaloglu Haluk; North Kathryn; Abbs Stephen; Muntoni Francesco
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain : a journal of neurology 2007;130(Pt 10):2725-35.
2007: Arechavala-Gomeza V; Graham I R; Popplewell L J; Adams A M; Aartsma-Rus A; Kinali M; Morgan J E; van Deutekom J C; Wilton S D; Dickson G; Muntoni F
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: Zhou Haiyan; Jungbluth Heinz; Sewry Caroline A; Feng Lucy; Bertini Enrico; Bushby Kate; Straub Volker; Roper Helen; Rose Michael R; Brockington Martin; Kinali Maria; Manzur Adnan; Robb Stephanie; Appleton Richard; Messina Sonia; D'Amico Adele; Quinlivan Ros; Swash Michael; Müller Clemens R; Brown Susan; Treves Susan; Muntoni Francesco
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Brain : a journal of neurology 2007;130(Pt 8):2024-36.
2007: Kaufmann P; Muntoni F;
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: Ramelli Gian Paolo; Aloysius Annie; King Caroline; Davis Trak; Muntoni Francesco
Gastrostomy placement in paediatric patients with neuromuscular disorders: indications and outcome.
Developmental medicine and child neurology 2007;49(5):367-71.
2007: Kinali M; Main M; Eliahoo J; Messina S; Knight R K; Lehovsky J; Edge G; Mercuri E; Manzur A Y; Muntoni F
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: Jungbluth Heinz; Zhou Haiyan; Sewry Caroline A; Robb Stephanie; Treves Susan; Bitoun Marc; Guicheney Pascale; Buj-Bello Anna; Bönnemann Carsten; Muntoni Francesco
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: Piercy Richard J; Zhou Haiyan; Feng Lucy; Pombo Ana; Muntoni Francesco; Brown Susan C
Desmin immunolocalisation in autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuromuscular disorders : NMD 2007;17(4):297-305.
2007: Main Marion; Mercuri Eugenio; Haliloglu Goknur; Baker Ros; Kinali Maria; Muntoni Francesco
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: Mercuri Eugenio; Pichiecchio Anna; Allsop Joanna; Messina Sonia; Pane Marika; Muntoni Francesco
Muscle MRI in inherited neuromuscular disorders: past, present, and future.
Journal of magnetic resonance imaging : JMRI 2007;25(2):433-40.
2007: Hartley L; Kinali M; Knight R; Mercuri E; Hubner C; Bertini E; Manzur A Y; Jimenez-Mallebrera C; Sewry C A; Muntoni F
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus.
Neuromuscular disorders : NMD 2007;17(2):174-9.
2007: Zorzato Francesco; Jungbluth Heinz; Zhou Haiyan; Muntoni Francesco; Treves Susan
Functional effects of mutations identified in patients with multiminicore disease.
IUBMB life 2007;59(1):14-20.
2006: James P A; Cader M Z; Muntoni F; Childs A-M; Crow Y J; Talbot K
Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
Neurology 2006;67(9):1710-2.
2006: Godfrey Caroline; Escolar Diana; Brockington Martin; Clement Emma M; Mein Rachael; Jimenez-Mallebrera Cecilia; Torelli Silvia; Feng Lucy; Brown Susan C; Sewry Caroline A; Rutherford Mary; Shapira Yehuda; Abbs Stephen; Muntoni Francesco
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
Annals of neurology 2006;60(5):603-10.
2006: Zhou Haiyan; Brockington Martin; Jungbluth Heinz; Monk David; Stanier Philip; Sewry Caroline A; Moore Gudrun E; Muntoni Francesco
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
American journal of human genetics 2006;79(5):859-68.
2006: Kinali M; Manzur A Y; Mercuri E; Gibson B E; Hartley L; Simonds A K; Muntoni F
UK physicians' attitudes and practices in long-term non-invasive ventilation of Duchenne Muscular Dystrophy.
Pediatric rehabilitation 2006;9(4):351-64.
2006: Jimenez-Mallebrera C; Maioli M A; Kim J; Brown S C; Feng L; Lampe A K; Bushby K; Hicks D; Flanigan K M; Bonnemann C; Sewry C A; Muntoni F
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: Lehtokari Vilma-Lotta; Pelin Katarina; Sandbacka Maria; Ranta Salla; Donner Kati; Muntoni Francesco; Sewry Caroline; Angelini Corrado; Bushby Kate; Van den Bergh Peter; Iannaccone Susan; Laing Nigel G; Wallgren-Pettersson Carina
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Human mutation 2006;27(9):946-56.
2006: Garralda M Elena; Muntoni Francesco; Cunniff Anna; Caneja Angeles Diaz
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: Mercuri E; D'Amico A; Tessa A; Berardinelli A; Pane M; Messina S; van Reeuwijk J; Bertini E; Muntoni F; Santorelli F M
POMT2 mutation in a patient with 'MEB-like' phenotype.
Neuromuscular disorders : NMD 2006;16(7):446-8.
2006: Kinali M; Messina S; Mercuri E; Lehovsky J; Edge G; Manzur A Y; Muntoni F
Management of scoliosis in Duchenne muscular dystrophy: a large 10-year retrospective study.
Developmental medicine and child neurology 2006;48(6):513-8.
2006: Muntoni F; Bonne G; Goldfarb L G; Mercuri E; Piercy R J; Burke M; Yaou R Ben; Richard P; Récan D; Shatunov A; Sewry C A; Brown S C
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: Ducreux Sylvie; Zorzato Francesco; Ferreiro Ana; Jungbluth Heinz; Muntoni Francesco; Monnier Nicole; Müller Clemens R; Treves Susan
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: Muntoni Francesco; Bushby Kate; Manzur Adnan Y
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: Gualandi F; Rimessi P; Trabanelli C; Spitali P; Neri M; Patarnello T; Angelini C; Yau S C; Abbs S; Muntoni F; Calzolari E; Ferlini A
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: Mercuri Eugenio; Topaloglu Haluk; Brockington Martin; Berardinelli Angela; Pichiecchio Anna; Santorelli Filippo; Rutherford Mary; Talim Beril; Ricci Enzo; Voit Thomas; Muntoni Francesco
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.
Archives of neurology 2006;63(2):251-7.
2006: Mercuri E; Messina S; Battini R; Berardinelli A; Boffi P; Bono R; Bruno C; Carboni N; Cini C; Colitto F; D'Amico A; Minetti C; Mirabella M; Mongini T; Morandi L; Dlamini N; Orcesi S; Pelliccioni M; Pane M; Pini A; Swan A V; Villanova M; Vita G; Main M; Muntoni F; Bertini E
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.
Neuromuscular disorders : NMD 2006;16(2):93-8.
2005: Brockington M; Muntoni F
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: Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb S A; Straub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry C A; Müller C; Muntoni F
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Neurology 2005;65(12):1930-5.
2005: Torelli Silvia; Brown Susan C; Brockington Martin; Dolatshad Nazanin F; Jimenez Cecilia; Skordis Leigh; Feng Lucy H; Merlini Luciano; Jones David Hilton; Romero Norma; Wewer Ulla; Voit Thomas; Sewry Caroline A; Noguchi Satoru; Nishino Ichizo; Muntoni Francesco
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: Senderek Jan; Krieger Michael; Stendel Claudia; Bergmann Carsten; Moser Markus; Breitbach-Faller Nico; Rudnik-Schöneborn Sabine; Blaschek Astrid; Wolf Nicole I; Harting Inga; North Kathryn; Smith Janine; Muntoni Francesco; Brockington Martin; Quijano-Roy Susana; Renault Francis; Herrmann Ralf; Hendershot Linda M; Schröder J Michael; Lochmüller Hanns; Topaloglu Haluk; Voit Thomas; Weis Joachim; Ebinger Friedrich; Zerres Klaus
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
Nature genetics 2005;37(12):1312-4.
2005: Brown Susan C; Torelli Silvia; Ugo Isabella; De Biasia Floriana; Howman Emily V; Poon Ellen; Britton Joanna; Davies Kay E; Muntoni Francesco
Syncoilin upregulation in muscle of patients with neuromuscular disease.
Muscle & nerve 2005;32(6):715-25.
2005: Bertini E; Burghes A; Bushby K; Estournet-Mathiaud B; Finkel R S; Hughes R A C; Iannaccone S T; Melki J; Mercuri E; Muntoni F; Voit T; Reitter B; Swoboda K J; Tiziano D; Tizzano E; Topaloglu H; Wirth B; Zerres K
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: Muntoni F; Voit T
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: Muntoni Francesco; Zafeiriou Dimitrios I; Jimenez Cecilia; Reuser Arnold; Sewry Caroline
A case presenting with delayed motor milestones.
Neuromuscular disorders : NMD 2005;15(11):817-8.
2005: Goodwin Fiona C; Muntoni Francesco
Cardiac involvement in muscular dystrophies: molecular mechanisms.
Muscle & nerve 2005;32(5):577-88.
2005: Mercuri Eugenio; Jungbluth Heinz; Muntoni Francesco
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: Vainzof Mariz; Richard Pascale; Herrmann Ralf; Jimenez-Mallebrera Cecilia; Talim Beril; Yamamoto Lydia U; Ledeuil Céline; Mein Rachael; Abbs Stephen; Brockington Martin; Romero Norma B; Zatz Mayana; Topaloglu Haluk; Voit Thomas; Sewry Caroline; Muntoni Francesco; Guicheney Pascale; Tomé Fernando M S
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: Dolatshad N F; Brockington M; Torelli S; Skordis L; Wever U; Wells D J; Muntoni F; Brown S C
Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells.
Experimental cell research 2005;309(2):370-8.
2005: Lucarini Laura; Giusti Betti; Zhang Rui-Zhu; Pan Te-Cheng; Jimenez-Mallebrera Cecilia; Mercuri Eugenio; Muntoni Francesco; Pepe Guglielmina; Chu Mon-Li
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: Sellick G S; Longman C; Brockington M; Mahjneh I; Sagi L; Bushby K; Topaloglu H; Muntoni F; Houlston R S
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
Human genetics 2005;117(2-3):207-12.
2005: Lucioli S; Giusti B; Mercuri E; Vanegas O Camacho; Lucarini L; Pietroni V; Urtizberea A; Ben Yaou R; de Visser M; van der Kooi A J; Bönnemann C; Iannaccone S T; Merlini L; Bushby K; Muntoni F; Bertini E; Chu M-L; Pepe G
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Neurology 2005;64(11):1931-7.
2005: Muntoni Francesco; Bushby Kate; van Ommen Gertjan
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: Mercuri E; Brown S C; Nihoyannopoulos P; Poulton J; Kinali M; Richard P; Piercy R J; Messina S; Sewry C; Burke M M; McKenna W; Bonne G; Muntoni F
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: Fisher Ivan; Abraham David; Bouri Khaled; Hoffman Eric P; Muntoni Francesco; Morgan Jennifer
Prednisolone-induced changes in dystrophic skeletal muscle.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2005;19(7):834-6.
2005: Jimenez-Mallebrera C; Brown S C; Sewry C A; Muntoni F
Congenital muscular dystrophy: molecular and cellular aspects.
Cellular and molecular life sciences : CMLS 2005;62(7-8):809-23.
2005: Mercuri Eugenio; Lampe Anne; Allsop Joanna; Knight Ravi; Pane Marika; Kinali Maria; Bonnemann Carsten; Flanigan Kevin; Lapini Ilaria; Bushby Kate; Pepe Guglielmina; Muntoni Francesco
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
Neuromuscular disorders : NMD 2005;15(4):303-10.
2005: Brockington Martin; Torelli Silvia; Prandini Paola; Boito Chiara; Dolatshad Nazanin F; Longman Cheryl; Brown Susan C; Muntoni Francesco
Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.
Human molecular genetics 2005;14(5):657-65.
2005: Mercuri Eugenio; Bushby Kate; Ricci Enzo; Birchall Daniel; Pane Marika; Kinali Maria; Allsop Joanna; Nigro Vincenzo; Sáenz Amets; Nascimbeni Annachiara; Fulizio Luigi; Angelini Corrado; Muntoni Francesco
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: Lampe A K; Dunn D M; von Niederhausern A C; Hamil C; Aoyagi A; Laval S H; Marie S K; Chu M-L; Swoboda K; Muntoni F; Bonnemann C G; Flanigan K M; Bushby K M D; Weiss R B
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: Rimessi Paola; Gualandi Francesca; Duprez Laurence; Spitali Pietro; Neri Marcella; Merlini Luciano; Calzolari Elisa; Muntoni Francesco; Ferlini Alessandra
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: Vasta Isabella; Kinali Maria; Messina Sonia; Guzzetta Andrea; Kapellou Olga; Manzur Adnan; Cowan Frances; Muntoni Francesco; Mercuri Eugenio
Can clinical signs identify newborns with neuromuscular disorders?
The Journal of pediatrics 2005;146(1):73-9.
2005: Ip Patrick; Knight Ravi; Dokal Inderjeet; Manzur Adnan Y; Muntoni Francesco
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.
2004: Kinali M; Banks L M; Mercuri E; Manzur A Y; Muntoni F
Bone mineral density in a paediatric spinal muscular atrophy population.
Neuropediatrics 2004;35(6):325-8.
2004: Majumdar A; Hartley L; Manzur A Y; King R H M; Orrell R W; Muntoni F
A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission.
Neuromuscular disorders : NMD 2004;14(12):818-21.
2004: Jungbluth Heinz; Davis Mark R; Müller Clemens; Counsell Serena; Allsop Joanna; Chattopadhyay Arijit; Messina Sonia; Mercuri Eugenio; Laing Nigel G; Sewry Caroline A; Bydder Graeme; Muntoni Francesco
Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
Neuromuscular disorders : NMD 2004;14(12):785-90.
2004: Jungbluth Heinz; Sewry Caroline A; Counsell Serena; Allsop Joanna; Chattopadhyay Arijit; Mercuri Eugenio; North Kathryn; Laing Nigel; Bydder Graeme; Pelin Katarina; Wallgren-Pettersson Carina; Muntoni Francesco
Magnetic resonance imaging of muscle in nemaline myopathy.
Neuromuscular disorders : NMD 2004;14(12):779-84.
2004: Poppe Maja; Bourke John; Eagle Michelle; Frosk Patrick; Wrogemann Klaus; Greenberg Cheryl; Muntoni Francesco; Voit Thomas; Straub Volker; Hilton-Jones David; Shirodaria Cheerag; Bushby Kate
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
Annals of neurology 2004;56(5):738-41.
2004: Jungbluth Heinz; Beggs Alan; Bönnemann Carsten; Bushby Kate; Ceuterick-de Groote Chantal; Estournet-Mathiaud Brigitte; Goemans Nathalie; Guicheney Pascale; Lescure Alain; Lunardi Joël; Muntoni Francesco; Quinlivan Ros; Sewry Caroline; Straub Volker; Treves Susan; Ferreiro Ana
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: Kurian M A; Hartley L; Zolkipli Z; Little M A; Costigan D; Naughten E R; Olpin S; Muntoni F; King M D
Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.
Neuropediatrics 2004;35(5):312-6.
2004: Messina S; Hartley L; Main M; Kinali M; Jungbluth H; Muntoni F; Mercuri E
Pilot trial of salbutamol in central core and multi-minicore diseases.
Neuropediatrics 2004;35(5):262-6.
2004: Torelli S; Brown S C; Jimenez-Mallebrera C; Feng L; Muntoni F; Sewry C A
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: Kinali M; Jungbluth H; Eunson L H; Sewry C A; Manzur A Y; Mercuri E; Hanna M G; Muntoni F
Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
Neuromuscular disorders : NMD 2004;14(10):689-93.
2004: Ducreux Sylvie; Zorzato Francesco; Müller Clemens; Sewry Caroline; Muntoni Francesco; Quinlivan Ros; Restagno Gabriella; Girard Thierry; Treves Susan
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: Muntoni Francesco
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: Bushby K; Muntoni F; Urtizberea A; Hughes R; Griggs R
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: Wallgren-Pettersson Carina; Pelin Katarina; Nowak Kristen J; Muntoni Francesco; Romero Norma B; Goebel Hans H; North Kathryn N; Beggs Alan H; Laing Nigel G;
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: Mercuri E; Lampe A; Straub V; Yuva Y; Longman C; Wright M; Brown S; Sewry C; Bonnemann C; Kinali M; Brockington M; Hausser I; Hilton Jones D; Voit T; Bushby K; Muntoni F
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity.
Neuropediatrics 2004;35(4):224-9.
2004: Longman Cheryl; Mercuri Eugenio; Cowan Frances; Allsop Joanna; Brockington Martin; Jimenez-Mallebrera Cecilia; Kumar Sailesh; Rutherford Mary; Toda Tatsushi; Muntoni Francesco
Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease.
Archives of neurology 2004;61(8):1301-6.
2004: Cohen N; Muntoni F
Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy.
Heart (British Cardiac Society) 2004;90(8):835-41.
2004: Brockington Martin; Brown Susan C; Lampe Anne; Yuva Yeliz; Feng Lucy; Jimenez-Mallebrera Cecilia; Sewry Caroline A; Flanigan Kevin M; Bushby Kate; Muntoni Francesco
Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry.
Prenatal diagnosis 2004;24(6):440-4.
2004: Mercuri Eugenio; Poppe Maja; Quinlivan Ros; Messina Sonia; Kinali Maria; Demay Laurence; Bourke John; Richard Pascale; Sewry Caroline; Pike Mike; Bonne Gisèle; Muntoni Francesco; Bushby Kate
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: Beltran-Valero de Bernabé D; Voit T; Longman C; Steinbrecher A; Straub V; Yuva Y; Herrmann R; Sperner J; Korenke C; Diesen C; Dobyns W B; Brunner H G; van Bokhoven H; Brockington M; Muntoni F
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Journal of medical genetics 2004;41(5):e61.
2004: Cohen Niaz; Rimessi Paola; Gualandi Francesca; Ferlini Alessandra; Muntoni Francesco
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: Muntoni Francesco; Brockington Martin; Torelli Silvia; Brown Susan C
Defective glycosylation in congenital muscular dystrophies.
Current opinion in neurology 2004;17(2):205-9.
2004: Longman Cheryl; Sewry Caroline A; Muntoni Francesco
Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.
Pediatric neurology 2004;30(2):125-8.
2004: Brown Susan C; Torelli Silvia; Brockington Martin; Yuva Yeliz; Jimenez Cecilia; Feng Lucy; Anderson Louise; Ugo Isabella; Kroger Stephan; Bushby Kate; Voit Thomas; Sewry Caroline; Muntoni Francesco
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.
The American journal of pathology 2004;164(2):727-37.
2004: Mercuri E; Messina S; Kinali M; Cini C; Longman C; Battini R; Cioni G; Muntoni F
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: Brown S C; Torelli S; Jimenez C; Muntoni F; Sewry C A
Immunopathology and molecular genetics of dystrophinopathies.
Supplements to Clinical neurophysiology 2004;57():313-21.
2004: Kinali M; Olpin S E; Clayton P T; Daubeney P E F; Mercuri E; Manzur A Y; Tein I; Leonard J; Muntoni F
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: Grohmann Katja; Varon Raymonda; Stolz Piroschka; Schuelke Markus; Janetzki Catrin; Bertini Enrico; Bushby Kate; Muntoni Francesco; Ouvrier Robert; Van Maldergem Lionel; Goemans Nathalie M L A; Lochmüller Hanns; Eichholz Stephan; Adams Coleen; Bosch Friedrich; Grattan-Smith Padraic; Navarro Carmen; Neitzel Heidemarie; Polster Tilman; Topaloglu Haluk; Steglich Christina; Guenther Ulf P; Zerres Klaus; Rudnik-Schöneborn Sabine; Hübner Christoph
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Annals of neurology 2003;54(6):719-24.
2003: Dinçer Pervin; Balci Burcu; Yuva Yeliz; Talim Beril; Brockington Martin; Dinçel Deniz; Torelli Silvia; Brown Sue; Kale Gülsev; Haliloglu Göknur; Gerçeker Filiz Ozbas; Atalay Rengül Cetin; Yakicier Cengiz; Longman Cheryl; Muntoni Francesco; Topaloglu Haluk
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: Muntoni Francesco; Torelli Silvia; Ferlini Alessandra
Dystrophin and mutations: one gene, several proteins, multiple phenotypes.
Lancet neurology 2003;2(12):731-40.
2003: Longman Cheryl; Brockington Martin; Torelli Silvia; Jimenez-Mallebrera Cecilia; Kennedy Colin; Khalil Nofal; Feng Lucy; Saran Ravindra K; Voit Thomas; Merlini Luciano; Sewry Caroline A; Brown Susan C; Muntoni Francesco
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: Hanks Sandra; Adams Sarah; Douglas Jenny; Arbour Laura; Atherton David J; Balci Sevim; Bode Harald; Campbell Mary E; Feingold Murray; Keser Gökhan; Kleijer Wim; Mancini Grazia; McGrath John A; Muntoni Francesco; Nanda Arti; Teare M Dawn; Warman Matthew; Pope F Michael; Superti-Furga Andrea; Futreal P Andrew; Rahman Nazneen
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: Muntoni Francesco
Cardiomyopathy in muscular dystrophies.
Current opinion in neurology 2003;16(5):577-83.
2003: Muntoni F; Valero de Bernabe B; Bittner R; Blake D; van Bokhoven H; Brockington M; Brown S; Bushby K; Campbell K P; Fiszman M; Gruenewald S; Merlini L; Quijano-Roy S; Romero N; Sabatelli P; Sewry C A; Straub V; Talim B; Topaloglu H; Voit T; Yurchenco P D; Urtizberea J A; Wewer U M; Guicheney P
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: Mercuri E; Cini C; Pichiecchio A; Allsop J; Counsell S; Zolkipli Z; Messina S; Kinali M; Brown S C; Jimenez C; Brockington M; Yuva Y; Sewry C A; Muntoni F
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype.
Neuromuscular disorders : NMD 2003;13(7-8):554-8.
2003: Gualandi F; Trabanelli C; Rimessi P; Calzolari E; Toffolatti L; Patarnello T; Kunz G; Muntoni F; Ferlini A
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: Bonne Gisèle; Yaou Rabah Ben; Béroud Christophe; Boriani Giuseppe; Brown Sue; de Visser Marianne; Duboc Denis; Ellis Juliet; Hausmanowa-Petrusewicz Irena; Lattanzi Giovanna; Merlini Luciano; Morris Glenn; Muntoni Francesco; Opolski Grzegorz; Pinto Yigal M; Sangiuolo Federica; Toniolo Daniela; Trembath Richard; van Berlo Jop H; van der Kooi Anneke J; Wehnert Manfred
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: Kristiansen M; Knudsen G P; Tanner S M; McEntagart M; Jungbluth H; Muntoni F; Sewry C; Gallati S; Ørstavik K H; Wallgren-Pettersson C
X-inactivation patterns in carriers of X-linked myotubular myopathy.
Neuromuscular disorders : NMD 2003;13(6):468-71.
2003: Gualandi Francesca; Rimessi Paola; Cardazzo Barbara; Toffolatti Luisa; Dunckley Matthew G; Calzolari Elisa; Patarnello Tomaso; Muntoni Francesco; Ferlini Alessandra
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: Zolkipli Z; Hartley L; Brown S; Rutherford M; Cowan F; Mercuri E; Muntoni F
Occipito-temporal polymicrogyria and subclinical muscular dystrophy.
Neuropediatrics 2003;34(2):92-5.
2003: Poppe M; Cree L; Bourke J; Eagle M; Anderson L V B; Birchall D; Brockington M; Buddles M; Busby M; Muntoni F; Wills A; Bushby K
The phenotype of limb-girdle muscular dystrophy type 2I.
Neurology 2003;60(8):1246-51.
2003: Mercuri Eugenio; Brockington Martin; Straub Volker; Quijano-Roy Susana; Yuva Yeliz; Herrmann Ralf; Brown Susan C; Torelli Silvia; Dubowitz Victor; Blake Derek J; Romero Norma B; Estournet Brigitte; Sewry Caroline A; Guicheney Pascale; Voit Thomas; Muntoni Francesco
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Annals of neurology 2003;53(4):537-42.
2003: Skordis Leigh A; Dunckley Matthew G; Yue Baigong; Eperon Ian C; Muntoni Francesco
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: Muntoni Francesco
Cardiac complications of childhood myopathies.
Journal of child neurology 2003;18(3):191-202.
2003: Topaloglu H; Brockington M; Yuva Y; Talim B; Haliloglu G; Blake D; Torelli S; Brown S C; Muntoni F
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.
Neurology 2003;60(6):988-92.
2003: Manzur Adnan Y; Muntoni Francesco; Simonds Anita
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: Davis M R; Haan E; Jungbluth H; Sewry C; North K; Muntoni F; Kuntzer T; Lamont P; Bankier A; Tomlinson P; Sánchez A; Walsh P; Nagarajan L; Oley C; Colley A; Gedeon A; Quinlivan R; Dixon J; James D; Müller C R; Laing N G
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: Jungbluth H; Sewry C A; Buj-Bello A; Kristiansen M; Ørstavik K H; Kelsey A; Manzur A Y; Mercuri E; Wallgren-Pettersson C; Muntoni F
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation.
Neuromuscular disorders : NMD 2003;13(1):55-9.
2003: Zolkipli Zarazuela; Longman Cheryl; Brown Sue; Rahman Nazneen; Holder S E; Muntoni Francesco
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: Muntoni F
Congenital muscular dystrophies (CMD).
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2003;7(5):229.
2003: Main Marion; Kairon Harvey; Mercuri Eugenio; Muntoni Francesco
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: Jiménez-Mallebrera Cecilia; Torelli Silvia; Brown Susan C; Feng Lucy; Brockington Martin; Sewry Caroline A; Beltrán-Valero De Bernabé Daniel; Muntoni Francesco
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: Jungbluth Heinz; Sewry Caroline A; Muntoni Francesco
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.
2002: Haliloglu G; Chattopadhyay A; Skorodis L; Manzur A; Mercuri E; Talim B; Akçören Z; Renda Y; Muntoni F; Topaloglu H
Spinal muscular atrophy with progressive myoclonic epilepsy: report of new cases and review of the literature.
Neuropediatrics 2002;33(6):314-9.
2002: Esapa Chris T; Benson Matthew A; Schröder Jörn E; Martin-Rendon Enca; Brockington Martin; Brown Susan C; Muntoni Francesco; Kröger Stephan; Blake Derek J
Functional requirements for fukutin-related protein in the Golgi apparatus.
Human molecular genetics 2002;11(26):3319-31.
2002: Pepe Guglielmina; Bertini Enrico; Bonaldo Paolo; Bushby Kate; Giusti Betti; de Visser Marianne; Guicheney Pascale; Lattanzi Giovanna; Merlini Luciano; Muntoni Francesco; Nishino Ichizo; Nonaka Ikuya; Yaou Rabah Ben; Sabatelli Patrizia; Sewry Caroline; Topaloglu Haluk; van der Kooi Anneke
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: Muntoni Francesco; Brockington Martin; Blake Derek J; Torelli Silvia; Brown Susan C
Defective glycosylation in muscular dystrophy.
Lancet 2002;360(9343):1419-21.
2002: Toffolatti Luisa; Cardazzo Barbara; Nobile Carlo; Danieli Gian Antonio; Gualandi Francesca; Muntoni Francesco; Abbs Steve; Zanetti Patrizia; Angelini Corrado; Ferlini Alessandra; Fanin Marina; Patarnello Tomaso
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: Muntoni F; Bertini E; Bönnemann C; Brockington M; Brown S; Bushby K; Fiszman M; Körner C; Mercuri E; Merlini L; Hewitt J; Quijano-Roy S; Romero N; Squarzoni S; Sewry C A; Straub V; Topaloglu H; Haliloglu G; Voit T; Wewer U; Guicheney P
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: McDonald Denise G M; Kinali Maria; Gallagher Andrew C; Mercuri Eugenio; Muntoni Francesco; Roper Helen; Jardine Philip; Jones David Hilton; Pike M G
Fracture prevalence in Duchenne muscular dystrophy.
Developmental medicine and child neurology 2002;44(10):695-8.
2002: Pelin Katarina; Donner Kati; Holmberg Maria; Jungbluth Heinz; Muntoni Francesco; Wallgren-Pettersson Carina
Nebulin mutations in autosomal recessive nemaline myopathy: an update.
Neuromuscular disorders : NMD 2002;12(7-8):680-6.
2002: Mercuri Eugenio; Talim Beril; Moghadaszadeh Behzad; Petit Nathalie; Brockington Martin; Counsell Serena; Guicheney Pascale; Muntoni Francesco; Merlini Luciano
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: Kinali Maria; Mercuri Eugenio; Main Marion; Muntoni Francesco; Dubowitz Victor
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: Muntoni Francesco; Fisher Ivan; Morgan Jennifer E; Abraham David
Steroids in Duchenne muscular dystrophy: from clinical trials to genomic research.
Neuromuscular disorders : NMD 2002;12 Suppl 1():S162-5.
2002: Ferreiro Ana; Quijano-Roy Susana; Pichereau Claire; Moghadaszadeh Behzad; Goemans Nathalie; Bönnemann Carsten; Jungbluth Heinz; Straub Volker; Villanova Marcello; Leroy Jean-Paul; Romero Norma B; Martin Jean-Jacques; Muntoni Francesco; Voit Thomas; Estournet Brigitte; Richard Pascale; Fardeau Michel; Guicheney Pascale
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: Kinali M; Mercuri E; Main M; De Biasia F; Karatza A; Higgins R; Banks L M; Manzur A Y; Muntoni F
Pilot trial of albuterol in spinal muscular atrophy.
Neurology 2002;59(4):609-10.
2002: Jungbluth H; Müller C R; Halliger-Keller B; Brockington M; Brown S C; Feng L; Chattopadhyay A; Mercuri E; Manzur A Y; Ferreiro A; Laing N G; Davis M R; Roper H P; Dubowitz V; Bydder G; Sewry C A; Muntoni F
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
Neurology 2002;59(2):284-7.
2002: Greener Marc J; Sewry Caroline A; Muntoni Francesco; Roberts Roland G
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: Mercuri Eugenio; Sewry Caroline; Brown Susan C; Muntoni Francesco
Congenital muscular dystrophies.
Seminars in pediatric neurology 2002;9(2):120-31.
2002: Muntoni Francesco; Brown Sue; Sewry Caroline; Patel Ketan
Muscle development genes: their relevance in neuromuscular disorders.
Neuromuscular disorders : NMD 2002;12(5):438-46.
2002: Deodato F; Sabatelli M; Ricci E; Mercuri E; Muntoni F; Sewry C; Naom I; Tonali P; Guzzetta F
Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.
Neuromuscular disorders : NMD 2002;12(4):392-8.
2002: Mercuri E; Yuva Y; Brown S C; Brockington M; Kinali M; Jungbluth H; Feng L; Sewry C A; Muntoni F
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study.
Neurology 2002;58(9):1354-9.
2002: Muntoni Francesco; Mestroni Luisa
[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: Pepe Guglielmina; de Visser Marianne; Bertini Enrico; Bushby Kate; Vanegas Olga Camacho; Chu Mon Li; Lattanzi Giovanna; Merlini Luciano; Muntoni Francesco; Urtizberea Andoni
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.
Neuromuscular disorders : NMD 2002;12(3):296-305.
2002: Mercuri E; Counsell S; Allsop J; Jungbluth H; Kinali M; Bonne G; Schwartz K; Bydder G; Dubowitz V; Muntoni F
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuropediatrics 2002;33(1):10-4.
2002: Merlini Luciano; Estournet-Mathiaud Brigitte; Iannaccone Susan; Melki Judith; Muntoni Francesco; Rudnik-Schöneborn Sabine; Topaloglu Haluk; Vita Giuseppe; Voit Thomas
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: Bonne Gisèle; Capeau Jaqueline; De Visser Marianne; Duboc Denis; Merlini Luciano; Morris Glenn E; Muntoni Francesco; Recan Dominique; Sewry Caroline; Squarzoni Stefano; Stewart Colin; Talim Beril; van der Kooi Anneke; Worman Howard; Schwartz Ketty
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: Muntoni Francesco; Guicheney Pascale
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.
2002: Mercuri Eugenio; Cini Claudio; Counsell Serena; Allsop Joanna; Zolkipli Zuella; Jungbluth Heinz; Sewry Caroline; Brown Susan C; Pepe Guglielmina; Muntoni Francesco
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: Dubowitz V; Kinali M; Main M; Mercuri E; Muntoni F
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.
2001: Tilgen N; Zorzato F; Halliger-Keller B; Muntoni F; Sewry C; Palmucci L M; Schneider C; Hauser E; Lehmann-Horn F; Müller C R; Treves S
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: Brockington M; Yuva Y; Prandini P; Brown S C; Torelli S; Benson M A; Herrmann R; Anderson L V; Bashir R; Burgunder J M; Fallet S; Romero N; Fardeau M; Straub V; Storey G; Pollitt C; Richard I; Sewry C A; Bushby K; Voit T; Blake D J; Muntoni F
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: Brockington M; Blake D J; Prandini P; Brown S C; Torelli S; Benson M A; Ponting C P; Estournet B; Romero N B; Mercuri E; Voit T; Sewry C A; Guicheney P; Muntoni F
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: Grohmann K; Schuelke M; Diers A; Hoffmann K; Lucke B; Adams C; Bertini E; Leonhardt-Horti H; Muntoni F; Ouvrier R; Pfeufer A; Rossi R; Van Maldergem L; Wilmshurst J M; Wienker T F; Sendtner M; Rudnik-Schöneborn S; Zerres K; Hübner C
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: Moghadaszadeh B; Petit N; Jaillard C; Brockington M; Roy S Q; Merlini L; Romero N; Estournet B; Desguerre I; Chaigne D; Muntoni F; Topaloglu H; Guicheney P
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Nature genetics 2001;29(1):17-8.
2001: Philpot J; Counsell S; Bydder G; Sewry C A; Dubowitz V; Muntoni F
Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?
Neuromuscular disorders : NMD 2001;11(5):489-93.
2001: Skordis L A; Dunckley M G; Burglen L; Campbell L; Talbot K; Patel S; Melki J; Davies K E; Dubowitz V; Muntoni F
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: Dodds E; Dunckley M G; Roberts R G; Muntoni F; Shaw C E
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: Brown S C; Muntoni F; Sewry C A
Non-sarcolemmal muscular dystrophies.
Brain pathology (Zurich, Switzerland) 2001;11(2):193-205.
2001: Mercuri E; Rutherford M; De Vile C; Counsell S; Sewry C; Brown S; Bydder G; Dubowitz V; Muntoni F
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: Pogue R; Anderson L V; Pyle A; Sewry C; Pollitt C; Johnson M A; Davison K; Moss J A; Mercuri E; Muntoni F; Bushby K M
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies.
Neuromuscular disorders : NMD 2001;11(1):80-7.
2001: Jungbluth H; Sewry C A; Brown S C; Nowak K J; Laing N G; Wallgren-Pettersson C; Pelin K; Manzur A Y; Mercuri E; Dubowitz V; Muntoni F
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.
2001: Mercuri E; Muntoni F
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.
2000: Mercuri E; Sewry C A; Brown S C; Brockington M; Jungbluth H; DeVile C; Counsell S; Manzur A; Muntoni F
Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
Neuropediatrics 2000;31(4):186-9.
2000: Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane H M; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein E M; Eymard B; Duboc D; Penisson-Besnier I; Cuisset J M; Ferrer X; Desguerre I; Lacombe D; Bushby K; Pollitt C; Toniolo D; Fardeau M; Schwartz K; Muntoni F
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: Jungbluth H; Sewry C; Brown S C; Manzur A Y; Mercuri E; Bushby K; Rowe P; Johnson M A; Hughes I; Kelsey A; Dubowitz V; Muntoni F
Minicore myopathy in children: a clinical and histopathological study of 19 cases.
Neuromuscular disorders : NMD 2000;10(4-5):264-73.
2000: Mercuri E; Manzur A Y; Jungbluth H; Bonne G; Muchir A; Sewry C; Schwartz K; Muntoni F
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).
Neurology 2000;54(8):1704-5.
2000: Jin H; Gardner R J; Viswesvaraiah R; Muntoni F; Roberts R G
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: Jungbluth H; Manzur A Y; Bydder G; Muntoni F
Generalized calcification in a case of dermatomyositis.
Neuromuscular disorders : NMD 2000;10(2):150.
2000: Brockington M; Sewry C A; Herrmann R; Naom I; Dearlove A; Rhodes M; Topaloglu H; Dubowitz V; Voit T; Muntoni F
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: Naom I; D'alessandro M; Sewry C A; Jardine P; Ferlini A; Moss T; Dubowitz V; Muntoni F
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.
2000: Philpot J; Pennock J; Cowan F; Sewry C A; Dubowitz V; Bydder G; Muntoni F
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: Jungbluth H; Rees M I; Manzur A Y; Mercuri E; Sewry C A; Gobbi P; Muntoni F
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: Bolland E; Manzur A Y; Milward T M; Muntoni F
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: Mercuri E; Goodwin F; Sewry C; Dubowitz V; Muntoni F
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.
1999: Muntoni F; Ferlini A; Sewry C; Mateddu A; Marrosu G; Porcu M; Di Lenarda A; Sinagra G; Mestroni L
Dilated cardiomyopathy and muscular dystrophies: which lesson can be learned?
Cardiologia (Rome, Italy) 1999;44 Suppl 1(Pt 1):209-11.
1999: Wallgren-Pettersson C; Pelin K; Hilpelä P; Donner K; Porfirio B; Graziano C; Swoboda K J; Fardeau M; Urtizberea J A; Muntoni F; Sewry C; Dubowitz V; Iannaccone S; Minetti C; Pedemonte M; Seri M; Cusano R; Lammens M; Castagna-Sloane A; Beggs A H; Laing N G; de la Chapelle A
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
Neuromuscular disorders : NMD 1999;9(8):564-72.
1999: Torelli S; Ferlini A; Obici L; Sewry C; Muntoni F
Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle.
Neuromuscular disorders : NMD 1999;9(8):541-51.
1999: Mercuri E; Poulton J; Buck J; Broadbent V; Bamford M; Jungbluth H; Manzur A Y; Muntoni F
Vincristine treatment revealing asymptomatic hereditary motor sensory neuropathy type 1A.
Archives of disease in childhood 1999;81(5):442-3.
1999: Gnecchi-Ruscone T; Taylor J; Mercuri E; Paternostro G; Pogue R; Bushby K; Sewry C; Muntoni F; Camici P G
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction?
Muscle & nerve 1999;22(11):1549-56.
1999: Muntoni F; Goodwin F; Sewry C; Cox P; Cowan F; Airaksinen E; Patel S; Ignatius J; Dubowitz V
Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.
Neuropediatrics 1999;30(5):243-8.
1999: Sewry C A; Muntoni F
Inherited disorders of the extracellular matrix.
Current opinion in neurology 1999;12(5):519-26.
1999: Beckmann J S; Brown R H; Muntoni F; Urtizberea A; Bonnemann C; Bushby K M
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: Mercuri E; Gruter-Andrew J; Philpot J; Sewry C; Counsell S; Henderson S; Jensen A; Naom I; Bydder G; Dubowitz V; Muntoni F
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: Moghadaszadeh B; Topaloglu H; Merlini L; Muntoni F; Estournet B; Sewry C; Naom I; Barois A; Fardeau M; Tomé F M; Guicheney P
Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
Neuromuscular disorders : NMD 1999;9(6-7):376-82.
1999: D'Alessandro M; Naom I; Ferlini A; Sewry C; Dubowitz V; Muntoni F
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?
Human genetics 1999;105(4):308-13.
1999: Nowak K J; Wattanasirichaigoon D; Goebel H H; Wilce M; Pelin K; Donner K; Jacob R L; Hübner C; Oexle K; Anderson J R; Verity C M; North K N; Iannaccone S T; Müller C R; Nürnberg P; Muntoni F; Sewry C; Hughes I; Sutphen R; Lacson A G; Swoboda K J; Vigneron J; Wallgren-Pettersson C; Beggs A H; Laing N G
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nature genetics 1999;23(2):208-12.
1999: Ferlini A; Sewry C; Melis M A; Mateddu A; Muntoni F
X-linked dilated cardiomyopathy and the dystrophin gene.
Neuromuscular disorders : NMD 1999;9(5):339-46.
1999: Philpot J; Bagnall A; King C; Dubowitz V; Muntoni F
Feeding problems in merosin deficient congenital muscular dystrophy.
Archives of disease in childhood 1999;80(6):542-7.
1999: Philpot J; Cowan F; Pennock J; Sewry C; Dubowitz V; Bydder G; Muntoni F
Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.
Neuromuscular disorders : NMD 1999;9(2):81-5.
1999: Bonne G; Di Barletta M R; Varnous S; Bécane H M; Hammouda E H; Merlini L; Muntoni F; Greenberg C R; Gary F; Urtizberea J A; Duboc D; Fardeau M; Toniolo D; Schwartz K
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Nature genetics 1999;21(3):285-8.
1999: Pelin K; Hilpelä P; Donner K; Sewry C; Akkari P A; Wilton S D; Wattanasirichaigoon D; Bang M L; Centner T; Hanefeld F; Odent S; Fardeau M; Urtizberea J A; Muntoni F; Dubowitz V; Beggs A H; Laing N G; Labeit S; de la Chapelle A; Wallgren-Pettersson C
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: Mahjneh I; Bushby K; Anderson L; Muntoni F; Tolvanen-Mahjneh H; Bashir R; Pizzi A; Brockington M; Marconi G
Merosin-positive congenital muscular dystrophy: a large inbred family.
Neuropediatrics 1999;30(1):22-8.
1998: Naom I; D'Alessandro M; Sewry C A; Philpot J; Manzur A Y; Dubowitz V; Muntoni F
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1998;8(7):495-501.
1998: Manzur A Y; Sewry C A; Ziprin J; Dubowitz V; Muntoni F
A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance.
Neuromuscular disorders : NMD 1998;8(7):467-73.
1998: Taylor J; Sewry C A; Dubowitz V; Muntoni F
Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression.
Neurology 1998;51(4):1116-20.
1998: Spyrou N; Philpot J; Foale R; Camici P G; Muntoni F
Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy.
American heart journal 1998;136(3):474-6.
1998: Ferlini A; Galié N; Merlini L; Sewry C; Branzi A; Muntoni F
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: Marrosu M G; Murru M R; Costa G; Murru R; Muntoni F; Cucca F
DRB1-DQA1-DQB1 loci and multiple sclerosis predisposition in the Sardinian population.
Human molecular genetics 1998;7(8):1235-7.
1998: Moghadaszadeh B; Desguerre I; Topaloglu H; Muntoni F; Pavek S; Sewry C; Mayer M; Fardeau M; Tomé F M; Guicheney P
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: Mercuri E; Anker S; Philpot J; Sewry C; Dubowitz V; Muntoni F
Visual function in children with merosin-deficient and merosin-positive congenital muscular dystrophy.
Pediatric neurology 1998;18(5):399-401.
1998: Marrosu M G; Vaccargiu S; Marrosu G; Vannelli A; Cianchetti C; Muntoni F
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene.
Neurology 1998;50(5):1397-401.
1998: Manilal S; Recan D; Sewry C A; Hoeltzenbein M; Llense S; Leturcq F; Deburgrave N; Barbot J; Man N; Muntoni F; Wehnert M; Kaplan J; Morris G E
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression.
Human molecular genetics 1998;7(5):855-64.
1998: Muntoni F; Lichtarowicz-Krynska E J; Sewry C A; Manilal S; Recan D; Llense S; Taylor J; Morris G E; Dubowitz V
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1998;8(2):72-6.
1998: Bushby K; Anderson L V; Pollitt C; Naom I; Muntoni F; Bindoff L
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: Ferlini A; Muntoni F
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: Cianchetti C; Marrosu M G; Muntoni F; Fratta A; Zuddas A
Intraventricular alpha-interferon in subacute sclerosing panencephalitis.
Neurology 1998;50(1):315-6.
1998: Muntoni F; Taylor J; Sewry C A; Naom I; Dubowitz V
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: Melis M A; Cau M; Muntoni F; Mateddu A; Galanello R; Boccone L; Deidda F; Loi D; Cao A
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: Cau M; Cao A; Loi D; Puddu A; Muntoni F; Mateddu A; Melis M A
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: Melis M A; Muntoni F; Cau M; Loi D; Puddu A; Boccone L; Mateddu A; Cianchetti C; Cao A
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.
1997: Muntoni F; Di Lenarda A; Porcu M; Sinagra G; Mateddu A; Marrosu G; Ferlini A; Cau M; Milasin J; Melis M A; Marrosu M G; Cianchetti C; Sanna A; Falaschi A; Camerini F; Giacca M; Mestroni L
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.
Heart (British Cardiac Society) 1997;78(6):608-12.
1997: Taylor J; Muntoni F; Dubowitz V; Sewry C A
The abnormal expression of utrophin in Duchenne and Becker muscular dystrophy is age related.
Neuropathology and applied neurobiology 1997;23(5):399-405.
1997: Marrosu M G; Murru M R; Costa G; Cucca F; Sotgiu S; Rosati G; Muntoni F
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: Sewry C A; D'Alessandro M; Wilson L A; Sorokin L M; Naom I; Bruno S; Ferlini A; Dubowitz V; Muntoni F
Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.
Neuropediatrics 1997;28(4):217-22.
1997: Taylor J; Muntoni F; Robb S; Dubowitz V; Sewry C
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: Talbot K; Rodrigues N R; Ignatius J; Muntoni F; Davies K E
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: Naom I; Sewry C; D'Alessandro M; Topaloglu H; Ferlini A; Wilson L; Dubowitz V; Muntoni F
Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.
Neuromuscular disorders : NMD 1997;7(3):176-9.
1997: Sewry C A; Naom I; D'Alessandro M; Sorokin L; Bruno S; Wilson L A; Dubowitz V; Muntoni F
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: Naom I; D'Alessandro M; Sewry C; Ferlini A; Topaloglu H; Helbling-Leclerc A; Guicheney P; Schwartz K; Akcoren Z; Dubowitz V; Muntoni F
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: Tan E; Topaloglu H; Sewry C; Zorlu Y; Naom I; Erdem S; D'Alessandro M; Muntoni F; Dubowitz V
Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.
Neuromuscular disorders : NMD 1997;7(2):85-9.
1997: Marrosu M G; Vaccargiu S; Marrosu G; Vannelli A; Cianchetti C; Muntoni F
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: Naom I S; D'Alessandro M; Topaloglu H; Sewry C; Ferlini A; Helbling-Leclerc A; Guicheney P; Weissenbach J; Schwartz K; Bushby K; Philpot J; Dubowitz V; Muntoni F
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: Manilal S; Sewry C A; Man N; Muntoni F; Morris G E
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: Topaloglu H; Muntoni F; Dubowitz V; Sewry C
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.
1997: Goodwin F; Muntoni F; Dubowitz V
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.
1996: Sewry C A; Taylor J; Anderson L V; Ozawa E; Pogue R; Piccolo F; Bushby K; Dubowitz V; Muntoni F
Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy.
Neuromuscular disorders : NMD 1996;6(6):467-74.
1996: Mercuri E; Pennock J; Goodwin F; Sewry C; Cowan F; Dubowitz L; Dubowitz V; Muntoni F
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: Murru M R; Costa G; Murru R; Muntoni F; Marrosu M G
A new allelic variant of HLA-DRB1*1101 (DRB1*11013) segregating in a Sardinian family.
Tissue antigens 1996;48(5):604-6.
1996: Sewry C A; Naom I; D'Alessandro M; Ferlini A; Philpot J; Mercuri E; Dubowitz V; Muntoni F
The protein defect in congenital muscular dystrophy.
Biochemical Society transactions 1996;24(2):281S.
1996: Torelli S; Muntoni F
Alternative splicing of dystrophin exon 4 in normal human muscle.
Human genetics 1996;97(4):521-3.
1996: Sewry C A; Philpot J; Sorokin L M; Wilson L A; Naom I; Goodwin F; D'Alessandro M; Dubowitz V; Muntoni F
Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy.
Lancet 1996;347(9001):582-4.
1996: Milasin J; Muntoni F; Severini G M; Bartoloni L; Vatta M; Krajinovic M; Mateddu A; Angelini C; Camerini F; Falaschi A; Mestroni L; Giacca M
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: Helbling-Leclerc A; Topaloglu H; Tomé F M; Sewry C; Gyapay G; Naom I; Muntoni F; Dubowitz V; Barois A; Estournet B
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: Wallgren-Pettersson C; Avela K; Marchand S; Kolehmainen J; Tahvanainen E; Hansen F J; Muntoni F; Dubowitz V; De Visser M; Van Langen I M
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.
Neuromuscular disorders : NMD 1995;5(6):441-3.
1995: Shorer Z; Philpot J; Muntoni F; Sewry C; Dubowitz V
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy.
Journal of child neurology 1995;10(6):472-5.
1995: Muntoni F; Wilson L; Marrosu G; Marrosu M G; Cianchetti C; Mestroni L; Ganau A; Dubowitz V; Sewry C
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.
The Journal of clinical investigation 1995;96(2):693-9.
1995: Sewry C A; Philpot J; Mahony D; Wilson L A; Muntoni F; Dubowitz V
Expression of laminin subunits in congenital muscular dystrophy.
Neuromuscular disorders : NMD 1995;5(4):307-16.
1995: Mercuri E; Dubowitz L; Berardinelli A; Pennock J; Jongmans M; Henderson S; Muntoni F; Sewry C; Philpot J; Dubowitz V
Minor neurological and perceptuo-motor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes.
Neuropediatrics 1995;26(3):156-62.
1995: Mercuri E; Muntoni F; Berardinelli A; Pennock J; Sewry C; Philpot J; Dubowitz V
Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status.
Neuropediatrics 1995;26(1):3-7.
1995: Muntoni F; Melis M A; Ganau A; Dubowitz V
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: Philpot J; Muntoni F; Skellett S; Dubowitz V
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: Muntoni F; Gobbi P; Sewry C; Sherratt T; Taylor J; Sandhu S K; Abbs S; Roberts R; Hodgson S V; Bobrow M
Deletions in the 5' region of dystrophin and resulting phenotypes.
Journal of medical genetics 1994;31(11):843-7.
1994: Porcu M; Muntoni F; Catani G; Mereu D
Familial cardiac and skeletal myopathy associated with desmin accumulation.
Clinical cardiology 1994;17(5):277-9.
1994: Muntoni F; Catani G; Mateddu A; Rimoldi M; Congiu T; Faa G; Marrosu M G; Cianchetti C; Porcu M
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments.
Neuromuscular disorders : NMD 1994;4(3):233-41.
1994: Cianchetti C; Fratta A L; Muntoni F; Marrosu G; Marrosu M G
Toxic effect of intraventricular interferon-alpha in subacute sclerosing panencephalitis.
Italian journal of neurological sciences 1994;15(3):153-5.
1993: Muntoni F; Mateddu A; Marchei F; Clerk A; Serra G
Muscular weakness in the mdx mouse.
Journal of the neurological sciences 1993;120(1):71-7.
1993: Muntoni F; Cau M; Ganau A; Congiu R; Arvedi G; Mateddu A; Marrosu M G; Cianchetti C; Realdi G; Cao A
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: Muntoni F; Cau M; Congiu R; Congia M; Cao A; Melis M A
Identification of a novel T-insertion polymorphism at the DMD locus.
Human genetics 1993;92(1):103.
1993: Cucca F; Muntoni F; Lampis R; Frau F; Argiolas L; Silvetti M; Angius E; Cao A; De Virgiliis S; Congia M
Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia.
Human immunology 1993;37(2):85-94.
1993: Melis M A; Cau M; Congiu R; Puddu R; Muntoni F; Cao A
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.
Clinical genetics 1993;43(5):247-9.
1993: Cucca F; Muntoni F; Lampis R; Frau F; Cao A; De Virgiliis S; Congia M
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: Haegert D G; Muntoni F; Murru M R; Costa G; Francis G S; Marrosu M G
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: Marrosu M G; Muntoni F; Murru M R; Costa G; Congia M; Marrosu G; Aiello I; Pirastu M; Cianchetti C
Role of predisposing and protective HLA-DQA and HLA-DQB alleles in Sardinian multiple sclerosis.
Archives of neurology 1993;50(3):256-60.
1993: Clerk A; Muntoni F; Strong P N
A dystrophin-immunoreactive protein in mammalian brain.
Journal of neurochemistry 1993;60(2):435-41.
1993: Muntoni F; Mateddu A; Cianchetti C; Marrosu M G; Clerk A; Cau M; Congiu R; Cao A; Melis M A
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: Muntoni F; Mateddu A; Cau M; Congiu R; Puddu R; Cossu P; Cao A; Melis M A
Diagnosis of DMD carrier status in a family with no known affected males.
Developmental medicine and child neurology 1993;35(1):70-3.
1992: Muntoni F; Mateddu A; Marrosu M G; Cau M; Congiu R; Melis M A; Cao A; Cianchetti C
Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.
Clinical genetics 1992;42(1):35-8.
1992: Muntoni F; Congia M; Cucca F; Cossu P; Porcu S; Frau F; Arnone M; Songini M; Muntoni S; Cao A
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: Torelli S; Sogos V; Ennas M G; Muntoni F; Clerk A; Strong P N; Gremo F
Dystrophin immunoreactivity in normal and Duchenne human fetal neurons in culture.
Journal of neuroscience research 1992;32(1):116-25.
1992: Marrosu M G; Muntoni F; Murru M R; Costa G; Pischedda M P; Pirastu M; Sotgiu S; Rosati G; Cianchetti C
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: Congia M; Frau F; Lampis R; Frau R; Mele R; Cucca F; Muntoni F; Porcu S; Boi F; Contu L
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: Muntoni F; Lampis R; Frau F; Argiolas L; Murru M R; Costa G; Congia M
A PvuII RFLP at D6S114E locus in the HLA region (RING4 locus).
Nucleic acids research 1991;19(24):6974.
1991: Muntoni F; Murru M R; Costa G; Congia M; Cucca F; Cossu P; Cao A; Dessalvi L; Pirastu M; Marrosu M G
Different HLA DR2-DQw1 haplotypes in Sardinian and northern Italian populations: implications for multiple sclerosis susceptibility.
Tissue antigens 1991;38(1):34-6.
1991: Muntoni F; Mateddu A; Serra G
Passive avoidance behaviour deficit in the mdx mouse.
Neuromuscular disorders : NMD 1991;1(2):121-3.
1989: Rodillo E; Noble-Jamieson C M; Aber V; Heckmatt J Z; Muntoni F; Dubowitz V
Respiratory muscle training in Duchenne muscular dystrophy.
Archives of disease in childhood 1989;64(5):736-8.
1988: Marrosu M G; Muntoni F; Murru M R; Spinicci G; Pischedda M P; Goddi F; Cossu P; Pirastu M
Sardinian multiple sclerosis is associated with HLA-DR4: a serologic and molecular analysis.
Neurology 1988;38(11):1749-53.

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