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Maria Kinali

Research Profile

Disorders

Anatomy

Muscle, Skeletal

Physiology

Living Beings

Infants

Chemicals & Drugs

Concepts & Ideas

Procedures

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Publications

TOP 3
Roman Cregg; Henry Houlden; Kevin J Howell; Karen Agnew; David L H Bennett; Istvan Bodi; Ya-Chun Chen; James Cox; Bisola Laguda; John E Linley; Michael P Lunn; Michael Markiewicz; Juan D Ramirez; Robert Werdehausen; John N Wood; Maria Kinali
Novel mutations mapping to the fourth sodium channel domain of nav1.7 result in variable clinical manifestations of primary erythromelalgia.
Ingrid E Scheffer; Zaid Afawi; Ian Andrews; Samuel F Berkovic; Hadassa Goldberg-Stern; Bronwyn E Grinton; Renzo Guerrini; Sarah E Heron; Xenia Iona; Maria Kinali; Sara Kivity; Carla Marini; Lynette G Sadleir; Leanne M Dibbens
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Maria Elena Garralda; Michela Guglieri; Maria Kinali; Kate Bushby; Sebahattin Cirak; Volker Straub; Francesco Muntoni
Emotional impact of a paediatric exon-skipping therapy trial.

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All Publications

2013: Roman Cregg; Henry Houlden; Kevin J Howell; Karen Agnew; David L H Bennett; Istvan Bodi; Ya-Chun Chen; James Cox; Bisola Laguda; John E Linley; Michael P Lunn; Michael Markiewicz; Juan D Ramirez; Robert Werdehausen; John N Wood; Maria Kinali
Novel mutations mapping to the fourth sodium channel domain of nav1.7 result in variable clinical manifestations of primary erythromelalgia.
Neuromolecular medicine 2013;15(2):265-78.
2012: Ingrid E Scheffer; Zaid Afawi; Ian Andrews; Samuel F Berkovic; Hadassa Goldberg-Stern; Bronwyn E Grinton; Renzo Guerrini; Sarah E Heron; Xenia Iona; Maria Kinali; Sara Kivity; Carla Marini; Lynette G Sadleir; Leanne M Dibbens
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Neurology 2012;79(21):2104-8.
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: Rossa Brugha; Kingi Aminu; Nicola Bridges; Maria Kinali; Sue E Holder
Genitopatellar syndrome: a further case.
Clinical dysmorphology 2011;20(3):163-5.
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: 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: 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.
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: 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.
2008: Sonia Messina; Marika Pane; Paola De Rose; Isabella Vasta; Domenica Sorleti; Annie Aloysius; Federico Sciarra; Fortunato Mangiola; Maria Kinali; Enrico Bertini; Eugenio Mercuri
Feeding problems and malnutrition in spinal muscular atrophy type II.
Neuromuscular disorders : NMD 2008;18(5):389-93.
2008: A Aloysius; P Born; Maria Kinali; T Davis; M Pane; Eugenio Mercuri
Swallowing difficulties in Duchenne muscular dystrophy: indications for feeding assessment and outcome of videofluroscopic swallow studies.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2008;12(3):239-45.
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: 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: 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: Maria Kinali; R Robinson; Adnan Y Manzur; C P Burren; Stephanie Robb
Backache in a Duchenne boy.
Neuromuscular disorders : NMD 2007;17(4):346-8.
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: 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: Eugenio Mercuri; Enrico Bertini; Sonia Messina; A Solari; Adele D'Amico; Carla Angelozzi; R Battini; Angela Berardinelli; P Boffi; Claudio Bruno; Claudio Cini; Francesca Colitto; Maria Kinali; Carlo Minetti; Tiziana Mongini; Lucia Morandi; Giovanni Neri; Simona Orcesi; Marika Pane; Marco Pelliccioni; Antonella Pini; Francesco D Tiziano; Marcello Villanova; Giuseppe Vita; Christina Brahe
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.
Neurology 2007;68(1):51-5.
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: Marika Pane; Isabella Vasta; Sonia Messina; Domenica Sorleti; Annie Aloysius; Federico Sciarra; Fortunato Mangiola; Maria Kinali; Enzo Ricci; Eugenio Mercuri
Feeding problems and weight gain in Duchenne muscular dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2006;10(5-6):231-6.
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: Gillian C Smith; Maria Kinali; Sanjay K Prasad; Gisèle Bonne; Francesco Muntoni; Dudley J Pennell; Petros Nihoyannopoulos
Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2006;8(5):723-30.
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: Eugenio Mercuri; Anne Lampe; Joanna M Allsop; Ravi Knight; Marika Pane; Maria Kinali; Carsten Bonnemann; 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: 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: 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: 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: 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: Eugenio Mercuri; Anne Lampe; Volker Straub; Yeliz Yuva; Cheryl Longman; M Wright; Sue Brown; Caroline Sewry; Carsten Bonnemann; 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: 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: Eugenio Mercuri; Enrico Bertini; Sonia Messina; Marco Pelliccioni; Adele D'Amico; Francesca Colitto; Massimiliano Mirabella; Francesco D Tiziano; Tiziana Vitali; Carla Angelozzi; Maria Kinali; Marion Main; Christina Brahe
Pilot trial of phenylbutyrate in spinal muscular atrophy.
Neuromuscular disorders : NMD 2004;14(2):130-5.
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: 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: 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.
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: 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: 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: 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: 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: 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.