- Brain MRI abnormalities in muscular dystrophy due to FKRP mutationsSusana Quijano-Roy
Unité de Neurologie Pediatrique, Service de Pediatrie, Rééducation et Réanimation Neurorespiratoire, Hopital Raymond Poincare, 92380, Garches, France
Brain Dev 28:232-42. 2006..Intelligence and brain imaging have been previously reported as being normal in FKRP-associated muscular dystrophy, except in rare cases presenting with mental retardation associated with structural brain abnormalities...
- Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotypeEdoardo Malfatti
Unité de Morphologie Neuromusculaire, Institut de Myologie, groupe hospitalier universitaire La Pitié Salpêtrière, Paris, France
Acta Neuropathol Commun 2:44. 2014..Based on our observations, we propose myofibrillar dissociation and changes in contractility as an important cause of muscle weakness in NEB-mutated NM patients...
- Whole body muscle MRI protocol: pattern recognition in early onset NM disordersSusana Quijano-Roy
AP HP, Service de Pediatrie, Hopital Raymond Poincare, Garches, France
Neuromuscul Disord 22:S68-84. 2012..Recognition of characteristic patterns of abnormalities is improved by whole-body scanning compared with sequential MRI and, therefore, diagnostic impact is greater...
- ColVI myopathies: where do we stand, where do we go?Valérie Allamand
INSERM, U974, Paris, France
Skelet Muscle 1:30. 2011..In particular, mitochondrial dysfunction and a defect in the autophagic clearance system of skeletal muscle have recently been reported, thereby opening potential therapeutic avenues...
- De novo LMNA mutations cause a new form of congenital muscular dystrophySusana Quijano-Roy
Assistance Publique Hopitaux de Paris, Service de Pediatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches Necker Mondor Hendaye, Garches, France
Ann Neurol 64:177-86. 2008..To describe a new entity of congenital muscular dystrophies caused by de novo LMNA mutations...
- Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutationsMohamed Jarraya
AP HP, Hôpitaux Universitaires Paris Ile de France Ouest, Pôle neuro locomoteur, Hôpital R Poincaré Service d imagerie médicale, Groupe Rachis Garches, F 92380 Garches, France
Neuromuscul Disord 22:S137-47. 2012..More spread involvement may be observed. This cephalic-distal MRI pattern is not frequent in other known myopathies...
- Sleep-disordered breathing in children with congenital muscular dystrophiesJean Marc Pinard
Paediatric Neurology Unit, Paediatric Department, Raymond Poincare Hospital, Assistance Publique Hopitaux de Paris, University of Versailles St Quentin, France
Eur J Paediatr Neurol 16:619-24. 2012....
- Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiencySusana Quijano-Roy
Service de Pediatrie, Rééducation et Réanimation Neurorespiratoire, Hopital Raymond Poincare, Garches, France
Neuromuscul Disord 12:466-75. 2002..The known loci for congenital muscular dystrophies were excluded in the only consanguineous case by linkage analysis. Clinical, immunohistochemical and genetic findings strongly suggest a distinct entity...
- Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathyCyril Gitiaux
Service de Neurologie Pediatrique et Maladies Metaboliques, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Universite Paris Descartes, Paris, France
J Child Neurol 28:787-90. 2013..A review of the series of mutated patients in the French National Database gives new insights of the incidence of this disease in France...
- Muscle imaging in congenital myopathiesSusana Quijano-Roy
APHP, Service de Pediatrie, Hôpital Universitaire R Poincaré, Garches, France
Semin Pediatr Neurol 18:221-9. 2011..The aim of this review is to give a comprehensive up-to-date overview of the muscle imaging findings that have recently been described in different genetic congenital myopathies...
- SEPN1: associated with congenital fiber-type disproportion and insulin resistanceNigel F Clarke
Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Ann Neurol 59:546-52. 2006..Second, we investigated an association between SEPN1-related myopathy and insulin resistance...
- COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophyGuglielmina Pepe
Department of Medical and Surgical Critical Care and Center for the Study of Molecular and Clinical Level of Chronic, Degenerative, and Neoplastic Diseases to Develop Novel Therapies, University of Florence, Florence, Italy
Ann Neurol 59:190-5. 2006..Our studies identify a deletion-prone region in COL6A1 and suggest that similar mutations can lead to congenital muscle disorders of different clinical severity...
- EMG and nerve conduction studies in children with congenital muscular dystrophySusana Quijano-Roy
Unité de Neurophysiologie, Hopital d Enfants Armand Trousseau, 28 avenue Arnold Netter, 75571 Paris, France
Muscle Nerve 29:292-9. 2004..In conclusion, myopathic EMG changes were typical and early findings in all types of CMD. An associated neuropathy was detected in most patients with merosin-deficient CMD, and also in a child with normal merosin expression...
- New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian familiesNacim Louhichi
Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Avenue Majida Boulila, 3029 Sfax, Tunisia
Neurogenetics 5:27-34. 2004..They also relate MDC1C to other CMD with abnormal protein glycosylation and disordered brain function...
- Phenotypic spectrum associated with mutations in the fukutin-related protein geneEugenio Mercuri
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
Ann Neurol 53:537-42. 2003..MDC1C patients either carried 2 missense or 1 missense and 1 nonsense mutations. Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation...
- 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 myopathiesAna Ferreiro
INSERM U523, Institut de Myologie, Institut Fédératif de Recherche 14 Coeur, Muscle et Vaisseaux, Paris, France
Am J Hum Genet 71:739-49. 2002..The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between MmD and RSMD...
- Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathiesHiroshi Manya
Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Foundation for Research on Aging and Promotion of Human Welfare, Tokyo, Japan
Neuromuscul Disord 18:45-51. 2008..In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations...