Susana Quijano-Roy

Summary

Country: France

Publications

  1. ncbi request reprint Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
    Susana 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
  2. doi request reprint Whole body muscle MRI protocol: pattern recognition in early onset NM disorders
    Susana Quijano-Roy
    AP HP, Service de Pediatrie, Hopital Raymond Poincare, Garches, France
    Neuromuscul Disord 22:S68-84. 2012
  3. pmc ColVI myopathies: where do we stand, where do we go?
    Valérie Allamand
    INSERM, U974, Paris, France
    Skelet Muscle 1:30. 2011
  4. doi request reprint De novo LMNA mutations cause a new form of congenital muscular dystrophy
    Susana 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
  5. doi request reprint Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations
    Mohamed 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
  6. doi request reprint Sleep-disordered breathing in children with congenital muscular dystrophies
    Jean 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
  7. ncbi request reprint Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency
    Susana Quijano-Roy
    Service de Pediatrie, Rééducation et Réanimation Neurorespiratoire, Hopital Raymond Poincare, Garches, France
    Neuromuscul Disord 12:466-75. 2002
  8. doi request reprint Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy
    Cyril 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
  9. doi request reprint Muscle imaging in congenital myopathies
    Susana Quijano-Roy
    APHP, Service de Pediatrie, Hôpital Universitaire R Poincaré, Garches, France
    Semin Pediatr Neurol 18:221-9. 2011
  10. ncbi request reprint SEPN1: associated with congenital fiber-type disproportion and insulin resistance
    Nigel 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

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
    Susana 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...
  2. doi request reprint Whole body muscle MRI protocol: pattern recognition in early onset NM disorders
    Susana 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...
  3. pmc 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...
  4. doi request reprint De novo LMNA mutations cause a new form of congenital muscular dystrophy
    Susana 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...
  5. doi request reprint Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations
    Mohamed 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...
  6. doi request reprint Sleep-disordered breathing in children with congenital muscular dystrophies
    Jean 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
    ....
  7. ncbi request reprint Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency
    Susana 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...
  8. doi request reprint Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy
    Cyril 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...
  9. doi request reprint Muscle imaging in congenital myopathies
    Susana 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...
  10. ncbi request reprint SEPN1: associated with congenital fiber-type disproportion and insulin resistance
    Nigel 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...
  11. ncbi request reprint COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy
    Guglielmina 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...
  12. ncbi request reprint EMG and nerve conduction studies in children with congenital muscular dystrophy
    Susana 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...
  13. pmc New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
    Nacim 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...
  14. ncbi request reprint Phenotypic spectrum associated with mutations in the fukutin-related protein gene
    Eugenio 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...
  15. pmc 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
    Ana 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...
  16. ncbi request reprint Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies
    Hiroshi 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...