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Neuromuscular Disorders : NMD|May 29, 2002
Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiencySusana Quijano-Roy, Lucía Galan, Ana Ferreiro, et al.
Bulletin De L'Academie Nationale De Medecine|January 26, 2006
[Spinal muscular atrophy. A 4-year prospective, multicenter, longitudinal study (168 cases)]Annie Barois, Michèle Mayer, Isabelle Desguerre, et al.
Neurogenetics|December 4, 2003
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, Chahnez Triki, Susana Quijano-Roy, et al.
Annals of Neurology|December 21, 2005
SEPN1: associated with congenital fiber-type disproportion and insulin resistanceNigel F Clarke, Warren Kidson, Susana Quijano-Roy, et al.
Neuromuscular Disorders : NMD|June 14, 2017
Diaphragmatic dysfunction in SEPN1-related myopathySerena Caggiano, Sonia Khirani, Ivana Dabaj, et al.
Brain & Development|December 22, 2005
Brain MRI abnormalities in muscular dystrophy due to FKRP mutationsSusana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, et al.
Muscle & Nerve|December 17, 2015
Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathyDavid Gómez-Andrés, Ivana Dabaj, Dominique Mompoint, et al.
Neuromuscular Disorders : NMD|September 18, 2012
Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutationsMohamed Jarraya, Susana Quijano-Roy, Nicole Monnier, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutationRabah Ben Yaou, Claire Navarro, Susana Quijano-Roy, et al.
Muscle & Nerve|March 27, 2015
Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable patternKarolina Hankiewicz, Robert Y Carlier, Leila Lazaro, et al.
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