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European Journal of Human Genetics : EJHG|August 21, 2014
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesitySophie Thomas, Vincent Cantagrel, Laura Mariani, et al.
Orphanet Journal of Rare Diseases|May 6, 2016
Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred populationHisham Megahed, Michaël Nicouleau, Giulia Barcia, et al.
Molecular Genetics and Metabolism|July 16, 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findingsAnaïs Brassier, Samia Pichard, Manuel Schiff, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|February 27, 2021
SYNGAP1-DEE: A visual sensitive epilepsyTommaso Lo Barco, Anna Kaminska, Roberta Solazzi, et al.
International Journal of Molecular Sciences|December 10, 2021
Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy PatientsPierre Meyer, Cécile Notarnicola, Albano C Meli, et al.
Developmental Medicine and Child Neurology|January 14, 2026
Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screenerRuben Miranda, Pien M M Weerkamp, Anna Kolesnik, et al.
Journal of Neuromuscular Diseases|May 30, 2026
Screening cognitive and academic problems in Duchenne Muscular Dystrophy: Validity and reliability of the Kempenhaeghe Learning QuestionnairePien Mm Weerkamp, Ruben Miranda, Daniella Chieffo, et al.
Acta Neuropathologica Communications|October 20, 2023
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cellsNastasia Cardone, Valentina Taglietti, Serena Baratto, et al.
American Journal of Human Genetics|February 4, 2018
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron AccumulationAnthony Drecourt, Joël Babdor, Michael Dussiot, et al.
European Journal of Neurology|November 18, 2025
Efficacy and Safety of Plasmapheresis in Children With Acute Transverse or Flaccid Myelitis, and Guillain-Barré SyndromeAlix Fleurance, Laure Joseph, Laurène Dehoux, et al.
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