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Journal of Medical Genetics|January 24, 2018
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiencyIsaure de Beaurepaire, David Grévent, Marlène Rio, et al.Frontiers in Neurology|May 16, 2020
Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?Melodie Aubart, Cyril Gitiaux, Charles Joris Roux, et al.Journal of Neurology|April 28, 2023
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysisEugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, et al.Journal of Pediatric Orthopedics|August 19, 2021
Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 PatientsMathilde Gaume, Etienne Saudeau, Marta Gomez-Garcia de la Banda, et al.Journal of Medical Genetics|October 30, 2014
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophyMetodi Dimitrov Metodiev, Sylvie Gerber, Laurence Hubert, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 23, 2024
Vitamin deficiencies in children: Lessons from clinical and neuroimaging findingsGabrielle Dupuy, Charles-Joris Roux, Rémi Barrois, et al.Human Molecular Genetics|September 11, 2010
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsKarine Poirier, Yoann Saillour, Nadia Bahi-Buisson, et al.Journal of Neuromuscular Diseases|February 11, 2020
RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study DesignRichard S Finkel, John W Day, Darryl C De Vivo, et al.Neurology. Genetics|January 26, 2022
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron RegulationSebastian Montealegre, Elise Lebigot, Hugo Debruge, et al.Frontiers in Genetics|February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from MaghrebLamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.Pageof 24