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European Journal of Medical Genetics|October 18, 2024
Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisalGiulia Barcia, Giovanna Scorrano, Marlène Rio, et al.
Journal of Child Neurology|August 19, 2021
Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 PatientsJudith Chareyre, Antoine Neuraz, Alina Badina, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 4, 2018
PLA2G6-associated neurodegeneration: Lessons from neurophysiological findingsCyril Gitiaux, Anna Kaminska, Nathalie Boddaert, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|December 3, 2014
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndromeCyril Gitiaux, Nathalie Blin-Rochemaure, Marie Hully, et al.
American Journal of Medical Genetics. Part A|April 21, 2019
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosisAnne Guimier, Christopher T Gordon, Marie Hully, et al.
Stem Cell Research|December 6, 2025
Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)Lisa Zerad, Blaise Didry-Barca, Céline Banal, et al.
Neurogenetics|October 12, 2016
Mosaicism in ATP1A3-related disorders: not just a theoretical riskMarie Hully, Juliette Ropars, Laurence Hubert, et al.
Brain : a Journal of Neurology|May 27, 2014
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?Nadia Bahi-Buisson, Karine Poirier, Franck Fourniol, et al.
Pediatric Neurology|October 13, 2022
Indications and Safety of Rituximab in Pediatric Neurology: A 10-Year Retrospective StudyAi Tien Nguyen, Camille Cotteret, Chloé Durrleman, et al.
Life (Basel, Switzerland)|February 25, 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCérane Cafournet, Sofia Zanin, Anne Guimier, et al.
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