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Frontiers in Neurology|March 6, 2026
CTNNB1-related disorders: clinical and radiological contributions from a French cohortEline Chauvet-Piat, Marie-Céline François-Heude, Gaël Manes, et al.Movement Disorders Clinical Practice|May 19, 2023
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase DeficiencyMarie-Céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, et al.Journal of the American Academy of Dermatology|October 16, 2016
The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literatureDidier Bessis, Michèle Bigorre, Nausicaa Malissen, et al.Genes|August 27, 2021
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 FamiliesRaul Juntas Morales, Aurélien Perrin, Guilhem Solé, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 2, 2026
Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French CohortClément Dunoyer, Gaëtan Poulen, Marie-Céline François-Heude, et al.JCI Insight|September 28, 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosaBéatrice Bocquet, Caroline Borday, Nejla Erkilic, et al.Journal of Neurology|September 24, 2021
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohortSusana Quijano-Roy, Jana Haberlova, Claudia Castiglioni, et al.European Journal of Human Genetics : EJHG|September 24, 2015
Mosaic parental germline mutations causing recurrent forms of malformations of cortical developmentJulia Lauer Zillhardt, Karine Poirier, Loïc Broix, et al.The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.Pageof 5