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Annals of Neurology|August 23, 2024
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related EpilepsyVincent Moya Quiros, Ahmed Adham, Philippe Convers, et al.
European Journal of Neurology|May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational studyMarine Tardieu, Céline Cudejko, Aline Cano, et al.
Heart Rhythm|November 16, 2025
Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variantsAntoine Delinière, Chloé Mulatier, David Cheillan, et al.
American Journal of Human Genetics|November 24, 2015
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesClaire Angebault, Pierre-Olivier Guichet, Yasmina Talmat-Amar, et al.
Bone Marrow Transplantation|December 9, 2022
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patientsAntoine Gardin, Martin Castelle, Samia Pichard, et al.
Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.
Brain : a Journal of Neurology|June 5, 2025
The genetic and phenotypic spectrum of GABRB1-related disordersCharissa Millevert, Anthony Sze Hon Kan, Moritz Hanke, et al.
Life (Basel, Switzerland)|November 11, 2022
Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyBerna Seker Yilmaz, Julien Baruteau, Nur Arslan, et al.
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