Laboratoire Physiopathologie et Génétique du Neurone et du Muscle

Recent papers from Laboratoire Physiopathologie et Génétique du Neurone et du Muscle

1. Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy2026
2. SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years AgoMovement Disorders · 2026
3. A tailored fit: How intermediate filaments orchestrate glioblastoma invasionMechanobiology in Medicine · 2026
4. Stress-Induced Nuclear Import Governs Transcription Recovery after DNA Damage2025
5. GABRA2 ‐related encephalopathy: Identification of two phenotypes with distinctive electroclinical featuresEpilepsia · 2025
6. Clinical and Neurodevelopmental Characteristics of Paralogous Gain‐of‐Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803Clinical Genetics · 2025
7. Correlation-based nanometric localization using lattice SIM2 and dSTORM in PML nuclear bodies validated by calibration spheresBiochemical and Biophysical Research Communications · 2025
8. Delivery of Prime editing in human stem cells using pseudoviral NanoScribes particlesNature Communications · 2025
9. Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia DiagnosisClinical Genetics · 2024
10. Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR , a long noncoding RNA2024
11. Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disordersMolecular Genetics & Genomic Medicine · 2024
12. Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder2023
13. Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencingEuropean Journal of Human Genetics · 2023
14. KCNT2 ‐Related Disorders: Phenotypes, Functional, and Pharmacological PropertiesAnnals of Neurology · 2023
15. Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosisBritish Journal of Haematology · 2023
16. H syndrome mimicking Erdheim Chester disease: new entity and therapeutic perspectivesHaematologica · 2023
17. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathyBrain · 2022
18. SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family membersLife Science Alliance · 2022
19. Nucleolar Reorganization After Cellular Stress is Orchestrated by SMN Shuttling between Nuclear Compartments2022
20. Revisiting idiopathic eosinophilic myositis: towards a clinical-pathological continuum from the muscle to the fascia and skinLara D. Veeken · 2022