| Title: |
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS ; J Neurol Neurosurg Psychiatry |
| Authors: |
GUISSART, Claire; DE LA CRUZ, Elisa; FLABEAU, Olivier; GRAPPERON, Aude-Marie; CORAZZA, Giovanni; JUNILHON, Lucie; DELMAS, Jean-Charles; MILLECAMPS, Stéphanie; POLGE, Anne; AMADOR, Maria Del Mar; SALACHAS, Francois; ROCHAT, Julie; GOIZET, Cyril; JUNTAS MORALES, Raul; LUMBROSO, Serge; PHILIBERT, Pascal; CHEILLAN, David; MOUZAT, Kevin |
| Publication Year: |
2024 |
| Subject Terms: |
Humans; Amyotrophic Lateral Sclerosis; Mutation; Serine C-Palmitoyltransferase; Sciences du Vivant [q-bio]/Génétique |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| ISSN: |
38041669 |
| DOI: |
10.1136/jnnp-2023-331753 |
| Availability: |
https://oskar-bordeaux.fr/handle/20.500.12278/204057; https://hdl.handle.net/20.500.12278/204057; https://doi.org/10.1136/jnnp-2023-331753 |
| Rights: |
open ; Pas de Licence CC |
| Accession Number: |
edsbas.E82F85B2 |
| Database: |
BASE |