Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.
Consenso da Academia Brasileira de Neurologia para diagnóstico, aconselhamento genético e uso de terapias modificadoras na atrofia muscular espinhal 5q.
Journal
Arquivos de neuro-psiquiatria
ISSN: 1678-4227
Titre abrégé: Arq Neuropsiquiatr
Pays: Germany
ID NLM: 0125444
Informations de publication
Date de publication:
Jan 2024
Jan 2024
Historique:
medline:
6
2
2024
pubmed:
6
2
2024
entrez:
5
2
2024
Statut:
ppublish
Résumé
Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the Atrofia muscular espinhal ligada ao cromossomo 5 (AME-5q) é uma doença genética de herança autossômica recessiva causada por mutações no gene
Autres résumés
Type: Publisher
(por)
Atrofia muscular espinhal ligada ao cromossomo 5 (AME-5q) é uma doença genética de herança autossômica recessiva causada por mutações no gene
Identifiants
pubmed: 38316428
doi: 10.1055/s-0044-1779503
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1-18Informations de copyright
The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).
Déclaration de conflit d'intérêts
EZ, APQCA, JGG, MCF, JAMS: Consultant advisory, talks, and principal investigator for Biogen, Novartis, and Roche. MMB, CPDDF, MCMC, WM, CM, RHM, FN, ASBO, ALSP, PS, HV: Consultant advisory and or talks.