SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia

Amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP) are motor neuron diseases sharing clinical, pathological, and genetic similarities. While biallelic SPG7 mutations are known to cause recessively inherited HSP, heterozygous SPG7 mutations have repeatedly been identified in...

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Detalhes bibliográficos
Publicado no:J Neurol
Main Authors: Osmanovic, Alma, Widjaja, Maylin, Förster, Alisa, Weder, Julia, Wattjes, Mike P., Lange, Inken, Sarikidi, Anastasia, Auber, Bernd, Raab, Peter, Christians, Anne, Preller, Matthias, Petri, Susanne, Weber, Ruthild G.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2020
Assuntos:
Original Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7419373/
https://ncbi.nlm.nih.gov/pubmed/32447552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-020-09861-w
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