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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Bibliografiska uppgifter
I publikationen:J Neurol
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Springer Berlin Heidelberg 2020
Ämnen:
Original Communication
Länkar: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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