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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419373/
https://www.ncbi.nlm.nih.gov/pubmed/32447552
http://dx.doi.org/10.1007/s00415-020-09861-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419373/
https://www.ncbi.nlm.nih.gov/pubmed/32447552
http://dx.doi.org/10.1007/s00415-020-09861-w

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