Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

BACKGROUND: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not b...

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Detalles Bibliográficos
Autores principales: Khani, Marzieh, Shamshiri, Hosein, Fatehi, Farzad, Rohani, Mohammad, Haghi Ashtiani, Bahram, Akhoundi, Fahimeh Haji, Alavi, Afagh, Moazzeni, Hamidreza, Taheri, Hanieh, Ghani, Mina Tolou, Javanparast, Leila, Hashemi, Seyyed Saleh, Haji‐Seyed‐Javadi, Ramona, Heidari, Matineh, Nafissi, Shahriar, Elahi, Elahe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336765/
https://www.ncbi.nlm.nih.gov/pubmed/32383541
http://dx.doi.org/10.1002/mgg3.1240

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