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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7336765/
https://ncbi.nlm.nih.gov/pubmed/32383541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1240
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars