Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11

OBJECTIVE: Identification of causative mutations in 3 consanguineous families (with 4 affected members) referred to our center with young-onset motor neuron disease and overlapping phenotypes resembling autosomal recessive juvenile amyotrophic lateral sclerosis (ARJALS) and autosomal recessive hered...

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Publicado en:Neurol Genet
Main Authors: Iskender, Ceren, Kartal, Ece, Akcimen, Fulya, Kocoglu, Cemile, Ozoguz, Aslihan, Kotan, Dilcan, Eraksoy, Mefkure, Parman, Yesim G., Basak, Ayse Nazli
Formato: Artigo
Idioma:Inglês
Publicado: Wolters Kluwer 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4809458/
https://ncbi.nlm.nih.gov/pubmed/27066562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000025
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