Načítá se...

A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2

BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan. METHODS: Detailed clinical investigations were carri...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:J Clin Neurol
Hlavní autoři: Tariq, Huma, Imran, Rashid, Naz, Sadaf
Médium: Artigo
Jazyk:Inglês
Vydáno: Korean Neurological Association 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6172491/
https://ncbi.nlm.nih.gov/pubmed/30198223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2018.14.4.498
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!