Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias

Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS—ataxia and pyramidal signs with hypogonadotropi...

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Detaylı Bibliyografya
Yayımlandı:Cerebellum
Asıl Yazarlar: Teive, Hélio Afonso Ghizoni, Camargo, Carlos Henrique F., Sato, Mario Teruo, Shiokawa, Naoye, Boguszewski, Cesar L., Raskin, Salmo, Buck, Cassandra, Seminara, Stephanie B., Munhoz, Renato Puppi
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5970027/
https://ncbi.nlm.nih.gov/pubmed/29248984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-017-0909-y
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