Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

OBJECTIVE: To identify the genetic cause of a syndrome causing cerebellar ataxia and eye movement abnormalities. METHODS: We identified 2 families with cerebellar ataxia, eye movement abnormalities, and global developmental delay. We performed genetic analyses including single nucleotide polymorphis...

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Detaylı Bibliyografya
Asıl Yazarlar: Hills, L. Benjamin, Masri, Amira, Konno, Kotaro, Kakegawa, Wataru, Lam, Anh-Thu N., Lim-Melia, Elizabeth, Chandy, Nandini, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Nasir, Ramzi, Stoler, Joan M., Barkovich, A. James, Watanabe, Masahiko, Yuzaki, Michisuke, Mochida, Ganeshwaran H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Lippincott Williams & Wilkins 2013
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3806907/
https://ncbi.nlm.nih.gov/pubmed/24078737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182a841a3
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