Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings with a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia,...

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Vydáno v:Sci Rep
Hlavní autoři: Doi, Hiroshi, Ushiyama, Masao, Baba, Takashi, Tani, Katsuko, Shiina, Masaaki, Ogata, Kazuhiro, Miyatake, Satoko, Fukuda-Yuzawa, Yoko, Tsuji, Shoji, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Ikeda, Shu-ichi, Tanaka, Fumiaki, Matsumoto, Naomichi, Yoshida, Kunihiro
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5384088/
https://ncbi.nlm.nih.gov/pubmed/25417924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep07132
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