Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.

Ishiura, Hiroyuki; Tsuji, Shoji; Toda, Tatsushi

Ishiura, Hiroyuki; Tsuji, Shoji; Toda, Tatsushi.

Affiliation

Ishiura H; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. ishiura@s.okayama-u.ac.jp.
Tsuji S; Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan. ishiura@s.okayama-u.ac.jp.
Toda T; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

J Hum Genet ; 68(3): 169-174, 2023 Mar.

Article in En | MEDLINE | ID: mdl-36670296

Subject(s)

Fragile X Syndrome; Muscular Dystrophies; Humans; Tremor/genetics; Trinucleotide Repeat Expansion; Fragile X Syndrome/genetics; Ataxia/genetics; Muscular Dystrophies/genetics; Fragile X Mental Retardation Protein/genetics

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Fragile X Syndrome / Muscular Dystrophies Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: Japan

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