The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene-Reference-Cited by-同舟云学术

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The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene

Published:2015-03 Issue:3 Volume:21 Page:332-334
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Saigoh Kazumasa,Mitsui Jun,Hirano Makito,Shioyama Mitsuaki,Samukawa Makoto,Ichikawa Yaeko,Goto Jun,Tsuji Shoji,Kusunoki Susumu

Funder

Ministry of Health, Labor, and Welfare of Japan

Ministry of Education, Culture, Sports, Science, and Technology of Japan

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference5 articles.

1. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23;Bakalkin;Am J Hum Genet,2010

2. Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases;Jezierska;J Neurol,2013

3. The sequence alignment/map format and SAM tools;Li;Bioinformatics,2009

4. Progression and prognosis in multiple system atrophy: an analysis of 230 Japanese patients;Watanabe;Brain,2002

5. Putaminal magnetic resonance imaging features at various magnetic field strengths in multiple system atrophy;Watanabe;Mov Disord,2010

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1. Tremor in Spinocerebellar Ataxia: A Scoping Review;Tremor and Other Hyperkinetic Movements;2024

2. The “Hot Cross Bun Sign” in Spinocerebellar Ataxia Types 2 and 7–Case Reports and Review of Literature;Movement Disorders Clinical Practice;2022-10-13

3. Spinocerebellar ataxia type 23 (SCA23): a review;Journal of Neurology;2020-11-11

4. Intrafamilial phenotypic variation in spinocerebellar ataxia type 23;Cerebellum & Ataxias;2020-06-23

5. A case of a novel CACNA1G mutation from a Chinese family with SCA42;Medicine;2018-09

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