Literature DB >> 32437512

Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.

Hai-Lin Dong1, Hao-Ling Cheng1, Ge Bai2, Ying Shen2, Zhi-Ying Wu1.   

Abstract

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Year:  2020        PMID： 32437512     DOI： 10.1093/brain/awaa121

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  2 in total

1.  Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.

Authors:  Ilse Eidhof; Jonathan Baets; Erik-Jan Kamsteeg; Annette Schenck; Bart P van de Warrenburg
Journal:  Brain       Date:  2020-06-01       Impact factor: 13.501

2.  Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias.

Authors:  Hao-Ling Cheng; Ya-Ru Shao; Yi Dong; Hai-Lin Dong; Lu Yang; Yin Ma; Ying Shen; Zhi-Ying Wu
Journal:  Transl Neurodegener       Date:  2021-10-18       Impact factor: 8.014
  2 in total

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