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Comment

. 2020 Jun 1;143(6):e50.

doi: 10.1093/brain/awaa121.

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

Affiliations

Affiliations

¹ Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
² Institute of Neuroscience, Zhejiang University School of Medicine, Hangzhou, China.

PMID: 32437512
DOI: 10.1093/brain/awaa121

Comment

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

Hai-Lin Dong et al. Brain. 2020.

. 2020 Jun 1;143(6):e50.

doi: 10.1093/brain/awaa121.

Authors

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

Affiliations

¹ Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
² Institute of Neuroscience, Zhejiang University School of Medicine, Hangzhou, China.

PMID: 32437512
DOI: 10.1093/brain/awaa121

No abstract available

PubMed Disclaimer

Comment in

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.
Eidhof I, Baets J, Kamsteeg EJ, Schenck A, van de Warrenburg BP. Eidhof I, et al. Brain. 2020 Jun 1;143(6):e51. doi: 10.1093/brain/awaa122. Brain. 2020. PMID: 32428197 Free PMC article. No abstract available.

Comment on

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.
Eidhof I, Baets J, Kamsteeg EJ, Deconinck T, van Ninhuijs L, Martin JJ, Schüle R, Züchner S, De Jonghe P, Schenck A, van de Warrenburg BP. Eidhof I, et al. Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198. Brain. 2018. PMID: 30084953 Free PMC article.

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