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

被引：2

作者：

Eidhof, Ilse ^{[1
]}

Baets, Jonathan ^{[2
,3
,4
]}

Kamsteeg, Erik-Jan ^{[1
]}

Schenck, Annette ^{[1
]}

van de Warrenburg, Bart P. ^{[5
]}

机构：

[1] Radboud Univ Nijmegen Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands

[2] Univ Antwerp, Ctr Mol Neurol, B-2610 Antwerp, Belgium

[3] Univ Antwerp, Inst Born Bunge, B-2610 Antwerp, Belgium

[4] Antwerp Univ Hosp, Dept Neurol, Neuromuscular Reference Ctr, B-6520 Antwerp, Belgium

[5] Radboud Univ Nijmegen Med Ctr, Dept Neurol, Donders Inst Brain Cognit & Behav, NL-6525 GC Nijmegen, Netherlands

来源：

BRAIN | 2020年 / 143卷

关键词：

NETWORK;

D O I：

10.1093/brain/awaa122

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：2

共 6 条

[1] Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family
Dong, Hai-Lin
Cheng, Hao-Ling
Bai, Ge
Shen, Ying
Wu, Zhi-Ying
BRAIN, 2020, 143
[2] Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family (vol 143, e51, 2020)
Eidhof, Ilse
Baets, Jonathan
Kamsteeg, Erik-Jan
Schenck, Annette
van de Warrenburg, Bart P.
BRAIN, 2020, 143
[3] A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
Breza, Marianthi
Bourinaris, Thomas
Efthymiou, Stephanie
Maroofian, Reza
Athanasiou-Fragkouli, Alkyoni
Tzartos, John
Velonakis, Georgios
Karavasilis, Efstratios
Angelopoulou, Georgia
Kasselimis, Dimitrios
Potagas, Constantin
Stefanis, Leonidas
Karadima, Georgia
Koutsis, Georgios
Houlden, Henry
BRAIN, 2020, 143
[4] A biallelic GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
Breza, M.
Bourinaris, T.
Efthymiou, S.
Maroofian, R.
Athanasiou-Fragkouli, A.
Tzartos, J.
Velonakis, G.
Karavasilis, E.
Angelopoulou, G.
Kasselimis, D.
Potagas, C.
Stefanis, L.
Karadima, G.
Koutsis, G.
Houlden, H.
EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 957 - 957
[5] Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Edoardo Errichiello
Guido Zagnoli-Vieira
Romana Rizzi
Livia Garavelli
Keith W. Caldecott
Orsetta Zuffardi
Journal of Human Genetics, 2020, 65 : 1135 - 1141
[6] Characterization of a novel loss-of-function variant inTDP2in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Errichiello, Edoardo
Zagnoli-Vieira, Guido
Rizzi, Romana
Garavelli, Livia
Caldecott, Keith W.
Zuffardi, Orsetta
JOURNAL OF HUMAN GENETICS, 2020, 65 (12) : 1135 - 1141

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