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

Author:

Eidhof Ilse1,Baets Jonathan234,Kamsteeg Erik-Jan1,Schenck Annette1,van de Warrenburg Bart P5

Affiliation:

1. Department of Human Genetics, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands

2. Center for Molecular Neurology, University of Antwerp, 2610 Antwerp, Belgium

3. Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium

4. Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 6520 Antwerp, Belgium

5. Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Centre, 6525 GC Nijmegen, The Netherlands

Funder

E-RARE-3 Joint Transnational Call

ZonMW

Association Belge contre les Maladies Neuromusculaires

Senior Clinical Researcher mandate of the Research Fund - Flanders

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Reference8 articles.

1. A homozygous GDAP2 loss-of-function variant in a patientwith adult-onset cerebellar ataxia. Brain;Breza,2020

2. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia;Eidhof;Brain,2018

3. SnapShot: biology of Genetic Ataxias;Eidhof;Cell,2018

4. Integrative network and brain expression analysis reveals mechanistic modules in ataxia;Eidhof;J Med Genet,2019

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