A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia-Reference-Cited by-同舟云学术

A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia

Published:2020-05-18 Issue:6 Volume:143 Page:e49-e49
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Breza Marianthi¹^ORCID,Bourinaris Thomas²,Efthymiou Stephanie²,Maroofian Reza²,Athanasiou-Fragkouli Alkyoni²,Tzartos John¹³,Velonakis Georgios⁴,Karavasilis Efstratios⁴^ORCID,Angelopoulou Georgia⁵,Kasselimis Dimitrios⁵⁶,Potagas Constantin⁵,Stefanis Leonidas¹,Karadima Georgia¹,Koutsis Georgios¹,Houlden Henry²^ORCID

Affiliation:

1. 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

2. Department of Neuromuscular Disorders, Institute of Neurology, University College London, London WC1N 3BG, UK

3. Tzartos Neurodiagnostics, Athens, Greece

4. 2nd Department of Radiology, Medical School, Attikon Hospital, National and Kapodistrian University of Athens, Athens, Greece

5. Neuropsychology and Speech Pathology Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

6. Division of Psychiatry and Behavioral Sciences, School of Medicine, University of Crete, Crete, Greece

Funder

Wellcome Trust

National Institute for Health Research University College London Hospitals Biomedical Research Centre

MRC

The National Institute for Health Research University College London Hospitals Biomedical Research Centre, Rosetree Trust

Brain Research UK

Muscular Dystrophy UK

Muscular Dystrophy Association

Publisher

Oxford University Press (OUP)

Subject