Literature DB >> 30340048

SnapShot: Biology of Genetic Ataxias.

Ilse Eidhof1, Bart P van de Warrenburg2, Annette Schenck1.   

Abstract

Genetic ataxias are a clinically important group of disabling, mostly neurodegenerative, diseases of the cerebellum. This SnapShot shows that the vast majority of established monogenic causes of dominant and recessive ataxias can be captured by a limited number of affected cellular components and biological processes in the cerebellum. To view this SnapShot, open or download the PDF.
Copyright © 2018 Elsevier Inc. All rights reserved.

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Year:  2018        PMID： 30340048     DOI： 10.1016/j.cell.2018.10.017

Source DB:  PubMed          Journal:  Cell        ISSN： 0092-8674            Impact factor:   41.582


  1 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
  1 in total

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