SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy-Reference-Cited by-同舟云学术

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SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

Published:2016-07-19 Issue:8 Volume:31 Page:1249-1251
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord.

Author:

Charlesworth Gavin¹,Balint Bettina²³,Mencacci Niccolò E.¹,Carr Lucinda⁴,Wood Nicholas W.¹,Bhatia Kailash P.²

Affiliation:

1. Department of Molecular NeuroscienceUCL Institute of NeurologyQueen Square London United Kingdom

2. Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of NeurologyLondon United Kingdom

3. Department of NeurologyUniversity Hospital HeidelbergHeidelberg Germany

4. Neuroscience DepartmentGOSHLondon United Kingdom

Funder

Medical Research Council/Wellcome Trust Strategic Award

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.26716

Reference5 articles.

1. DYSSYNERGIA CEREBELLARIS MYOCLONICA—PRIMARY ATROPHY OF THE DENTATE SYSTEM: A CONTRIBUTION TO THE PATHOLOGY AND SYMPTOMATOLOGY OF THE CEREBELLUM

2. Viewpoints on the Ramsay Hunt syndrome. The Ramsay Hunt syndrome is a useful clinical entity

3. The role of the cerebellum in the pathogenesis of cortical myoclonus

4. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

5. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system

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