Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome-Reference-Cited by-同舟云学术

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Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome

Published:2017-06-22 Issue:17 Volume:26 Page:3352-3361
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Matilainen Sanna,Carroll Christopher J.,Richter Uwe,Euro Liliya,Pohjanpelto Max,Paetau Anders,Isohanni Pirjo,Suomalainen Anu

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/17/3352/19544112/ddx221.pdf

Reference22 articles.

1. Subacute necrotizing encephalomyelopathy in an infant;J. Neurol. Neurosurg. Psychiatry,1951

2. Leigh syndrome: neuropathology and pathogenesis;J. Neuropath. Exp. Neur,2015

3. A multicenter study on leigh syndrome: Disease course and predictors of survival;Orphanet. J. Rare Dis,2014

4. Leigh syndrome: One disorder, more than 75 monogenic causes;Ann. Neurol,2016

5. A mitochondrial protein compendium elucidates complex I disease biology;Cell,2008

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