Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance-Reference-Cited by-同舟云学术

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Published:2014-04-10 Issue:5 Volume:137 Page:1323-1336
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Pfeffer Gerald,Gorman Gráinne S,Griffin Helen,Kurzawa-Akanbi Marzena,Blakely Emma L.,Wilson Ian,Sitarz Kamil,Moore David,Murphy Julie L.,Alston Charlotte L.,Pyle Angela,Coxhead Jon,Payne Brendan,Gorrie George H.,Longman Cheryl,Hadjivassiliou Marios,McConville John,Dick David,Imam Ibrahim,Hilton David,Norwood Fiona,Baker Mark R.,Jaiser Stephan R.,Yu-Wai-Man Patrick,Farrell Michael,McCarthy Allan,Lynch Timothy,McFarland Robert,Schaefer Andrew M.,Turnbull Douglass M.,Horvath Rita,Taylor Robert W.,Chinnery Patrick F.

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/137/5/1323/11141184/awu060.pdf

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3. Subclinical multisystem neurologic disease in “pure” OPA1 autosomal dominant optic atrophy;Baker;Neurology,2011

4. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle;Blakely;Neuromuscul Disord,2012

5. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy;Blakely;Neuromuscul Disord,2008

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