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Patrick F Chinnery

Showing results (161-170 of 473) with videos related to

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American Journal of Human Genetics|August 5, 2008
Pathogenic mitochondrial DNA mutations are common in the general populationHannah R Elliott, David C Samuels, James A Eden, et al.
Neuromuscular Disorders : NMD|October 26, 2002
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathyJoanna L Elson, David C Samuels, Margaret A Johnson, et al.
Journal of Neurology|February 19, 2009
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6Patrick Yu-Wai-Man, Grainne Gorman, David E Bateman, et al.
Annals of Clinical and Translational Neurology|September 23, 2016
A multiple sclerosis-like disorder in patients with OPA1 mutationsPatrick Yu-Wai-Man, Achillefs Spyropoulos, Holly J Duncan, et al.
Lancet (London, England)|January 31, 2004
Genetics in reversePatrick F Chinnery, Niall E F Cartlidge, Stephen Tennant, et al.
Brain : a Journal of Neurology|April 18, 2007
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in EuropeKate Craig, Gianfrancesco Ferrari, Watcharee Tiangyou, et al.
Mitochondrion|August 12, 2018
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of cautionMauro Santibanez-Koref, Helen Griffin, Douglass M Turnbull, et al.
Brain : a Journal of Neurology|September 22, 2009
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic populationFiona L M Norwood, Chris Harling, Patrick F Chinnery, et al.
Brain : a Journal of Neurology|June 12, 2015
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyBoglarka Bansagi, Helen Griffin, Venkateswaran Ramesh, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|June 20, 2008
Leber hereditary optic neuropathy presenting in a 75-year-old manPatrick Yu-Wai-Man, David E Bateman, Gavin Hudson, et al.
Pageof 48

Showing results (161-170 of 473) with videos related to

Sort By:
Pageof 48
American Journal of Human Genetics|August 5, 2008
Pathogenic mitochondrial DNA mutations are common in the general populationHannah R Elliott, David C Samuels, James A Eden, et al.
Neuromuscular Disorders : NMD|October 26, 2002
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathyJoanna L Elson, David C Samuels, Margaret A Johnson, et al.
Journal of Neurology|February 19, 2009
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6Patrick Yu-Wai-Man, Grainne Gorman, David E Bateman, et al.
Annals of Clinical and Translational Neurology|September 23, 2016
A multiple sclerosis-like disorder in patients with OPA1 mutationsPatrick Yu-Wai-Man, Achillefs Spyropoulos, Holly J Duncan, et al.
Lancet (London, England)|January 31, 2004
Genetics in reversePatrick F Chinnery, Niall E F Cartlidge, Stephen Tennant, et al.
Brain : a Journal of Neurology|April 18, 2007
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in EuropeKate Craig, Gianfrancesco Ferrari, Watcharee Tiangyou, et al.
Mitochondrion|August 12, 2018
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of cautionMauro Santibanez-Koref, Helen Griffin, Douglass M Turnbull, et al.
Brain : a Journal of Neurology|September 22, 2009
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic populationFiona L M Norwood, Chris Harling, Patrick F Chinnery, et al.
Brain : a Journal of Neurology|June 12, 2015
The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophyBoglarka Bansagi, Helen Griffin, Venkateswaran Ramesh, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|June 20, 2008
Leber hereditary optic neuropathy presenting in a 75-year-old manPatrick Yu-Wai-Man, David E Bateman, Gavin Hudson, et al.
Pageof 48