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Patrick F. Chinnery

Showing results (91-100 of 370) with videos related to

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Neuromuscular Disorders : NMD|January 22, 2004
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysisRobert McFarland, Robert W Taylor, Patrick F Chinnery, et al.
Journal of the Neurological Sciences|October 15, 2005
Minimum prevalence of spinocerebellar ataxia 17 in the north east of EnglandKate Craig, Sharon M Keers, Timothy J Walls, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2013
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6Lynn Rochester, Brook Galna, Sue Lord, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 9, 2002
Late-onset axial jerky dystonia due to the DYT1 deletionPatrick F Chinnery, Paul J Reading, Emma L McCarthy, et al.
Acta Neuropathologica|April 30, 2022
Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degenerationYu Nie, Alexander Murley, Zoe Golder, et al.
International Journal of Epidemiology|January 31, 2012
Epigenetics, epidemiology and mitochondrial DNA diseasesPatrick F Chinnery, Hannah R Elliott, Gavin Hudson, et al.
Molecular Vision|January 18, 2008
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathyGavin Hudson, Valerio Carelli, Rita Horvath, et al.
Plos One|May 14, 2013
Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic NeuropathyAnais Thouin, Philip G Griffiths, Gavin Hudson, et al.
Neuromuscular Disorders : NMD|March 29, 2005
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegiaMarcus Deschauer, Gavin Hudson, Tobias Müller, et al.
Trends in Genetics : TIG|July 18, 2020
Mitochondrial Diseases: A Diagnostic RevolutionKatherine R Schon, Thiloka Ratnaike, Jelle van den Ameele, et al.
Pageof 37

Showing results (91-100 of 370) with videos related to

Sort By:
Pageof 37
Neuromuscular Disorders : NMD|January 22, 2004
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysisRobert McFarland, Robert W Taylor, Patrick F Chinnery, et al.
Journal of the Neurological Sciences|October 15, 2005
Minimum prevalence of spinocerebellar ataxia 17 in the north east of EnglandKate Craig, Sharon M Keers, Timothy J Walls, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2013
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6Lynn Rochester, Brook Galna, Sue Lord, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 9, 2002
Late-onset axial jerky dystonia due to the DYT1 deletionPatrick F Chinnery, Paul J Reading, Emma L McCarthy, et al.
Acta Neuropathologica|April 30, 2022
Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degenerationYu Nie, Alexander Murley, Zoe Golder, et al.
International Journal of Epidemiology|January 31, 2012
Epigenetics, epidemiology and mitochondrial DNA diseasesPatrick F Chinnery, Hannah R Elliott, Gavin Hudson, et al.
Molecular Vision|January 18, 2008
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathyGavin Hudson, Valerio Carelli, Rita Horvath, et al.
Plos One|May 14, 2013
Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic NeuropathyAnais Thouin, Philip G Griffiths, Gavin Hudson, et al.
Neuromuscular Disorders : NMD|March 29, 2005
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegiaMarcus Deschauer, Gavin Hudson, Tobias Müller, et al.
Trends in Genetics : TIG|July 18, 2020
Mitochondrial Diseases: A Diagnostic RevolutionKatherine R Schon, Thiloka Ratnaike, Jelle van den Ameele, et al.
Pageof 37