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Patrick F Chinnery

Showing results (401-410 of 473) with videos related to

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Acta Neuropathologica Communications|February 4, 2017
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brainsWei Wei, Michael J Keogh, Ian Wilson, et al.
Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.
Neurology|December 24, 2013
Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD studyAlison J Yarnall, David P Breen, Gordon W Duncan, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 15, 2013
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureGerald Pfeffer, Rita Barresi, Ian J Wilson, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|August 17, 2018
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's diseaseGaël Nicolas, Rocío Acuña-Hidalgo, Michael J Keogh, et al.
Stem Cells (Dayton, Ohio)|June 3, 2009
A methodological approach to tracing cell lineage in human epithelial tissuesTariq G Fellous, Stuart A C McDonald, Julia Burkert, et al.
Pageof 48

Showing results (401-410 of 473) with videos related to

Sort By:
Pageof 48
Acta Neuropathologica Communications|February 4, 2017
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brainsWei Wei, Michael J Keogh, Ian Wilson, et al.
Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.
The Lancet. Neurology|February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation studyKristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.
Neurology|December 24, 2013
Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD studyAlison J Yarnall, David P Breen, Gordon W Duncan, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 15, 2013
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureGerald Pfeffer, Rita Barresi, Ian J Wilson, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
American Journal of Ophthalmology|April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionAnna Majander, Neringa Jurkute, Florence Burté, et al.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|August 17, 2018
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's diseaseGaël Nicolas, Rocío Acuña-Hidalgo, Michael J Keogh, et al.
Stem Cells (Dayton, Ohio)|June 3, 2009
A methodological approach to tracing cell lineage in human epithelial tissuesTariq G Fellous, Stuart A C McDonald, Julia Burkert, et al.
Pageof 48