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Patrick F Chinnery

Showing results (271-280 of 473) with videos related to

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Neurology|September 21, 2012
OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophyKamil S Sitarz, Gitte J Almind, Rita Horvath, et al.
Annals of Neurology|October 2, 2003
Genotypes from patients indicate no paternal mitochondrial DNA contributionRobert W Taylor, Martina T McDonnell, Emma L Blakely, et al.
Neuromuscular Disorders : NMD|April 20, 2012
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation loadKieren G Hollingsworth, Grainne S Gorman, Michael I Trenell, et al.
Cell|June 6, 2015
A Unique Gene Regulatory Network Resets the Human Germline Epigenome for DevelopmentWalfred W C Tang, Sabine Dietmann, Naoko Irie, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)Ana Töpf, Angela Pyle, Helen Griffin, et al.
Nucleic Acids Research|August 24, 2021
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseasesThiloka E Ratnaike, Daniel Greene, Wei Wei, et al.
Human Molecular Genetics|February 18, 2009
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromesStefanie Bulst, Angela Abicht, Elke Holinski-Feder, et al.
Neurology. Genetics|November 24, 2016
Phenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.
Neurology|February 15, 2015
SPG7 mutations are a common cause of undiagnosed ataxiaGerald Pfeffer, Angela Pyle, Helen Griffin, et al.
Diabetes|June 28, 2002
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genomeAlan T W Choo-Kang, Stephen Lynn, Geoffrey A Taylor, et al.
Pageof 48

Showing results (271-280 of 473) with videos related to

Sort By:
Pageof 48
Neurology|September 21, 2012
OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophyKamil S Sitarz, Gitte J Almind, Rita Horvath, et al.
Annals of Neurology|October 2, 2003
Genotypes from patients indicate no paternal mitochondrial DNA contributionRobert W Taylor, Martina T McDonnell, Emma L Blakely, et al.
Neuromuscular Disorders : NMD|April 20, 2012
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation loadKieren G Hollingsworth, Grainne S Gorman, Michael I Trenell, et al.
Cell|June 6, 2015
A Unique Gene Regulatory Network Resets the Human Germline Epigenome for DevelopmentWalfred W C Tang, Sabine Dietmann, Naoko Irie, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)Ana Töpf, Angela Pyle, Helen Griffin, et al.
Nucleic Acids Research|August 24, 2021
MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseasesThiloka E Ratnaike, Daniel Greene, Wei Wei, et al.
Human Molecular Genetics|February 18, 2009
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromesStefanie Bulst, Angela Abicht, Elke Holinski-Feder, et al.
Neurology. Genetics|November 24, 2016
Phenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.
Neurology|February 15, 2015
SPG7 mutations are a common cause of undiagnosed ataxiaGerald Pfeffer, Angela Pyle, Helen Griffin, et al.
Diabetes|June 28, 2002
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genomeAlan T W Choo-Kang, Stephen Lynn, Geoffrey A Taylor, et al.
Pageof 48