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European Journal of Human Genetics : EJHG
|
December 13, 2022
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
Eleni Mavraki, Robyn Labrum, Kate Sergeant, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2012
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
Helen A L Tuppen, Karin Naess, Nancy G Kennaway, et al.
Archives of Neurology
|
April 12, 2012
Loss of myelin-associated glycoprotein in kearns-sayre syndrome
Nichola Z Lax, Graham R Campbell, Amy K Reeve, et al.
Retinal Cases & Brief Reports
|
March 16, 2017
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME
Igor Kozak, Darren T Oystreck, Khaled K Abu-Amero, et al.
Annals of Neurology
|
February 6, 2015
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
Gráinne S Gorman, Andrew M Schaefer, Yi Ng, et al.
Annals of Neurology
|
October 30, 2021
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
Albert Z Lim, Yi Shiau Ng, Alasdair Blain, et al.
Brain : a Journal of Neurology
|
December 11, 2007
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
Gavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, et al.
Genome Biology
|
September 18, 2020
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
Scott A Lujan, Matthew J Longley, Margaret H Humble, et al.
Neuromuscular Disorders : NMD
|
September 7, 2019
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy
Debby M E I Hellebrekers, Emma L Blakely, Alexandra T M Hendrickx, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2011
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
Helen Swalwell, Denise M Kirby, Emma L Blakely, et al.
Page
of 10
Search research articles
Search
Showing results (61-70 of 95) with videos related to
Sort By:
Page
of 10
European Journal of Human Genetics : EJHG
|
December 13, 2022
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
Eleni Mavraki, Robyn Labrum, Kate Sergeant, et al.
European Journal of Human Genetics : EJHG
|
March 2, 2012
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy
Helen A L Tuppen, Karin Naess, Nancy G Kennaway, et al.
Archives of Neurology
|
April 12, 2012
Loss of myelin-associated glycoprotein in kearns-sayre syndrome
Nichola Z Lax, Graham R Campbell, Amy K Reeve, et al.
Retinal Cases & Brief Reports
|
March 16, 2017
NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME
Igor Kozak, Darren T Oystreck, Khaled K Abu-Amero, et al.
Annals of Neurology
|
February 6, 2015
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
Gráinne S Gorman, Andrew M Schaefer, Yi Ng, et al.
Annals of Neurology
|
October 30, 2021
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression
Albert Z Lim, Yi Shiau Ng, Alasdair Blain, et al.
Brain : a Journal of Neurology
|
December 11, 2007
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance
Gavin Hudson, Patrizia Amati-Bonneau, Emma L Blakely, et al.
Genome Biology
|
September 18, 2020
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
Scott A Lujan, Matthew J Longley, Margaret H Humble, et al.
Neuromuscular Disorders : NMD
|
September 7, 2019
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy
Debby M E I Hellebrekers, Emma L Blakely, Alexandra T M Hendrickx, et al.
European Journal of Human Genetics : EJHG
|
March 3, 2011
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
Helen Swalwell, Denise M Kirby, Emma L Blakely, et al.
Page
of 10