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JAMA Neurology
|
October 16, 2013
Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy
Achilles Spyropoulos, Mark Manford, Rita Horvath, et al.
Neurology. Genetics
|
September 29, 2017
De novo <i>CTBP1</i> variant is associated with decreased mitochondrial respiratory chain activities
Ewen W Sommerville, Charlotte L Alston, Angela Pyle, et al.
BMC Research Notes
|
June 29, 2016
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report
Asheeta Gupta, Isabel Colmenero, Nicola K Ragge, et al.
Annals of Neurology
|
September 22, 2007
Prevalence of mitochondrial DNA disease in adults
Andrew M Schaefer, Robert McFarland, Emma L Blakely, et al.
Nucleic Acids Research
|
July 24, 2002
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
Langping He, Patrick F Chinnery, Steve E Durham, et al.
Biochimica Et Biophysica Acta
|
March 9, 2010
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy
Petter S Sanaker, Marina Toompuu, Vanessa E Hogan, et al.
Mitochondrion
|
April 26, 2019
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes
Albert Z Lim, Emma L Blakely, Karen Baty, et al.
Archives of Neurology
|
March 11, 2009
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features
Emma L Blakely, S Anand Trip, Helen Swalwell, et al.
Neurology. Genetics
|
August 16, 2018
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, et al.
Brain : a Journal of Neurology
|
November 6, 2008
Resistance training in patients with single, large-scale deletions of mitochondrial DNA
Julie L Murphy, Emma L Blakely, Andrew M Schaefer, et al.
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of 9
Search research articles
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Showing results (11-20 of 82) with videos related to
Sort By:
Page
of 9
JAMA Neurology
|
October 16, 2013
Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy
Achilles Spyropoulos, Mark Manford, Rita Horvath, et al.
Neurology. Genetics
|
September 29, 2017
De novo <i>CTBP1</i> variant is associated with decreased mitochondrial respiratory chain activities
Ewen W Sommerville, Charlotte L Alston, Angela Pyle, et al.
BMC Research Notes
|
June 29, 2016
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report
Asheeta Gupta, Isabel Colmenero, Nicola K Ragge, et al.
Annals of Neurology
|
September 22, 2007
Prevalence of mitochondrial DNA disease in adults
Andrew M Schaefer, Robert McFarland, Emma L Blakely, et al.
Nucleic Acids Research
|
July 24, 2002
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
Langping He, Patrick F Chinnery, Steve E Durham, et al.
Biochimica Et Biophysica Acta
|
March 9, 2010
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy
Petter S Sanaker, Marina Toompuu, Vanessa E Hogan, et al.
Mitochondrion
|
April 26, 2019
A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes
Albert Z Lim, Emma L Blakely, Karen Baty, et al.
Archives of Neurology
|
March 11, 2009
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features
Emma L Blakely, S Anand Trip, Helen Swalwell, et al.
Neurology. Genetics
|
August 16, 2018
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)
Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, et al.
Brain : a Journal of Neurology
|
November 6, 2008
Resistance training in patients with single, large-scale deletions of mitochondrial DNA
Julie L Murphy, Emma L Blakely, Andrew M Schaefer, et al.
Page
of 9