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BJOG : an International Journal of Obstetrics and Gynaecology
|
February 26, 2019
A case-comparison study of pregnant women with mitochondrial disease - what to expect?
C L Feeney, A Z Lim, E Fagan, et al.
Journal of Medical Genetics
|
January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
H A L Tuppen, F Fattori, R Carrozzo, et al.
Neurology
|
November 26, 2008
OPA1 in multiple mitochondrial DNA deletion disorders
J D Stewart, G Hudson, P Yu-Wai-Man, et al.
JAMA
|
February 12, 1997
Treatment of severe systemic inflammatory response syndrome and sepsis with a novel bradykinin antagonist, deltibant (CP-0127). Results of a randomized, double-blind, placebo-controlled trial. CP-0127 SIRS and Sepsis Study Group
A M Fein, G R Bernard, G J Criner, et al.
Neurogenetics
|
November 25, 2014
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism
Michael J Keogh, D Daud, A Pyle, et al.
Neurology
|
August 29, 2007
Homoplasmy, heteroplasmy, and mitochondrial dystonia
R McFarland, P F Chinnery, E L Blakely, et al.
Clinical Genetics
|
November 10, 2017
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism
E A Burke, S J Frucht, K Thompson, et al.
American Journal of Human Genetics
|
April 17, 1999
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy
K M Clark, R W Taylor, M A Johnson, et al.
Mitochondrion
|
November 21, 2012
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders
R J T Rodenburg, G C Schoonderwoerd, V Tiranti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 28, 2019
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease
V Boczonadi, M S King, A C Smith, et al.
Page
of 26
Search research articles
Search
Showing results (241-250 of 254) with videos related to
Sort By:
Page
of 26
BJOG : an International Journal of Obstetrics and Gynaecology
|
February 26, 2019
A case-comparison study of pregnant women with mitochondrial disease - what to expect?
C L Feeney, A Z Lim, E Fagan, et al.
Journal of Medical Genetics
|
January 8, 2008
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations
H A L Tuppen, F Fattori, R Carrozzo, et al.
Neurology
|
November 26, 2008
OPA1 in multiple mitochondrial DNA deletion disorders
J D Stewart, G Hudson, P Yu-Wai-Man, et al.
JAMA
|
February 12, 1997
Treatment of severe systemic inflammatory response syndrome and sepsis with a novel bradykinin antagonist, deltibant (CP-0127). Results of a randomized, double-blind, placebo-controlled trial. CP-0127 SIRS and Sepsis Study Group
A M Fein, G R Bernard, G J Criner, et al.
Neurogenetics
|
November 25, 2014
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism
Michael J Keogh, D Daud, A Pyle, et al.
Neurology
|
August 29, 2007
Homoplasmy, heteroplasmy, and mitochondrial dystonia
R McFarland, P F Chinnery, E L Blakely, et al.
Clinical Genetics
|
November 10, 2017
Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism
E A Burke, S J Frucht, K Thompson, et al.
American Journal of Human Genetics
|
April 17, 1999
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy
K M Clark, R W Taylor, M A Johnson, et al.
Mitochondrion
|
November 21, 2012
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders
R J T Rodenburg, G C Schoonderwoerd, V Tiranti, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 28, 2019
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease
V Boczonadi, M S King, A C Smith, et al.
Page
of 26