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JIMD Reports
|
April 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
Liana N Semcesen, Megan Ball, Daniella H Hock, et al.
Cell Reports
|
November 9, 2017
Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes
Claudia Loetsch, Joanna Warren, Adrienne Laskowski, et al.
American Journal of Medical Genetics. Part A
|
March 10, 2023
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
Sharmila Kiss, John Christodoulou, David R Thorburn, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2015
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review
Dylan A Mordaunt, Alexandra Jolley, Shanti Balasubramaniam, et al.
Journal of Lipid Research
|
April 5, 2005
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, et al.
Human Reproduction (Oxford, England)
|
April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma
Alistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.
Frontiers in Genetics
|
February 24, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
Liliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, et al.
The Journal of Cell Biology
|
January 25, 2024
CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex
Megan J Baker, Kai Uwe Blau, Alexander J Anderson, et al.
The Lancet. Neurology
|
June 19, 2021
Mitochondrial disease in adults: recent advances and future promise
Yi Shiau Ng, Laurence A Bindoff, Gráinne S Gorman, et al.
Molecular and Cellular Biology
|
June 3, 2024
Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease
Jordan J Crameri, Catherine S Palmer, Tegan Stait, et al.
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of 18
Search research articles
Search
Showing results (71-80 of 173) with videos related to
Sort By:
Page
of 18
JIMD Reports
|
April 27, 2026
Antenatal Presentation of MRPS22-Related Mitochondrial Disease Confirmed With Rapid Proteomics
Liana N Semcesen, Megan Ball, Daniella H Hock, et al.
Cell Reports
|
November 9, 2017
Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes
Claudia Loetsch, Joanna Warren, Adrienne Laskowski, et al.
American Journal of Medical Genetics. Part A
|
March 10, 2023
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
Sharmila Kiss, John Christodoulou, David R Thorburn, et al.
American Journal of Medical Genetics. Part A
|
April 23, 2015
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review
Dylan A Mordaunt, Alexandra Jolley, Shanti Balasubramaniam, et al.
Journal of Lipid Research
|
April 5, 2005
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, et al.
Human Reproduction (Oxford, England)
|
April 6, 2006
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma
Alistair T Pagnamenta, Jan-Willem Taanman, Callum J Wilson, et al.
Frontiers in Genetics
|
February 24, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation
Liliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, et al.
The Journal of Cell Biology
|
January 25, 2024
CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex
Megan J Baker, Kai Uwe Blau, Alexander J Anderson, et al.
The Lancet. Neurology
|
June 19, 2021
Mitochondrial disease in adults: recent advances and future promise
Yi Shiau Ng, Laurence A Bindoff, Gráinne S Gorman, et al.
Molecular and Cellular Biology
|
June 3, 2024
Reduced Protein Import via TIM23 SORT Drives Disease Pathology in TIMM50-Associated Mitochondrial Disease
Jordan J Crameri, Catherine S Palmer, Tegan Stait, et al.
Page
of 18