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Journal of Inherited Metabolic Disease
|
April 16, 2016
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome
Marta Kanabus, Elisa Fassone, Sean David Hughes, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
Emma Glamuzina, Ruth Brown, Kieran Hogarth, et al.
Rapid Communications in Mass Spectrometry : RCM
|
April 18, 2013
Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard
Kate E C Duberley, Iain P Hargreaves, Korn-Anong Chaiwatanasirikul, et al.
Journal of Inherited Metabolic Disease
|
September 3, 2017
The presence of anaemia negatively influences survival in patients with POLG disease
Omar Hikmat, Charalampos Tzoulis, Claus Klingenberg, et al.
Molecular Therapy. Methods & Clinical Development
|
February 3, 2025
Gene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiency
Nandaki Keshavan, Miriam Greenwood, Helen Prunty, et al.
Journal of Computational Chemistry
|
June 11, 2026
Structure-Based Design of Isoxazolidine RIPK1 Inhibitors for Neuroinflammation
Shamima Rahman Shila, Mansour H Almatarneh, Humaera Noor Suha, et al.
BMJ Open
|
January 7, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study
Shamima Rahman, Russell Ecob, Harry Costello, et al.
Epilepsia
|
December 5, 2008
Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features
Nicole I Wolf, Shamima Rahman, Bernhard Schmitt, et al.
Journal of Inherited Metabolic Disease
|
September 28, 2017
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
Omar Hikmat, Charalampos Tzoulis, Claus Klingenberg, et al.
Annals of Clinical and Translational Neurology
|
June 7, 2024
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Erle Kristensen, Linda Mathisen, Siren Berland, et al.
Page
of 19
Search research articles
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Showing results (81-90 of 182) with videos related to
Sort By:
Page
of 19
Journal of Inherited Metabolic Disease
|
April 16, 2016
The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome
Marta Kanabus, Elisa Fassone, Sean David Hughes, et al.
Journal of Inherited Metabolic Disease
|
November 17, 2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2
Emma Glamuzina, Ruth Brown, Kieran Hogarth, et al.
Rapid Communications in Mass Spectrometry : RCM
|
April 18, 2013
Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard
Kate E C Duberley, Iain P Hargreaves, Korn-Anong Chaiwatanasirikul, et al.
Journal of Inherited Metabolic Disease
|
September 3, 2017
The presence of anaemia negatively influences survival in patients with POLG disease
Omar Hikmat, Charalampos Tzoulis, Claus Klingenberg, et al.
Molecular Therapy. Methods & Clinical Development
|
February 3, 2025
Gene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiency
Nandaki Keshavan, Miriam Greenwood, Helen Prunty, et al.
Journal of Computational Chemistry
|
June 11, 2026
Structure-Based Design of Isoxazolidine RIPK1 Inhibitors for Neuroinflammation
Shamima Rahman Shila, Mansour H Almatarneh, Humaera Noor Suha, et al.
BMJ Open
|
January 7, 2012
Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study
Shamima Rahman, Russell Ecob, Harry Costello, et al.
Epilepsia
|
December 5, 2008
Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features
Nicole I Wolf, Shamima Rahman, Bernhard Schmitt, et al.
Journal of Inherited Metabolic Disease
|
September 28, 2017
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
Omar Hikmat, Charalampos Tzoulis, Claus Klingenberg, et al.
Annals of Clinical and Translational Neurology
|
June 7, 2024
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study
Erle Kristensen, Linda Mathisen, Siren Berland, et al.
Page
of 19