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Neurology. Genetics
|
May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era
Patrick Forny, Emma Footitt, James E Davison, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
Saskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Journal of Medical Genetics
|
July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
American Journal of Human Genetics
|
January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
Valeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Cell Reports
|
June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease
Robert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.
Journal of the American Society of Nephrology : JASN
|
August 19, 2005
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia
Karl P Schlingmann, Martin C Sassen, Stefanie Weber, et al.
Journal of Clinical Medicine
|
July 27, 2019
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial
Bridget E Bax, Michelle Levene, Murray D Bain, et al.
Journal of Inherited Metabolic Disease
|
November 7, 2020
Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome"
Laurence A Bindoff, David A Brown, Gráinne S Gorman, et al.
Brain : a Journal of Neurology
|
September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
Emma S Reid, Apostolos Papandreou, Suzanne Drury, et al.
Journal of Inherited Metabolic Disease
|
March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa, Shamima Rahman, Anne Lombès, et al.
Page
of 19
Search research articles
Search
Showing results (131-140 of 182) with videos related to
Sort By:
Page
of 19
Neurology. Genetics
|
May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era
Patrick Forny, Emma Footitt, James E Davison, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
Saskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Journal of Medical Genetics
|
July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
American Journal of Human Genetics
|
January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
Valeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Cell Reports
|
June 11, 2013
NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease
Robert D S Pitceathly, Shamima Rahman, Yehani Wedatilake, et al.
Journal of the American Society of Nephrology : JASN
|
August 19, 2005
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia
Karl P Schlingmann, Martin C Sassen, Stefanie Weber, et al.
Journal of Clinical Medicine
|
July 27, 2019
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial
Bridget E Bax, Michelle Levene, Murray D Bain, et al.
Journal of Inherited Metabolic Disease
|
November 7, 2020
Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome"
Laurence A Bindoff, David A Brown, Gráinne S Gorman, et al.
Brain : a Journal of Neurology
|
September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes
Emma S Reid, Apostolos Papandreou, Suzanne Drury, et al.
Journal of Inherited Metabolic Disease
|
March 18, 2017
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
Amel Karaa, Shamima Rahman, Anne Lombès, et al.
Page
of 19