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Neuropediatrics
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May 23, 2022
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant
Luisa Averdunk, Sandra Donkervoort, Denise Horn, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 26, 2022
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
Adela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, et al.
Brain : a Journal of Neurology
|
January 22, 2026
Successful treatment of neonatal COQ2 deficiency with 4-hydroxybenzoic acid
Juliane Münch, Thomas Strahleck, Annette Seibt, et al.
Molecular Biology of the Cell
|
June 26, 2009
Human Golgi antiapoptotic protein modulates intracellular calcium fluxes
Fabrizio de Mattia, Caroline Gubser, Michiel M T van Dommelen, et al.
EMBO Molecular Medicine
|
November 19, 2016
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome
Marta Luna-Sánchez, Agustín Hidalgo-Gutiérrez, Tatjana M Hildebrandt, et al.
American Journal of Human Genetics
|
June 3, 2008
NDUFA2 complex I mutation leads to Leigh disease
Saskia J G Hoefs, Cindy E J Dieteren, Felix Distelmaier, et al.
Brain : a Journal of Neurology
|
December 3, 2015
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
Eliska Holzerova, Katharina Danhauser, Tobias B Haack, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 10, 2026
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency
Luisa Averdunk, Karin Konzett, Hanna Mandel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 1, 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
Isabell Cordts, Luisa Semmler, Jannik Prasuhn, et al.
Brain : a Journal of Neurology
|
September 10, 2025
Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency
Felix Distelmaier, Julia Corral-Sarasa, Laura Jiménez-Sánchez, et al.
Page
of 16
Search research articles
Search
Showing results (81-90 of 151) with videos related to
Sort By:
Page
of 16
Neuropediatrics
|
May 23, 2022
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant
Luisa Averdunk, Sandra Donkervoort, Denise Horn, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
September 26, 2022
Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially
Adela Della Marina, Annikki Bertolini, Andreas Wegener-Panzer, et al.
Brain : a Journal of Neurology
|
January 22, 2026
Successful treatment of neonatal COQ2 deficiency with 4-hydroxybenzoic acid
Juliane Münch, Thomas Strahleck, Annette Seibt, et al.
Molecular Biology of the Cell
|
June 26, 2009
Human Golgi antiapoptotic protein modulates intracellular calcium fluxes
Fabrizio de Mattia, Caroline Gubser, Michiel M T van Dommelen, et al.
EMBO Molecular Medicine
|
November 19, 2016
CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome
Marta Luna-Sánchez, Agustín Hidalgo-Gutiérrez, Tatjana M Hildebrandt, et al.
American Journal of Human Genetics
|
June 3, 2008
NDUFA2 complex I mutation leads to Leigh disease
Saskia J G Hoefs, Cindy E J Dieteren, Felix Distelmaier, et al.
Brain : a Journal of Neurology
|
December 3, 2015
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
Eliska Holzerova, Katharina Danhauser, Tobias B Haack, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 10, 2026
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency
Luisa Averdunk, Karin Konzett, Hanna Mandel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 1, 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
Isabell Cordts, Luisa Semmler, Jannik Prasuhn, et al.
Brain : a Journal of Neurology
|
September 10, 2025
Preclinical and first-in-human evidence of 4-hydroxybenzoic acid for mitochondrial COQ2 deficiency
Felix Distelmaier, Julia Corral-Sarasa, Laura Jiménez-Sánchez, et al.
Page
of 16