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Martin Engvall

Showing results (31-40 of 44) with videos related to

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BMC Genomics|December 16, 2014
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolismHenrik Stranneheim, Martin Engvall, Karin Naess, et al.
The Journal of Clinical Investigation|July 3, 2025
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasisMenglan He, Mei Ding, Michaela Chocholouskova, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
American Journal of Human Genetics|December 9, 2017
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum DisorderKim D Falkenberg, Nancy E Braverman, Ann B Moser, et al.
JCI Insight|September 17, 2024
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial diseaseSandrina P Correia, Marco F Moedas, Lucie S Taylor, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Journal of Neurology|June 1, 2024
Status epilepticus in POLG disease: a large multinational studyOmar Hikmat, Karin Naess, Martin Engvall, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.
JCI Insight|September 8, 2023
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutationsJingdian Zhang, Camilla Koolmeister, Jinming Han, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
BMC Genomics|December 16, 2014
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolismHenrik Stranneheim, Martin Engvall, Karin Naess, et al.
The Journal of Clinical Investigation|July 3, 2025
SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasisMenglan He, Mei Ding, Michaela Chocholouskova, et al.
Frontiers in Neurology|June 5, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disordersMarlene Ek, Daniel Nilsson, Martin Engvall, et al.
American Journal of Human Genetics|December 9, 2017
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum DisorderKim D Falkenberg, Nancy E Braverman, Ann B Moser, et al.
JCI Insight|September 17, 2024
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial diseaseSandrina P Correia, Marco F Moedas, Lucie S Taylor, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Journal of Neurology|June 1, 2024
Status epilepticus in POLG disease: a large multinational studyOmar Hikmat, Karin Naess, Martin Engvall, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.
JCI Insight|September 8, 2023
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutationsJingdian Zhang, Camilla Koolmeister, Jinming Han, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
Pageof 5