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Didem Demirbas

Showing results (21-30 of 34) with videos related to

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Cell Reports|December 30, 2023
ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasiaJenny Lai, Didem Demirbas, Junho Kim, et al.
Human Reproduction Update|December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemiaBritt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
JIMD Reports|August 9, 2019
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (<i>PDP1</i>) causing pyruvate dehydrogenase complex deficiencyJirair K Bedoyan, Leah Hecht, Shulin Zhang, et al.
JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.
Annals of the Child Neurology Society|August 29, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic EncephalopathyE Naomi Vos, Didem Demirbas, Lance Rodan, et al.
Science Signaling|March 6, 2014
KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitabilityGeoffrey W Abbott, Kwok-Keung Tai, Daniel L Neverisky, et al.
Molecular Genetics and Metabolism|March 24, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsyGerard T Berry, E Naomi Vos, Didem Demirbas, et al.
Orphanet Journal of Rare Diseases|November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemiaMinela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.
Orphanet Journal of Rare Diseases|September 2, 2022
Galactose epimerase deficiency: lessons from the GalNet registryBritt Derks, Didem Demirbas, Rodrigo R Arantes, et al.
Pageof 4

Showing results (21-30 of 34) with videos related to

Sort By:
Pageof 4
Cell Reports|December 30, 2023
ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasiaJenny Lai, Didem Demirbas, Junho Kim, et al.
Human Reproduction Update|December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemiaBritt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
JIMD Reports|August 9, 2019
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (<i>PDP1</i>) causing pyruvate dehydrogenase complex deficiencyJirair K Bedoyan, Leah Hecht, Shulin Zhang, et al.
JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.
Annals of the Child Neurology Society|August 29, 2025
The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic EncephalopathyE Naomi Vos, Didem Demirbas, Lance Rodan, et al.
Science Signaling|March 6, 2014
KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitabilityGeoffrey W Abbott, Kwok-Keung Tai, Daniel L Neverisky, et al.
Molecular Genetics and Metabolism|March 24, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsyGerard T Berry, E Naomi Vos, Didem Demirbas, et al.
Orphanet Journal of Rare Diseases|November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemiaMinela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.
Orphanet Journal of Rare Diseases|September 2, 2022
Galactose epimerase deficiency: lessons from the GalNet registryBritt Derks, Didem Demirbas, Rodrigo R Arantes, et al.
Pageof 4