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A Minassian

Showing results (301-310 of 324) with videos related to

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EMBO Molecular Medicine|September 6, 2021
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolismOr Kakhlon, Hilla Vaknin, Kumudesh Mishra, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|September 12, 2023
Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse ModelKatherine J Donohue, Bethany Fitzsimmons, Ronald C Bruntz, et al.
Communications Biology|May 20, 2024
GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in miceRahmawati Aisyah, Noriyasu Ohshima, Daiki Watanabe, et al.
Nature Genetics|October 15, 1998
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsyB A Minassian, J R Lee, J A Herbrick, et al.
Neurology. Genetics|June 8, 2017
<i>ARHGEF9</i> disease: Phenotype clarification and genotype-phenotype correlationMichael Alber, Vera M Kalscheuer, Elysa Marco, et al.
Brain : a Journal of Neurology|January 27, 2022
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiencySilvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, et al.
Ebiomedicine|June 9, 2022
The role of common genetic variation in presumed monogenic epilepsiesCiarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.
Cell|April 22, 2009
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Acta Neuropathologica|January 15, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Nature Communications|November 24, 2020
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial diseasePhilipp Gut, Sanna Matilainen, Jesse G Meyer, et al.
Pageof 33

Showing results (301-310 of 324) with videos related to

Sort By:
Pageof 33
EMBO Molecular Medicine|September 6, 2021
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolismOr Kakhlon, Hilla Vaknin, Kumudesh Mishra, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|September 12, 2023
Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse ModelKatherine J Donohue, Bethany Fitzsimmons, Ronald C Bruntz, et al.
Communications Biology|May 20, 2024
GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in miceRahmawati Aisyah, Noriyasu Ohshima, Daiki Watanabe, et al.
Nature Genetics|October 15, 1998
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsyB A Minassian, J R Lee, J A Herbrick, et al.
Neurology. Genetics|June 8, 2017
<i>ARHGEF9</i> disease: Phenotype clarification and genotype-phenotype correlationMichael Alber, Vera M Kalscheuer, Elysa Marco, et al.
Brain : a Journal of Neurology|January 27, 2022
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiencySilvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, et al.
Ebiomedicine|June 9, 2022
The role of common genetic variation in presumed monogenic epilepsiesCiarán Campbell, Costin Leu, Yen-Chen Anne Feng, et al.
Cell|April 22, 2009
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Acta Neuropathologica|January 15, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Nature Communications|November 24, 2020
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial diseasePhilipp Gut, Sanna Matilainen, Jesse G Meyer, et al.
Pageof 33