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A Minassian

Showing results (221-230 of 324) with videos related to

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Disease Models & Mechanisms|December 13, 2022
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsySharmistha Mitra, Baozhi Chen, Peixiang Wang, et al.
Human Mutation|January 15, 2004
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsyLeonarda Ianzano, Edwin J Young, Xiao C Zhao, et al.
Genes|September 23, 2022
SLC13A5 Deficiency Disorder: From Genetics to Gene TherapyKimberly Goodspeed, Judy S Liu, Kimberly L Nye, et al.
Brain : a Journal of Neurology|May 16, 2021
Gys1 antisense therapy rescues neuropathological bases of murine Lafora diseaseSaija Ahonen, Silvia Nitschke, Tamar R Grossman, et al.
Neuromuscular Disorders : NMD|February 17, 2015
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagyA Ruggieri, N Ramachandran, P Wang, et al.
Plos One|April 5, 2014
Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expressionMarija Orlic-Milacic, Liana Kaufman, Anna Mikhailov, et al.
The Journal of Biological Chemistry|October 15, 2008
Abnormal metabolism of glycogen phosphate as a cause for Lafora diseaseVincent S Tagliabracci, Jean Marie Girard, Dyann Segvich, et al.
Annals of Clinical and Translational Neurology|June 9, 2022
Assessment of burden and segregation profiles of CNVs in patients with epilepsyClaudia Moreau, Frédérique Tremblay, Stefan Wolking, et al.
The Biochemical Journal|August 23, 2017
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body diseaseLeonardo J Solmesky, Netaly Khazanov, Hanoch Senderowitz, et al.
Journal of Medical Genetics|December 5, 2006
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patientsY Petel-Galil, B Benteer, Y P Galil, et al.
Pageof 33

Showing results (221-230 of 324) with videos related to

Sort By:
Pageof 33
Disease Models & Mechanisms|December 13, 2022
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsySharmistha Mitra, Baozhi Chen, Peixiang Wang, et al.
Human Mutation|January 15, 2004
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsyLeonarda Ianzano, Edwin J Young, Xiao C Zhao, et al.
Genes|September 23, 2022
SLC13A5 Deficiency Disorder: From Genetics to Gene TherapyKimberly Goodspeed, Judy S Liu, Kimberly L Nye, et al.
Brain : a Journal of Neurology|May 16, 2021
Gys1 antisense therapy rescues neuropathological bases of murine Lafora diseaseSaija Ahonen, Silvia Nitschke, Tamar R Grossman, et al.
Neuromuscular Disorders : NMD|February 17, 2015
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagyA Ruggieri, N Ramachandran, P Wang, et al.
Plos One|April 5, 2014
Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expressionMarija Orlic-Milacic, Liana Kaufman, Anna Mikhailov, et al.
The Journal of Biological Chemistry|October 15, 2008
Abnormal metabolism of glycogen phosphate as a cause for Lafora diseaseVincent S Tagliabracci, Jean Marie Girard, Dyann Segvich, et al.
Annals of Clinical and Translational Neurology|June 9, 2022
Assessment of burden and segregation profiles of CNVs in patients with epilepsyClaudia Moreau, Frédérique Tremblay, Stefan Wolking, et al.
The Biochemical Journal|August 23, 2017
A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body diseaseLeonardo J Solmesky, Netaly Khazanov, Hanoch Senderowitz, et al.
Journal of Medical Genetics|December 5, 2006
Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patientsY Petel-Galil, B Benteer, Y P Galil, et al.
Pageof 33