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A Minassian

Showing results (281-290 of 324) with videos related to

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JAMA Neurology|February 10, 2015
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body diseaseH Orhan Akman, Or Kakhlon, Jorida Coku, et al.
Acta Neuropathologica|May 27, 2020
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle diseaseAlessandra Ruggieri, Sergey Naumenko, Martin A Smith, et al.
Nature Medicine|June 28, 2024
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patientJames J Dowling, Terry Pirovolakis, Keshini Devakandan, et al.
HGG Advances|November 5, 2025
CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephalyHaoling Xu, Zhen Liu, Fadi F Hamdan, et al.
American Journal of Human Genetics|November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5AChanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.
Nature Genetics|February 28, 2006
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesMichael F Waters, Natali A Minassian, Giovanni Stevanin, et al.
The Journal of Biological Chemistry|October 22, 2013
Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistanceJulie Turnbull, Erica Tiberia, Sandra Pereira, et al.
Brain : a Journal of Neurology|September 11, 2012
Early-onset Lafora body diseaseJulie Turnbull, Jean-Marie Girard, Hannes Lohi, et al.
Plos Genetics|August 11, 2011
LGI2 truncation causes a remitting focal epilepsy in dogsEija H Seppälä, Tarja S Jokinen, Masaki Fukata, et al.
Plos Genetics|April 13, 2018
Global characterization of copy number variants in epilepsy patients from whole genome sequencingJean Monlong, Simon L Girard, Caroline Meloche, et al.
Pageof 33

Showing results (281-290 of 324) with videos related to

Sort By:
Pageof 33
JAMA Neurology|February 10, 2015
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body diseaseH Orhan Akman, Or Kakhlon, Jorida Coku, et al.
Acta Neuropathologica|May 27, 2020
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle diseaseAlessandra Ruggieri, Sergey Naumenko, Martin A Smith, et al.
Nature Medicine|June 28, 2024
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patientJames J Dowling, Terry Pirovolakis, Keshini Devakandan, et al.
HGG Advances|November 5, 2025
CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephalyHaoling Xu, Zhen Liu, Fadi F Hamdan, et al.
American Journal of Human Genetics|November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5AChanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.
Nature Genetics|February 28, 2006
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesMichael F Waters, Natali A Minassian, Giovanni Stevanin, et al.
The Journal of Biological Chemistry|October 22, 2013
Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistanceJulie Turnbull, Erica Tiberia, Sandra Pereira, et al.
Brain : a Journal of Neurology|September 11, 2012
Early-onset Lafora body diseaseJulie Turnbull, Jean-Marie Girard, Hannes Lohi, et al.
Plos Genetics|August 11, 2011
LGI2 truncation causes a remitting focal epilepsy in dogsEija H Seppälä, Tarja S Jokinen, Masaki Fukata, et al.
Plos Genetics|April 13, 2018
Global characterization of copy number variants in epilepsy patients from whole genome sequencingJean Monlong, Simon L Girard, Caroline Meloche, et al.
Pageof 33