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A Minassian

Showing results (291-300 of 324) with videos related to

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Nature Genetics|September 6, 2003
Mutations in NHLRC1 cause progressive myoclonus epilepsyElayne M Chan, Edwin J Young, Leonarda Ianzano, et al.
Acta Neuropathologica Communications|July 25, 2015
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathyAlessandra Ruggieri, Francesco Brancati, Simona Zanotti, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 16, 2006
Sequence variants within exon 1 of MECP2 occur in females with mental retardationChris G Harvey, Sailesh D Menon, Beata Stachowiak, et al.
Annals of Clinical and Translational Neurology|October 9, 2020
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body diseaseErin E Chown, Peixiang Wang, Xiaochu Zhao, et al.
Science (New York, N.Y.)|January 8, 2005
Expanded repeat in canine epilepsyHannes Lohi, Edwin J Young, Susan N Fitzmaurice, et al.
Annals of Neurology|September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficitsAndrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
Epilepsia|October 2, 2014
Mild Lafora disease: clinical, neurophysiologic, and genetic findingsEdoardo Ferlazzo, Laura Canafoglia, Roberto Michelucci, et al.
Neurology. Genetics|December 22, 2017
Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypesMohammed Uddin, Marc Woodbury-Smith, Ada Chan, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 12, 2009
Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNSSteven J Clapcote, Steven Duffy, Gang Xie, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2014
A disulfide tether stabilizes the block of sodium channels by the conotoxin μO§-GVIIJJoanna Gajewiak, Layla Azam, Julita Imperial, et al.
Pageof 33

Showing results (291-300 of 324) with videos related to

Sort By:
Pageof 33
Nature Genetics|September 6, 2003
Mutations in NHLRC1 cause progressive myoclonus epilepsyElayne M Chan, Edwin J Young, Leonarda Ianzano, et al.
Acta Neuropathologica Communications|July 25, 2015
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathyAlessandra Ruggieri, Francesco Brancati, Simona Zanotti, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 16, 2006
Sequence variants within exon 1 of MECP2 occur in females with mental retardationChris G Harvey, Sailesh D Menon, Beata Stachowiak, et al.
Annals of Clinical and Translational Neurology|October 9, 2020
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body diseaseErin E Chown, Peixiang Wang, Xiaochu Zhao, et al.
Science (New York, N.Y.)|January 8, 2005
Expanded repeat in canine epilepsyHannes Lohi, Edwin J Young, Susan N Fitzmaurice, et al.
Annals of Neurology|September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficitsAndrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
Epilepsia|October 2, 2014
Mild Lafora disease: clinical, neurophysiologic, and genetic findingsEdoardo Ferlazzo, Laura Canafoglia, Roberto Michelucci, et al.
Neurology. Genetics|December 22, 2017
Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypesMohammed Uddin, Marc Woodbury-Smith, Ada Chan, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 12, 2009
Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNSSteven J Clapcote, Steven Duffy, Gang Xie, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 6, 2014
A disulfide tether stabilizes the block of sodium channels by the conotoxin μO§-GVIIJJoanna Gajewiak, Layla Azam, Julita Imperial, et al.
Pageof 33