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Guy M Lenk

Showing results (31-40 of 45) with videos related to

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Annals of Neurology|January 17, 2020
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet SyndromeGuy M Lenk, Paymaan Jafar-Nejad, Sophie F Hill, et al.
Human Molecular Genetics|September 5, 2014
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathyIlaria Vaccari, Antonietta Carbone, Stefano Carlo Previtali, et al.
Elife|March 24, 2016
PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanismsYevgeniya A Mironova, Guy M Lenk, Jing-Ping Lin, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 11, 2012
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5PSergey N Zolov, Dave Bridges, Yanling Zhang, et al.
American Journal of Human Genetics|January 3, 2009
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALSClement Y Chow, John E Landers, Sarah K Bergren, et al.
Brain : a Journal of Neurology|June 28, 2011
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4Garth Nicholson, Guy M Lenk, Stephen W Reddel, et al.
Neurology|March 7, 2014
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyriaStéphanie Baulac, Guy M Lenk, Béatrice Dufresnois, et al.
American Journal of Human Genetics|April 30, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatasePhilippe M Campeau, Guy M Lenk, James T Lu, et al.
Neurobiology of Disease|June 4, 2026
Early-onset neuroinflammation drives neurodegeneration caused by lysosomal PI(3,5)P<sub>2</sub> insufficiencyBridget Wong, Morgan Payne, Alexander Silva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Annals of Neurology|January 17, 2020
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet SyndromeGuy M Lenk, Paymaan Jafar-Nejad, Sophie F Hill, et al.
Human Molecular Genetics|September 5, 2014
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathyIlaria Vaccari, Antonietta Carbone, Stefano Carlo Previtali, et al.
Elife|March 24, 2016
PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanismsYevgeniya A Mironova, Guy M Lenk, Jing-Ping Lin, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 11, 2012
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5PSergey N Zolov, Dave Bridges, Yanling Zhang, et al.
American Journal of Human Genetics|January 3, 2009
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALSClement Y Chow, John E Landers, Sarah K Bergren, et al.
Brain : a Journal of Neurology|June 28, 2011
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4Garth Nicholson, Guy M Lenk, Stephen W Reddel, et al.
Neurology|March 7, 2014
Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyriaStéphanie Baulac, Guy M Lenk, Béatrice Dufresnois, et al.
American Journal of Human Genetics|April 30, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatasePhilippe M Campeau, Guy M Lenk, James T Lu, et al.
Neurobiology of Disease|June 4, 2026
Early-onset neuroinflammation drives neurodegeneration caused by lysosomal PI(3,5)P<sub>2</sub> insufficiencyBridget Wong, Morgan Payne, Alexander Silva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.
Pageof 5