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Kenneth H Fischbeck

Showing results (91-100 of 139) with videos related to

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Human Molecular Genetics|March 11, 2016
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophyLaura C Bott, Nisha M Badders, Ke-Lian Chen, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 18, 2013
Mechanisms, models and biomarkers in amyotrophic lateral sclerosisMartin R Turner, Robert Bowser, Lucie Bruijn, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Nature Genetics|March 11, 2003
Mutant dynactin in motor neuron diseaseImke Puls, Catherine Jonnakuty, Bernadette H LaMonte, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Journal of Neurology|November 13, 2012
Novel mutation in the ATM gene in a Malian family with ataxia telangiectasiaGuida Landouré, Fanny Mochel, Katherine Meilleur, et al.
The Journal of Cell Biology|March 1, 2006
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregationJennifer R Levy, Charlotte J Sumner, Juliane P Caviston, et al.
Brain : a Journal of Neurology|October 23, 2009
Clinical features of spinal and bulbar muscular atrophyLindsay E Rhodes, Brandi K Freeman, Sungyoung Auh, et al.
Neurology|June 8, 2012
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C familyGuida Landouré, Jeremy M Sullivan, Janel O Johnson, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Sexual Reassignment Fails to Prevent Kennedy's DiseaseTyler A Lanman, Dara Bakar, Nisha M Badders, et al.
Pageof 14

Showing results (91-100 of 139) with videos related to

Sort By:
Pageof 14
Human Molecular Genetics|March 11, 2016
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophyLaura C Bott, Nisha M Badders, Ke-Lian Chen, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 18, 2013
Mechanisms, models and biomarkers in amyotrophic lateral sclerosisMartin R Turner, Robert Bowser, Lucie Bruijn, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Nature Genetics|March 11, 2003
Mutant dynactin in motor neuron diseaseImke Puls, Catherine Jonnakuty, Bernadette H LaMonte, et al.
Human Mutation|August 30, 2012
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAimée Vester, Gisselle Velez-Ruiz, Heather M McLaughlin, et al.
Journal of Neurology|November 13, 2012
Novel mutation in the ATM gene in a Malian family with ataxia telangiectasiaGuida Landouré, Fanny Mochel, Katherine Meilleur, et al.
The Journal of Cell Biology|March 1, 2006
A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregationJennifer R Levy, Charlotte J Sumner, Juliane P Caviston, et al.
Brain : a Journal of Neurology|October 23, 2009
Clinical features of spinal and bulbar muscular atrophyLindsay E Rhodes, Brandi K Freeman, Sungyoung Auh, et al.
Neurology|June 8, 2012
Exome sequencing identifies a novel TRPV4 mutation in a CMT2C familyGuida Landouré, Jeremy M Sullivan, Janel O Johnson, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Sexual Reassignment Fails to Prevent Kennedy's DiseaseTyler A Lanman, Dara Bakar, Nisha M Badders, et al.
Pageof 14