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Kenneth H Fischbeck

Showing results (81-90 of 139) with videos related to

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Annals of Clinical and Translational Neurology|September 15, 2017
Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophyAmi Mankodi, William Kovacs, Gina Norato, et al.
Neurobiology of Disease|May 9, 2014
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in DrosophilaBiljana Ermanoska, William W Motley, Ricardo Leitão-Gonçalves, et al.
Plos Genetics|December 7, 2011
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsWilliam W Motley, Kevin L Seburn, Mir Hussain Nawaz, et al.
The Journal of Clinical Investigation|February 24, 2007
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophyAmy M Avila, Barrington G Burnett, Addis A Taye, et al.
Neuromuscular Disorders : NMD|April 28, 2015
A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal studyAtsushi Hashizume, Masahisa Katsuno, Keisuke Suzuki, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 20, 2008
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal DysplasiaMargaret M Timmons, James Garbern, Pamela G Robey, et al.
Nature Reviews. Neurology|May 23, 2025
Advancing neurogenetics in Africa: past achievements, current developments and shaping the futureGuida Landouré, Abdoulaye Yalcouyé, Salimata Diarra, et al.
Journal of Neurology|March 5, 2015
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiencyChristopher Grunseich, Alice B Schindler, Ke-Lian Chen, et al.
Annals of Clinical and Translational Neurology|April 7, 2017
A novel mutation in <i>KIF5A</i> in a Malian family with spastic paraplegia and sensory lossCheick O Guinto, Salimata Diarra, Salimata Diallo, et al.
Annals of Neurology|November 5, 2003
Valproic acid increases SMN levels in spinal muscular atrophy patient cellsCharlotte J Sumner, Thanh N Huynh, Jennifer A Markowitz, et al.
Pageof 14

Showing results (81-90 of 139) with videos related to

Sort By:
Pageof 14
Annals of Clinical and Translational Neurology|September 15, 2017
Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophyAmi Mankodi, William Kovacs, Gina Norato, et al.
Neurobiology of Disease|May 9, 2014
CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in DrosophilaBiljana Ermanoska, William W Motley, Ricardo Leitão-Gonçalves, et al.
Plos Genetics|December 7, 2011
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsWilliam W Motley, Kevin L Seburn, Mir Hussain Nawaz, et al.
The Journal of Clinical Investigation|February 24, 2007
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophyAmy M Avila, Barrington G Burnett, Addis A Taye, et al.
Neuromuscular Disorders : NMD|April 28, 2015
A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal studyAtsushi Hashizume, Masahisa Katsuno, Keisuke Suzuki, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 20, 2008
WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal DysplasiaMargaret M Timmons, James Garbern, Pamela G Robey, et al.
Nature Reviews. Neurology|May 23, 2025
Advancing neurogenetics in Africa: past achievements, current developments and shaping the futureGuida Landouré, Abdoulaye Yalcouyé, Salimata Diarra, et al.
Journal of Neurology|March 5, 2015
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiencyChristopher Grunseich, Alice B Schindler, Ke-Lian Chen, et al.
Annals of Clinical and Translational Neurology|April 7, 2017
A novel mutation in <i>KIF5A</i> in a Malian family with spastic paraplegia and sensory lossCheick O Guinto, Salimata Diarra, Salimata Diallo, et al.
Annals of Neurology|November 5, 2003
Valproic acid increases SMN levels in spinal muscular atrophy patient cellsCharlotte J Sumner, Thanh N Huynh, Jennifer A Markowitz, et al.
Pageof 14