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Kenneth H Fischbeck

Showing results (71-80 of 139) with videos related to

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The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|October 13, 2006
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axonsAnthony Antonellis, Shih-Queen Lee-Lin, Amy Wasterlain, et al.
Neuron|August 15, 2009
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophyIsabella Palazzolo, Conor Stack, Lingling Kong, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 13, 2016
MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular AtrophyNaemeh Pourshafie, Philip R Lee, Ke-Lian Chen, et al.
The Journal of Biological Chemistry|March 27, 2014
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathyXiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, et al.
Rehabilitation Research and Practice|November 2, 2021
Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick TurnJoseph A Shrader, Ashwini Sansare, Vincent Shieh, et al.
Neurobiology of Disease|June 14, 2014
Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patientsChristopher Grunseich, Kristen Zukosky, Ilona R Kats, et al.
American Journal of Human Genetics|February 29, 2008
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intoleranceFanny Mochel, Melanie A Knight, Wing-Hang Tong, et al.
Cell Reports|May 12, 2021
A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron proteinNikki M McCormack, Mahlet B Abera, Eveline S Arnold, et al.
Molecular Therapy. Nucleic Acids|February 12, 2021
Targeting the 5' untranslated region of <i>SMN2</i> as a therapeutic strategy for spinal muscular atrophyAudrey M Winkelsas, Christopher Grunseich, George G Harmison, et al.
Annals of Neurology|September 27, 2002
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseaseHenry L Paulson, James Y Garbern, Timothy F Hoban, et al.
Pageof 14

Showing results (71-80 of 139) with videos related to

Sort By:
Pageof 14
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|October 13, 2006
Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axonsAnthony Antonellis, Shih-Queen Lee-Lin, Amy Wasterlain, et al.
Neuron|August 15, 2009
Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophyIsabella Palazzolo, Conor Stack, Lingling Kong, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 13, 2016
MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular AtrophyNaemeh Pourshafie, Philip R Lee, Ke-Lian Chen, et al.
The Journal of Biological Chemistry|March 27, 2014
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathyXiaoyan Lin, Janelle Ruiz, Ilda Bajraktari, et al.
Rehabilitation Research and Practice|November 2, 2021
Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick TurnJoseph A Shrader, Ashwini Sansare, Vincent Shieh, et al.
Neurobiology of Disease|June 14, 2014
Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patientsChristopher Grunseich, Kristen Zukosky, Ilona R Kats, et al.
American Journal of Human Genetics|February 29, 2008
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intoleranceFanny Mochel, Melanie A Knight, Wing-Hang Tong, et al.
Cell Reports|May 12, 2021
A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron proteinNikki M McCormack, Mahlet B Abera, Eveline S Arnold, et al.
Molecular Therapy. Nucleic Acids|February 12, 2021
Targeting the 5' untranslated region of <i>SMN2</i> as a therapeutic strategy for spinal muscular atrophyAudrey M Winkelsas, Christopher Grunseich, George G Harmison, et al.
Annals of Neurology|September 27, 2002
Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth diseaseHenry L Paulson, James Y Garbern, Timothy F Hoban, et al.
Pageof 14