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Neuromuscular Disorders : NMD
|
March 4, 2014
Diagnostic approach to the congenital muscular dystrophies
Carsten G Bönnemann, Ching H Wang, Susana Quijano-Roy, et al.
Science Advances
|
February 17, 2023
DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose
Kaoru Inoue, Hamed Bostan, MaKenna R Browne, et al.
Cell
|
September 17, 2002
Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration
Ronald D Cohn, Michael D Henry, Daniel E Michele, et al.
Nature
|
July 26, 2002
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
Daniel E Michele, Rita Barresi, Motoi Kanagawa, et al.
BMC Research Notes
|
December 15, 2011
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2
Claudia Di Blasi, Emanuela Bellafiore, Mustafa Am Salih, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 14, 2005
Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier
Simona Occhi, Desirée Zambroni, Ubaldo Del Carro, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 23, 2009
Visual impairment in the absence of dystroglycan
Jakob S Satz, Alisdair R Philp, Huy Nguyen, et al.
Molecular Genetics & Genomic Medicine
|
March 25, 2015
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics
Samiah A Al-Zaidy, Vinod Malik, Kelley Kneile, et al.
Archives of Pathology & Laboratory Medicine
|
September 1, 2018
Validation of a Muscle-Specific Tissue Image Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies
Famke Aeffner, Crystal Faelan, Steven A Moore, et al.
Annals of Neurology
|
October 1, 2008
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity
Rishika A Pace, Rachel A Peat, Naomi L Baker, et al.
Page
of 15
Search research articles
Search
Showing results (101-110 of 141) with videos related to
Sort By:
Page
of 15
Neuromuscular Disorders : NMD
|
March 4, 2014
Diagnostic approach to the congenital muscular dystrophies
Carsten G Bönnemann, Ching H Wang, Susana Quijano-Roy, et al.
Science Advances
|
February 17, 2023
DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose
Kaoru Inoue, Hamed Bostan, MaKenna R Browne, et al.
Cell
|
September 17, 2002
Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration
Ronald D Cohn, Michael D Henry, Daniel E Michele, et al.
Nature
|
July 26, 2002
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
Daniel E Michele, Rita Barresi, Motoi Kanagawa, et al.
BMC Research Notes
|
December 15, 2011
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2
Claudia Di Blasi, Emanuela Bellafiore, Mustafa Am Salih, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 14, 2005
Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier
Simona Occhi, Desirée Zambroni, Ubaldo Del Carro, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
|
October 23, 2009
Visual impairment in the absence of dystroglycan
Jakob S Satz, Alisdair R Philp, Huy Nguyen, et al.
Molecular Genetics & Genomic Medicine
|
March 25, 2015
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics
Samiah A Al-Zaidy, Vinod Malik, Kelley Kneile, et al.
Archives of Pathology & Laboratory Medicine
|
September 1, 2018
Validation of a Muscle-Specific Tissue Image Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies
Famke Aeffner, Crystal Faelan, Steven A Moore, et al.
Annals of Neurology
|
October 1, 2008
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity
Rishika A Pace, Rachel A Peat, Naomi L Baker, et al.
Page
of 15