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Genetic Testing and Molecular Biomarkers
|
January 12, 2010
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent
Chai Saechao, Yadira Valles-Ayoub, Saghi Esfandiarifard, et al.
Plos One
|
October 17, 2012
Autoantibodies produced at the site of tissue damage provide evidence of humoral autoimmunity in inclusion body myositis
Arundhati Ray, Anthony A Amato, Elizabeth M Bradshaw, et al.
Annals of Clinical and Translational Neurology
|
August 3, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Brain : a Journal of Neurology
|
October 23, 2002
Novel CLCN1 mutations with unique clinical and electrophysiological consequences
Fen-Fen Wu, Aisling Ryan, Joseph Devaney, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 31, 2024
Rare <i>ACTN2</i> Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation
Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
JAMA
|
March 11, 2025
CNM-Au8 in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial
, James D Berry, Nicholas J Maragakis, et al.
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of 3
Search research articles
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Showing results (21-30 of 26) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 26 results.
Genetic Testing and Molecular Biomarkers
|
January 12, 2010
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent
Chai Saechao, Yadira Valles-Ayoub, Saghi Esfandiarifard, et al.
Plos One
|
October 17, 2012
Autoantibodies produced at the site of tissue damage provide evidence of humoral autoimmunity in inclusion body myositis
Arundhati Ray, Anthony A Amato, Elizabeth M Bradshaw, et al.
Annals of Clinical and Translational Neurology
|
August 3, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
Brain : a Journal of Neurology
|
October 23, 2002
Novel CLCN1 mutations with unique clinical and electrophysiological consequences
Fen-Fen Wu, Aisling Ryan, Joseph Devaney, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 31, 2024
Rare <i>ACTN2</i> Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation
Johanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, et al.
JAMA
|
March 11, 2025
CNM-Au8 in Amyotrophic Lateral Sclerosis: The HEALEY ALS Platform Trial
, James D Berry, Nicholas J Maragakis, et al.
Page
of 3