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Journal of Neurology, Neurosurgery, and Psychiatry
|
February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophy
Anna Sarkozy, Silvia Torelli, Rachael Mein, et al.
Neuromuscular Disorders : NMD
|
January 23, 2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
Ursula Moore, Esther Fernández-Simón, Marianela Schiava, et al.
Frontiers in Neurology
|
January 4, 2021
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, et al.
Neuromuscular Disorders : NMD
|
June 12, 2024
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy
Marianela Schiava, Robert Muni Lofra, John P Bourke, et al.
Human Mutation
|
April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
Andrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Journal of Cachexia, Sarcopenia and Muscle
|
September 4, 2022
Water T2 could predict functional decline in patients with dysferlinopathy
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, et al.
American Journal of Human Genetics
|
October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
Jan Senderek, Carsten Bergmann, Claudia Stendel, et al.
JAMA Neurology
|
April 10, 2023
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial
Priya S Kishnani, Jordi Diaz-Manera, Antonio Toscano, et al.
Annals of Clinical and Translational Neurology
|
August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Biorxiv : the Preprint Server for Biology
|
May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
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of 38
Search research articles
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Showing results (291-300 of 374) with videos related to
Sort By:
Page
of 38
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophy
Anna Sarkozy, Silvia Torelli, Rachael Mein, et al.
Neuromuscular Disorders : NMD
|
January 23, 2023
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
Ursula Moore, Esther Fernández-Simón, Marianela Schiava, et al.
Frontiers in Neurology
|
January 4, 2021
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, et al.
Neuromuscular Disorders : NMD
|
June 12, 2024
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy
Marianela Schiava, Robert Muni Lofra, John P Bourke, et al.
Human Mutation
|
April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies
Andrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Journal of Cachexia, Sarcopenia and Muscle
|
September 4, 2022
Water T2 could predict functional decline in patients with dysferlinopathy
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, et al.
American Journal of Human Genetics
|
October 24, 2003
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
Jan Senderek, Carsten Bergmann, Claudia Stendel, et al.
JAMA Neurology
|
April 10, 2023
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial
Priya S Kishnani, Jordi Diaz-Manera, Antonio Toscano, et al.
Annals of Clinical and Translational Neurology
|
August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Biorxiv : the Preprint Server for Biology
|
May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.
Page
of 38