Showing results (591-600 of 831) with videos related to
Sort By:
Pageof 84
The Journal of Biological Chemistry|July 3, 2010
Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathwayFrances J Evesson, Rachel A Peat, Angela Lek, et al.Plos One|August 14, 2014
Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patientDavid K Miller, Minal J Menezes, Cas Simons, et al.Cellular Signalling|February 14, 2017
Enzymatic cleavage of myoferlin releases a dual C2-domain module linked to ERK signallingAnn-Katrin Piper, Samuel E Ross, Gregory M Redpath, et al.Cerebral Cortex (New York, N.Y. : 1991)|December 28, 2018
EphA4 Regulates Hippocampal Neural Precursor Proliferation in the Adult Mouse Brain by d-Serine Modulation of N-Methyl-d-Aspartate Receptor SignalingJing Zhao, Chanel J Taylor, Estella A Newcombe, et al.Neuromuscular Disorders : NMD|April 26, 2020
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patientsMagdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, et al.International Journal of Cardiology|April 20, 2021
Identification of a novel presumed cardiac sarcoidosis category for patients at high risk of diseaseAndrew N Rosenbaum, Nikhil Kolluri, Mohamed Y Elwazir, et al.Journal of Neuropathology and Experimental Neurology|August 22, 2008
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathyBiljana Ilkovski, Nancy Mokbel, Raymond A Lewis, et al.Molecular Genetics & Genomic Medicine|October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" CohortClara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.Frontiers in Neurology|February 13, 2023
Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variantMatthew Katz, Leigh B Waddell, Michaela Yuen, et al.Sarcoidosis, Vasculitis, and Diffuse Lung Diseases : Official Journal of WASOG|February 15, 2023
Routine Laboratory Biomarkers As Prognostic Indicators of Cardiac Sarcoidosis OutcomesNikhil Kolluri, Tyler J Schmidt, Mohamed Y Elwazir, et al.Pageof 84