Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Neuromuscular Disorders : NMD|December 24, 2019
Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical casesCristiane Araújo Martins Moreno, Eduardo de Paula Estephan, Alan Fappi, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Intermediate filament dysregulation and astrocytopathy in the human disease model of <i>KLHL16</i> mutation in giant axonal neuropathy (GAN)Rachel Battaglia, Maryam Faridounnia, Adriana Beltran, et al.
Molecular Biology of the Cell|September 6, 2023
Intermediate filament dysregulation in astrocytes in the human disease model of <i>KLHL16</i> mutation in giant axonal neuropathy (GAN)Rachel Battaglia, Maryam Faridounnia, Adriana Beltran, et al.
Research Square|February 6, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic ApplicationsSarah Silverstein, Kaushik Ganapathy, Sandra Donkervoort, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|October 3, 2008
Role of GluR1 in activity-dependent motor system developmentLei Zhang, Joachim Schessl, Markus Werner, et al.
American Journal of Medical Genetics. Part A|March 18, 2020
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatmentRebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, et al.
Clinical Genetics|August 6, 2022
A recurrent homozygous missense DPM3 variant leads to muscle and brain diseaseSara Nagy, Tracy Lau, Shahryar Alavi, et al.
Neuromuscular Disorders : NMD|March 5, 2013
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Tyler Mark Pierson, Thomas Markello, John Accardi, et al.
Journal of Neuropathology and Experimental Neurology|August 23, 2013
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disordersEdoardo Malfatti, Montse Olivé, Ana Lía Taratuto, et al.
American Journal of Medical Genetics. Part A|December 31, 2013
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutationsAdeline Vanderver, Davide Tonduti, Ilana Kahn, et al.
Pageof 3