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Neuropathology and Applied Neurobiology|May 2, 2022
Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cellsVeronica Ferrari, Riccardo Cristofani, Maria E Cicardi, et al.Circulation. Cardiovascular Genetics|November 9, 2013
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac deathAndreas Brodehl, Mareike Dieding, Bärbel Klauke, et al.Nucleic Acids Research|March 15, 2019
Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disordersBrooke E Hjelm, Brandi Rollins, Ling Morgan, et al.Nature Communications|January 10, 2026
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionPeter Nordbeck, Ozlem Goker-Alpan, John A Bernat, et al.Journal of Medical Genetics|June 11, 2020
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrumVirginia Kimonis, Rehab Al Dubaisi, Andrew E Maclean, et al.European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.Brain : a Journal of Neurology|September 21, 2006
Pathological consequences of VCP mutations on human striated muscleChristian U Hübbers, Christoph S Clemen, Kristina Kesper, et al.American Journal of Medical Genetics. Part A|November 16, 2007
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty, Felicitas Lacbawan, Donald W Hadley, et al.Autophagy|February 28, 2023
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathiesBarbara Tedesco, Leen Vendredy, Elias Adriaenssens, et al.Human Mutation|April 28, 2016
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor ImpairmentMyriam Srour, Véronique Caron, Toni Pearson, et al.Pageof 12