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Neurobiology of Disease|September 14, 2020
Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivoCharlton G Otte, Tyler R Fortuna, Jacob R Mann, et al.Acta Neuropathologica|June 1, 2021
DDX17 is involved in DNA damage repair and modifies FUS toxicity in an RGG-domain dependent mannerTyler R Fortuna, Sukhleen Kour, Eric N Anderson, et al.Acta Neuropathologica|June 27, 2023
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegenerationTyler R Fortuna, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, et al.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.Science Advances|November 10, 2023
CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiologyJuan A Ortega, Ivan R Sasselli, Marco Boccitto, et al.European Journal of Human Genetics : EJHG|February 5, 2024
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatmentMarivi V Cascajo-Almenara, Natalia Juliá-Palacios, Roser Urreizti, et al.Frontiers in Cell and Developmental Biology|March 17, 2022
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, et al.Nature Communications|May 8, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorderSukhleen Kour, Deepa S Rajan, Tyler R Fortuna, et al.Pageof 1