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Human Molecular Genetics|September 2, 2024
NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneuronsSerena Santangelo, Sabrina Invernizzi, Marta Nice Sorce, et al.Biomedicines|May 27, 2023
Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid SamplesMegi Meneri, Elena Abati, Delia Gagliardi, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|December 15, 2023
Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosisSilvia Peverelli, Alberto Brusati, Valeria Casiraghi, et al.Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|July 6, 2022
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneityImen Kacem, Ikram Sghaier, Nicola Ticozzi, et al.Journal of the Neurological Sciences|September 6, 2024
Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotypeValeria Casiraghi, Ilaria Milone, Alberto Brusati, et al.Stem Cell Research|December 17, 2022
Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type memberChiara Lattuada, Serena Santangelo, Silvia Peverelli, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 24, 2019
PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survivalFederico Verde, Cinzia Tiloca, Claudia Morelli, et al.Neurobiology of Disease|August 23, 2020
Chronic stress induces formation of stress granules and pathological TDP-43 aggregates in human ALS fibroblasts and iPSC-motoneuronsAntonia Ratti, Valentina Gumina, Paola Lenzi, et al.Acta Neuropathologica Communications|May 7, 2016
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblastsElisa Onesto, Claudia Colombrita, Valentina Gumina, et al.Frontiers in Aging Neuroscience|October 17, 2022
TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonismsCinzia Tiloca, Stefano Goldwurm, Narghes Calcagno, et al.Pageof 13