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Human Mutation|July 18, 2017
The role of de novo mutations in the development of amyotrophic lateral sclerosisPerry T C van Doormaal, Nicola Ticozzi, Jochen H Weishaupt, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 13, 2025
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implicationsAlfredo Iacoangeli, Allison A Dilliott, Ahmad Al Khleifat, et al.
Frontiers in Cellular Neuroscience|March 20, 2023
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survivalBrett N Adey, Johnathan Cooper-Knock, Ahmad Al Khleifat, et al.
Neurobiology of Aging|July 24, 2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionMartina de Majo, Simon D Topp, Bradley N Smith, et al.
Annals of Neurology|January 3, 2021
The Effect of SMN Gene Dosage on ALS Risk and Disease SeverityMatthieu Moisse, Ramona A J Zwamborn, Joke van Vugt, et al.
Neurobiology of Aging|May 20, 2014
Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival studyPerry T C van Doormaal, Nicola Ticozzi, Cinzia Gellera, et al.
Brain : a Journal of Neurology|April 12, 2023
Genetic variability in sporadic amyotrophic lateral sclerosisSien Hilde Van Daele, Matthieu Moisse, Joke J F A van Vugt, et al.
Nature|July 18, 2012
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi-Hong Wu, Claudia Fallini, Nicola Ticozzi, et al.
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