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ARP Rheumatology|September 7, 2024
Predictors of myositis in mixed connective tissue disease: A multicentre retrospective studyAna Teresa Melo, Manuel Silvério-António, Joana Martins-Martinho, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|December 13, 2016
Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening studyAngelica Nordin, Chizuru Akimoto, Anna Wuolikainen, et al.
Annals of Clinical and Translational Neurology|May 22, 2024
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALSHeather Marriott, Thomas P Spargo, Ahmad Al Khleifat, 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.
Nature Neuroscience|March 25, 2015
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementiaAxel Freischmidt, Thomas Wieland, Benjamin Richter, et al.
Brain : a Journal of Neurology|January 18, 2018
Hot-spot KIF5A mutations cause familial ALSDavid Brenner, Rüstem Yilmaz, Kathrin Müller, 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.
The Lancet. Neurology|March 31, 2018
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction modelHenk-Jan Westeneng, Thomas P A Debray, Anne E Visser, et al.
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