Clinical and neuropathological features of progressive supranuclear palsy in Leucine rich repeat kinase (LRRK2) G2019S mutation carriers
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27225
Abstract: Niraj Kumar, MD, DM, Aditya Murgai, MD, DM, Taline Naranian, RN, Mandar Jog, MD, FRCPC, Alfonso Fasano, MD, PhD Department of Clinical Neurological Sciences, Western University, London, ON, Canada Morton and Gloria Shulman Movement Disorders… read more here.
Keywords: supranuclear palsy; palsy leucine; features progressive; neuropathological features ... See more keywords
Clinical and neuropathological variability in the rare IVS10 + 14 tau mutation
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2021.01.004
Abstract: Mutations in the microtubule-associated protein tau gene are known to cause progressive neurodegenerative disorders with variable clinical and neuropathological phenotypes, including the intronic 10 + 14 (IVS10 + 14) splice site mutation. Three families have been reported… read more here.
Keywords: neuropathological variability; ivs10; clinical neuropathological; tau mutation ... See more keywords