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Movement Disorders : Official Journal of the Movement Disorder Society|July 13, 2019
The genetic and clinico-pathological profile of early-onset progressive supranuclear palsyEdwin Jabbari, John Woodside, Manuela M X Tan, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 23, 2014
Cognitive impairment in multiple system atrophy: a position statement by the Neuropsychology Task Force of the MDS Multiple System Atrophy (MODIMSA) study groupIva Stankovic, Florian Krismer, Aleksandar Jesic, et al.Brain : a Journal of Neurology|April 6, 2021
Identification of multiple system atrophy mimicking Parkinson's disease or progressive supranuclear palsyYasuo Miki, Eiki Tsushima, Sandrine C Foti, et al.Neurobiology of Aging|January 7, 2012
Tau acts as an independent genetic risk factor in pathologically proven PDGavin Charlesworth, Sonia Gandhi, Jose M Bras, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 6, 2016
Clinical features of the myasthenic syndrome arising from mutations in GMPPBPedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, et al.JAMA Neurology|July 9, 2014
A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlationsEleanna Kara, Aoife P Kiely, Christos Proukakis, et al.Molecular Neurodegeneration|August 27, 2015
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutationAoife P Kiely, Helen Ling, Yasmine T Asi, et al.Neurology|January 5, 2018
Atypical periodic paralysis and myalgia: A novel RYR1 phenotypeEmma Matthews, Christoph Neuwirth, Fatima Jaffer, et al.Annals of Clinical and Translational Neurology|December 15, 2021
Genetic defects are common in myopathies with tubular aggregatesQiang Gang, Conceição Bettencourt, Stefen Brady, et al.Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.Pageof 17