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The Lancet. Neurology|October 4, 2016
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association studyJoanne Trinh, Emil K Gustavsson, Carles Vilariño-Güell, et al.
Human Mutation|March 9, 2007
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementiaJulie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, et al.
Brain : a Journal of Neurology|October 31, 2006
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementiaIsabelle Le Ber, Eric Guedj, Audrey Gabelle, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 23, 2017
Penetrance estimate of LRRK2 p.G2019S mutation in individuals of non-Ashkenazi Jewish ancestryAnnie J Lee, Yuanjia Wang, Roy N Alcalay, et al.
JAMA Neurology|March 10, 2015
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic ParaplegiaCarlo Rinaldi, Thomas Schmidt, Alan J Situ, et al.
Neurobiology of Disease|April 1, 2023
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progressionWalid Khrouf, Dario Saracino, Benoit Rucheton, et al.
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
The Lancet. Neurology|June 10, 2008
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyDaniel G Healy, Mario Falchi, Sean S O'Sullivan, et al.
Brain : a Journal of Neurology|September 8, 2022
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disabilityChristina Fevga, Christelle Tesson, Ana Carreras Mascaro, et al.
The Lancet. Neurology|May 28, 2013
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical studyChristel Depienne, Marianna Bugiani, Céline Dupuits, et al.
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