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Biorxiv : the Preprint Server for Biology|April 17, 2023
Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS lociNurlan Kerimov, Ralf Tambets, James D Hayhurst, et al.Plos One|July 30, 2011
Pathogenic LRRK2 mutations do not alter gene expression in cell model systems or human brain tissueMichael J Devine, Alice Kaganovich, Mina Ryten, et al.Science Translational Medicine|October 16, 2015
Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer's disease mouse modelsYunhong Huang, Aneta Skwarek-Maruszewska, Katrien Horré, et al.Annals of Human Genetics|January 31, 2013
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk LociPatrick Holton, Mina Ryten, Michael Nalls, et al.Plos One|August 23, 2013
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locusDaniah Trabzuni, Mina Ryten, Warren Emmett, et al.Brain : a Journal of Neurology|September 8, 2022
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 lociMarc P M Soutar, Daniela Melandri, Benjamin O'Callaghan, et al.American Journal of Human Genetics|May 19, 2015
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaNiccolo E Mencacci, Ignacio Rubio-Agusti, Anselm Zdebik, et al.Nature|May 20, 2021
MIR-NATs repress MAPT translation and aid proteostasis in neurodegenerationRoberto Simone, Faiza Javad, Warren Emmett, et al.Brain : a Journal of Neurology|March 25, 2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane traffickingLeslie E Sanderson, Kristina Lanko, Maysoon Alsagob, et al.Brain : a Journal of Neurology|September 10, 2013
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1ADalia Kasperaviciute, Claudia B Catarino, Mar Matarin, et al.Pageof 5