Oxidative stress is not a major contributor to somatic mitochondrial DNA mutations LS Itsara, SR Kennedy, EJ Fox, S Yu, JJ Hewitt, M Sanchez-Contreras, ... PLoS genetics 10 (2), e1003974, 2014 | 182 | 2014 |
Genetics of FTLD: overview and what else we can expect from genetic studies C Pottier, TA Ravenscroft, M Sanchez‐Contreras, R Rademakers Journal of neurochemistry 138, 32-53, 2016 | 155 | 2016 |
APOE ε2 is associated with increased tau pathology in primary tauopathy N Zhao, CC Liu, AJ Van Ingelgom, C Linares, A Kurti, JA Knight, ... Nature Communications 9 (1), 4388, 2018 | 123 | 2018 |
A point mutation in PDGFRB causes autosomal-dominant Penttinen syndrome JJ Johnston, MY Sanchez-Contreras, KM Keppler-Noreuil, J Sapp, ... The American Journal of Human Genetics 97 (3), 465-474, 2015 | 77 | 2015 |
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci MY Sanchez-Contreras, N Kouri, CN Cook, DJ Serie, MG Heckman, ... Molecular neurodegeneration 13, 1-10, 2018 | 71 | 2018 |
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia M Baker, AJ Strongosky, MY Sanchez-Contreras, S Yang, W Ferguson, ... Neurogenetics 15, 23-30, 2014 | 71 | 2014 |
Factores de riesgo cardiovascular en poblaciones jóvenes M Sánchez-Contreras, GA Moreno-Gómez, ME Marín-Grisales, ... Revista de salud pública 11 (1), 110-122, 2009 | 63 | 2009 |
Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration M Sanchez‐Contreras, MG Heckman, P Tacik, N Diehl, PH Brown, ... Movement Disorders 32 (1), 115-123, 2017 | 61 | 2017 |
Genetic Screening and Functional Characterization of PDGFRB Mutations Associated with Basal Ganglia Calcification of Unknown Etiology M Sanchez‐Contreras, MC Baker, NCA Finch, A Nicholson, A Wojtas, ... Human mutation 35 (8), 964-971, 2014 | 56 | 2014 |
Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy S Koga, M Sanchez‐Contreras, KA Josephs, RJ Uitti, N Graff‐Radford, ... Movement Disorders 32 (2), 246-255, 2017 | 54 | 2017 |
A novel tau mutation, p. K317N, causes globular glial tauopathy P Tacik, M DeTure, WL Lin, M Sanchez Contreras, A Wojtas, KM Hinkle, ... Acta neuropathologica 130, 199-214, 2015 | 49 | 2015 |
Genetic disorders with tau pathology: a review of the literature and report of two patients with tauopathy and positive family histories P Tacik, M Sanchez-Contreras, R Rademakers, DW Dickson, ZK Wszolek Neurodegenerative Diseases 16 (1-2), 12-21, 2016 | 48 | 2016 |
A novel tau mutation in exon 12, p. Q336H, causes hereditary Pick disease P Tacik, M DeTure, KM Hinkle, WL Lin, M Sanchez-Contreras, ... Journal of Neuropathology & Experimental Neurology 74 (11), 1042-1052, 2015 | 48 | 2015 |
Ogg1 null mice exhibit age-associated loss of the nigrostriatal pathway and increased sensitivity to MPTP F Cardozo-Pelaez, M Sanchez-Contreras, ABC Nevin Neurochemistry international 61 (5), 721-730, 2012 | 47 | 2012 |
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) due to microtubule‐associated protein tau (MAPT) p. P301L mutation … P Tacik, M Sanchez‐Contreras, M DeTure, ME Murray, R Rademakers, ... Neuropathology and applied neurobiology 43 (3), 200-214, 2017 | 45 | 2017 |
Cognitive impairment in progressive supranuclear palsy is associated with tau burden S Koga, A Parks, K Kasanuki, M Sanchez‐Contreras, MC Baker, ... Movement Disorders 32 (12), 1772-1779, 2017 | 42 | 2017 |
Deterioro cognitivo, nivel educativo y ocupación en una población de una clínica de memoria MS Contreras, GAM Gómez, LHG Ortiz Revista Colombiana de Psiquiatría 39 (2), 347-361, 2010 | 33 | 2010 |
A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA M Sanchez-Contreras, MT Sweetwyne, BF Kohrn, KA Tsantilas, MJ Hipp, ... Nucleic Acids Research 49 (19), 11103-11118, 2021 | 28 | 2021 |
Tremor in progressive supranuclear palsy S Fujioka, AA Algom, ME Murray, MY Sanchez-Contreras, P Tacik, ... Parkinsonism & related disorders 27, 93-97, 2016 | 27 | 2016 |
The complicated nature of somatic mtDNA mutations in aging M Sanchez-Contreras, SR Kennedy Frontiers in aging 2, 805126, 2022 | 25 | 2022 |