Seguir
Niccolò Emanuele Mencacci
Niccolò Emanuele Mencacci
Assistant Professor, Northwestern University, Department of Neurology
E-mail confirmado em northwestern.edu
Título
Citado por
Citado por
Ano
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies
MA Nalls, C Blauwendraat, CL Vallerga, K Heilbron, S Bandres-Ciga, ...
The Lancet Neurology 18 (12), 1091-1102, 2019
17702019
Long-term clinical outcome of fetal cell transplantation for Parkinson disease: two case reports
Z Kefalopoulou, M Politis, P Piccini, N Mencacci, K Bhatia, M Jahanshahi, ...
JAMA neurology 71 (1), 83-87, 2014
3742014
Glucocerebrosidase mutations influence the natural history of Parkinson’s disease in a community-based incident cohort
SE Winder-Rhodes, JR Evans, M Ban, SL Mason, CH Williams-Gray, ...
Brain 136 (2), 392-399, 2013
3452013
Dystonia
B Balint, NE Mencacci, EM Valente, A Pisani, J Rothwell, J Jankovic, ...
Nature reviews Disease primers 4 (1), 25, 2018
3272018
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ...
Nature genetics 49 (2), 223-237, 2017
2232017
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
NE Mencacci, IU Isaias, MM Reich, C Ganos, V Plagnol, JM Polke, J Bras, ...
Brain 137 (9), 2480-2492, 2014
2182014
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
2082019
Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia
J Hersheson, NE Mencacci, M Davis, N MacDonald, D Trabzuni, M Ryten, ...
Annals of neurology 73 (4), 546-553, 2013
2012013
Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson’s disease
I Celardo, AC Costa, S Lehmann, C Jones, N Wood, NE Mencacci, ...
Cell death & disease 7 (6), e2271-e2271, 2016
1742016
Parkin disease: a clinicopathologic entity?
KM Doherty, L Silveira-Moriyama, L Parkkinen, DG Healy, M Farrell, ...
JAMA neurology 70 (5), 571-579, 2013
1702013
A genome-wide association study in multiple system atrophy
A Sailer, SW Scholz, MA Nalls, C Schulte, M Federoff, TR Price, A Lees, ...
Neurology 87 (15), 1591-1598, 2016
1622016
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
R Duran, NE Mencacci, AV Angeli, M Shoai, E Deas, H Houlden, A Mehta, ...
Movement Disorders 28 (2), 232-236, 2013
1582013
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia
NE Mencacci, I Rubio-Agusti, A Zdebik, F Asmus, MHR Ludtmann, ...
The American Journal of Human Genetics 96 (6), 938-947, 2015
1402015
Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets
DA Kia, D Zhang, S Guelfi, C Manzoni, L Hubbard, RH Reynolds, J Botía, ...
JAMA neurology 78 (4), 464-472, 2021
1352021
Recessive mutations in VPS13D cause childhood onset movement disorders
J Gauthier, IA Meijer, D Lessel, NE Mencacci, D Krainc, M Hempel, ...
Annals of neurology 83 (6), 1089-1095, 2018
1272018
De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions
NE Mencacci, EJ Kamsteeg, K Nakashima, L R’Bibo, DS Lynch, B Balint, ...
The American Journal of Human Genetics 98 (4), 763-771, 2016
1262016
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
KJ Billingsley, IA Barbosa, S Bandrés-Ciga, JP Quinn, VJ Bubb, ...
npj Parkinson's Disease 5 (1), 8, 2019
1082019
Genotype and phenotype in Parkinson's disease: lessons in heterogeneity from deep brain stimulation
A Angeli, NE Mencacci, R Duran, I Aviles‐Olmos, Z Kefalopoulou, ...
Movement Disorders 28 (10), 1370-1375, 2013
1012013
Deletions at 22q11. 2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data
KY Mok, U Sheerin, J Simón-Sánchez, A Salaka, L Chester, ...
The Lancet Neurology 15 (6), 585-596, 2016
952016
Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
RH Reynolds, J Botía, MA Nalls, J Hardy, SA Gagliano Taliun, M Ryten
npj Parkinson's Disease 5 (1), 6, 2019
932019
O sistema não pode executar a operação agora. Tente novamente mais tarde.
Artigos 1–20