Articles with public access mandates - Niccolò Emanuele MencacciLearn more
Not available anywhere: 7
Review
H‐ABC syndrome and DYT4: variable expressivity or pleiotropy of TUBB4 mutations?
R Erro, J Hersheson, C Ganos, NE Mencacci, M Stamelou, A Batla, ...
Movement Disorders 30 (6), 828-833, 2015
Mandates: German Research Foundation, UK Medical Research Council, Parkinson's UK …
Review
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology
F Niccolini, NE Mencacci, T Yousaf, EA Rabiner, V Salpietro, G Pagano, ...
movement disorders 33 (12), 1961-1965, 2018
Mandates: National Institute for Health Research, UK, Parkinson's UK, Wellcome Trust
Review
Genetic dystonias: update on classification and new genetic discoveries
IJ Keller Sarmiento, NE Mencacci
Current neurology and neuroscience reports 21, 1-12, 2021
Mandates: Parkinson's Foundation, USA
Review
Emerging and converging molecular mechanisms in dystonia
P Gonzalez-Latapi, N Marotta, NE Mencacci
Journal of Neural Transmission 128 (4), 483-498, 2021
Mandates: Parkinson's Foundation, USA
Review
Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease
IJK Sarmiento, M Afshari, L Kinsley, V Silani, RS Akhtar, T Simuni, ...
Parkinsonism & Related Disorders 104, 88-90, 2022
Mandates: Government of Italy, Parkinson's Foundation, USA
Review
International genetic testing and counseling practices for Parkinson's disease
R Saunders‐Pullman, D Raymond, RA Ortega, A Shalash, E Gatto, ...
Movement Disorders 38 (8), 1527-1535, 2023
Mandates: US National Institutes of Health, National Health and Medical Research …
Review
Novel THAP1 missense variant with incomplete penetrance in a case of generalized young onset dystonia showing good response to deep brain stimulation
IJK Sarmiento, A Fraint, L Kinsley, RS Akhtar, V Silani, SJ Lubbe, D Krainc, ...
Parkinsonism & Related Disorders 105, 7-8, 2022
Mandates: Government of Italy, Parkinson's Foundation, USA
Available somewhere: 74
Review
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
Mandates: US National Institutes of Health, UK Medical Research Council, Parkinson's …
Review
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
Mandates: UK Medical Research Council, Parkinson's UK, Wellcome Trust
Review
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
Mandates: Parkinson's UK
Review
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
Mandates: US National Institutes of Health, UK Medical Research Council, National …
Review
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
Mandates: US National Institutes of Health, German Research Foundation, UK Medical …
Review
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
Mandates: US National Institutes of Health, National Natural Science Foundation of …
Review
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
Mandates: UK Medical Research Council, Parkinson's UK, Wellcome Trust
Review
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
Mandates: UK Medical Research Council
Review
Parkin disease: a clinicopathologic entity?
KM Doherty, L Silveira-Moriyama, L Parkkinen, DG Healy, M Farrell, ...
JAMA neurology 70 (5), 571-579, 2013
Mandates: UK Medical Research Council, Parkinson's UK, Wellcome Trust
Review
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
Mandates: US National Institutes of Health, Fondazione Telethon, Italy, UK Medical …
Review
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
Mandates: Parkinson's UK
Review
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
Mandates: UK Medical Research Council, Parkinson's UK, Wellcome Trust, Government of Spain
Review
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
Mandates: US Department of Defense, US National Institutes of Health, German Research …
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