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| 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 | 150 | 2013 |
| 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 | 136 | 2015 |
| 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 | 123 | 2018 |
| 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 | 120 | 2016 |
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Kailash BhatiaProfessor of Clinical Neurology, Institute of Neurology, UCL, Queen Square, London WC1N 3BG,Verified email at ucl.ac.uk
