Browse by UCL people
Group by: Type | Date
Number of items: 22.
2017
Carecchio, M;
Mencacci, NE;
(2017)
Emerging Monogenic Complex Hyperkinetic Disorders.
Current Neurology and Neuroscience Reports
, 17
(12)
, Article 97. 10.1007/s11910-017-0806-2.
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Carecchio, M;
Mencacci, NE;
Iodice, A;
Pons, R;
Panteghini, C;
Zorzi, G;
Zibordi, F;
... Nardocci, N; + view all
(2017)
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
PARKINSONISM & RELATED DISORDERS
, 41
pp. 37-43.
10.1016/j.parkreldis.2017.05.004.
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Meyer, E;
Carss, KJ;
Rankin, J;
Nichols, JM;
Grozeva, D;
Joseph, AP;
Mencacci, NE;
... Kurian, MA; + view all
(2017)
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Nature Genetics
, 49
(2)
pp. 223-237.
10.1038/ng.3740.
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Noyce, AJ;
R'Bibo, L;
Peress, L;
Bestwick, JP;
Adams-Carr, KL;
Mencacci, NE;
Hawkes, CH;
... Schrag, A; + view all
(2017)
PREDICT-PD: An online approach to prospectively identify risk indicators of Parkinson's disease.
Movement Disorders
, 32
(2)
pp. 219-226.
10.1002/mds.26898.
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2016
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Celardo, I;
Costa, AC;
Lehmann, S;
Jones, C;
Wood, N;
Mencacci, NE;
Mallucci, GR;
... Martins, LM; + view all
(2016)
Mitofusin-mediated ER stress triggers neurodegeneration in pink1/parkin models of Parkinson's disease.
Cell Death and Disease
, 7
, Article e2271. 10.1038/cddis.2016.173.
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Charlesworth, G;
Balint, B;
Mencacci, NE;
Carr, L;
Wood, NW;
Bhatia, KP;
(2016)
SLC25A46 Mutations Underlie Progressive Myoclonic Ataxia With Optic Atrophy and Neuropathy.
Movement Disorders
, 31
(8)
pp. 1249-1251.
10.1002/mds.26716.
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Mencacci, NE;
(2016)
Dissecting the Genetic Basis of Parkinson Disease, Dystonia and Chorea.
Doctoral thesis , UCL (University College London).
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Mencacci, NE;
Kamsteeg, EJ;
Nakashima, K;
R'Bibo, L;
Lynch, DS;
Balint, B;
Willemsen, MA;
... Bhatia, KP; + view all
(2016)
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
The American Journal of Human Genetics
, 98
(4)
pp. 763-771.
10.1016/j.ajhg.2016.02.015.
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Mok, KY;
Sheerin, U;
Simón-Sánchez, J;
Salaka, A;
Chester, L;
Escott-Price, V;
Mantripragada, K;
... Wood, NW; + view all
(2016)
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.
Lancet Neurology
, 15
(6)
pp. 585-596.
10.1016/S1474-4422(16)00071-5.
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Morgan, JC;
Kurek, JA;
Davis, J;
Sethi, KD;
Mencacci, NE;
Erro, R;
Bhatia, KP;
(2016)
ADCY5 mutations are another cause of benign hereditary chorea.
Neurology
, 86
(10)
pp. 978-979.
10.1212/WNL.0000000000002479.
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Sailer, A;
Scholz, SW;
Nalls, MA;
Schulte, C;
Federoff, M;
Price, TR;
Lees, A;
... European Multiple System Atrophy Study Group and the UK Multiple; + view all
(2016)
A genome-wide association study in multiple system atrophy.
Neurology
, 87
(15)
pp. 1591-1598.
10.1212/WNL.0000000000003221.
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2015
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Mencacci, NE;
Erro, R;
Wiethoff, S;
Hersheson, J;
Ryten, M;
Balint, B;
Ganos, C;
... Bhatia, KP; + view all
(2015)
ADCY5 mutations are another cause of benign hereditary chorea.
Neurology
, 85
(1)
pp. 80-88.
10.1212/WNL.0000000000001720.
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Mencacci, NE;
Pittman, AM;
Isaias, IU;
Hardy, J;
Klebe, S;
Bhatia, KP;
Wood, NW;
(2015)
Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
[Review].
Brain
, 138
(5)
e352-e352.
10.1093/brain/awu309.
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Mencacci, NE;
R'bibo, L;
Bandres-Ciga, S;
Carecchio, M;
Zorzi, G;
Nardocci, N;
Garavaglia, B;
... Wood, NW; + view all
(2015)
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Human Molecular Genetics
, 24
(18)
pp. 5326-5329.
10.1093/hmg/ddv255.
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Mencacci, NE;
Rubio-Agusti, I;
Zdebik, A;
Asmus, F;
Ludtmann, MH;
Ryten, M;
Plagnol, V;
... Wood, NW; + view all
(2015)
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Am J Hum Genet
, 96
(6)
pp. 938-947.
10.1016/j.ajhg.2015.04.008.
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Noyce, AJ;
Mencacci, NE;
Schrag, A;
Bestwick, JP;
Giovannoni, G;
Lees, AJ;
Hardy, J;
(2015)
Web-based assessment of Parkinson's prodromal markers identifies GBA variants.
Mov Disord
, 30
(7)
pp. 1002-1003.
10.1002/mds.26249.
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2014
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Macerollo, A;
Mencacci, NE;
Erro, R;
Cordivari, C;
Edwards, MJ;
Wood, NW;
Bhatia, KP;
(2014)
Screening of mutations in NOL3 in a myoclonic syndromes series.
J Neurol
, 261
(9)
pp. 1830-1831.
10.1007/s00415-014-7463-z.
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Mencacci, NE;
Isaias, IU;
Reich, MM;
Ganos, C;
Plagnol, V;
Polke, JM;
Bras, J;
... on behalf of the International Parkinson’s Disease Genomics Cons; + view all
(2014)
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
Brain
, 137
(9)
pp. 2480-2492.
10.1093/brain/awu179.
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2013
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Angeli, A;
Mencacci, NE;
Duran, R;
Aviles-Olmos, I;
Kefalopoulou, Z;
Candelario, J;
Rusbridge, S;
... Foltynie, T; + view all
(2013)
Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation.
Movement Disorders
, 28
(10)
pp. 1370-1375.
10.1002/mds.25535.
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Batla, A;
Stamelou, M;
Mencacci, N;
Schapira, AH;
Bhatia, KP;
(2013)
Ropinirole monotherapy induced severe reversible dyskinesias in Parkinson's disease.
Mov Disord
, 28
(8)
1159 - 1160.
10.1002/mds.25318.
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Duran, R;
Mencacci, NE;
Angeli, AV;
Shoai, M;
Deas, E;
Houlden, H;
Mehta, A;
... Foltynie, T; + view all
(2013)
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.
Movement Disorders
, 28
(2)
232 - 236.
10.1002/mds.25248.
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McNeill, A;
Wu, RM;
Tzen, KY;
Aguiar, PC;
Arbelo, JM;
Barone, P;
Bhatia, K;
... Schapira, AH; + view all
(2013)
Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis.
PLOS ONE
, 8
(7)
, Article e69190. 10.1371/journal.pone.0069190.
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