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David Nicholl
David Nicholl
Consultant Neurologist, City Hospital, Birmingham B18 7QH
Geverifieerd e-mailadres voor blueyonder.co.uk
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Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
C Paisán-Ruı́z, S Jain, EW Evans, WP Gilks, J Simón, M Van Der Brug, ...
Neuron 44 (4), 595-600, 2004
27682004
Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
CB Lücking, A Dürr, V Bonifati, J Vaughan, G De Michele, T Gasser, ...
New England Journal of Medicine 342 (21), 1560-1567, 2000
18742000
Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes
V Bonifati, CF Rohe, GJ Breedveld, E Fabrizio, M De Mari, C Tassorelli, ...
Neurology 65 (1), 87-95, 2005
4182005
A genetic study of Wilson’s disease in the United Kingdom
AJ Coffey, M Durkie, S Hague, K McLay, J Emmerson, C Lo, S Klaffke, ...
Brain 136 (5), 1476-1487, 2013
3952013
How much phenotypic variation can be attributed to parkin genotype?
E Lohmann, M Periquet, V Bonifati, NW Wood, G De Michele, AM Bonnet, ...
Annals of neurology 54 (2), 176-185, 2003
3852003
Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data
NL Khan, S Jain, JM Lynch, N Pavese, P Abou-Sleiman, JL Holton, ...
Brain 128 (12), 2786-2796, 2005
3752005
Parkin mutations are frequent in patients with isolated early‐onset parkinsonism
M Periquet, M Latouche, E Lohmann, N Rawal, G De Michele, S Ricard, ...
Brain 126 (6), 1271-1278, 2003
3652003
Complex relationship between Parkin mutations and Parkinson disease
A West, M Periquet, S Lincoln, CB Lücking, D Nicholl, V Bonifati, N Rawal, ...
American journal of medical genetics 114 (5), 584-591, 2002
2732002
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
V Nesin, G Wiley, M Kousi, EC Ong, T Lehmann, DJ Nicholl, M Suri, ...
Proceedings of the National Academy of Sciences 111 (11), 4197-4202, 2014
2552014
Systematic Review and UK‐Based Study of PARK2 (parkin), PINK1, PARK7 (DJ‐1) and LRRK2 in early‐onset Parkinson's disease
LL Kilarski, JP Pearson, V Newsway, E Majounie, MDW Knipe, ...
Movement Disorders 27 (12), 1522-1529, 2012
2102012
Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family
K Gwinn-Hardy, A Singleton, P O'Suilleabhain, M Boss, D Nicholl, A Adam, ...
Archives of neurology 58 (2), 296-299, 2001
1842001
Bis-choline tetrathiomolybdate in patients with Wilson's disease: an open-label, multicentre, phase 2 study
KH Weiss, FK Askari, A Czlonkowska, P Ferenci, JM Bronstein, D Bega, ...
The Lancet Gastroenterology & Hepatology 2 (12), 869-876, 2017
1472017
A study of five candidate genes in Parkinson’s disease and related neurodegenerative disorders
DJ Nicholl, P Bennett, L Hiller, V Bonifati, N Vanacore, G Fabbrini, ...
Neurology 53 (7), 1415-1415, 1999
1431999
No Association between Parkinson's Disease and Low-Activity Alleles of CatecholO-Methyltransferase
F Hoda, D Nicholl, P Bennett, M Arranz, KJ Aitchison, A Al-Chalabi, ...
Biochemical and biophysical research communications 228 (3), 780-784, 1996
1261996
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
M Quadri, W Mandemakers, MM Grochowska, R Masius, H Geut, ...
The Lancet Neurology 17 (7), 597-608, 2018
1252018
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
D McNaughton, W Knight, R Guerreiro, N Ryan, J Lowe, M Poulter, ...
Neurobiology of aging 33 (2), 426. e13-426. e21, 2012
1102012
Clinical neurology: why this still matters in the 21st century
DJ Nicholl, JP Appleton
Journal of Neurology, Neurosurgery & Psychiatry 86 (2), 229-233, 2015
1012015
Epidemiology of multiple system atrophy
N Vanacore, V Bonifati, G Fabbrini, C Colosimo, G De Michele, R Marconi, ...
Neurological sciences 22, 97-99, 2001
902001
Direct genetic evidence for involvement of tau in progressive supranuclear palsy
P Bennett, V Bonifati, U Bonuccelli, C Colosimo, M De Mari, G Fabbrini, ...
Neurology 51 (4), 982-985, 1998
891998
An English kindred with a novel recessive tauopathy and respiratory failure
DJ Nicholl, MA Greenstone, CE Clarke, P Rizzu, D Crooks, A Crowe, ...
Annals of Neurology: Official Journal of the American Neurological …, 2003
872003
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