Systematic Review and UK‐Based Study of PARK2 (parkin), PINK1, PARK7 (DJ‐1) and LRRK2 in early‐onset Parkinson's disease
…, MH Marion, AJ Lewthwaite, DJ Nicholl… - Movement …, 2012 - Wiley Online Library
Approximately 3.6% of patients with Parkinson's disease develop symptoms before age 45.
Early‐onset Parkinson's disease (EOPD) patients have a higher familial recurrence risk than …
Early‐onset Parkinson's disease (EOPD) patients have a higher familial recurrence risk than …
Clinical neurology: why this still matters in the 21st century
DJ Nicholl, JP Appleton - Journal of Neurology, Neurosurgery & …, 2015 - jnnp.bmj.com
This review argues that even with the tremendous advances in diagnostic neuroimaging
that the clinical skills involved in clinical neurology (ie, history, examination, localisation and …
that the clinical skills involved in clinical neurology (ie, history, examination, localisation and …
Impact of a five-dimensional framework on R&D productivity at AstraZeneca
In 2011, AstraZeneca embarked on a major revision of its research and development (R&D)
strategy with the aim of improving R&D productivity, which was below industry averages in …
strategy with the aim of improving R&D productivity, which was below industry averages in …
Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes
…, C Tassorelli, A Tavella, R Marconi, DJ Nicholl… - Neurology, 2005 - AAN Enterprises
… DJ-1 mutations had been excluded suggests that the prevalence of PINK1 mutations is much
lower than that of parkin mutations. Mutations in the parkin and DJ… in which parkin and DJ-1 …
lower than that of parkin mutations. Mutations in the parkin and DJ… in which parkin and DJ-1 …
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
…, EC Ong, T Lehmann, DJ Nicholl… - Proceedings of the …, 2014 - National Acad Sciences
Signaling through the store-operated Ca 2+ release-activated Ca 2+ (CRAC) channel regulates
critical cellular functions, including gene expression, cell growth and differentiation, and …
critical cellular functions, including gene expression, cell growth and differentiation, and …
[HTML][HTML] LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study
…, M Onofrj, P Barone, DJ Nicholl… - The Lancet …, 2018 - thelancet.com
Background Most patients with Parkinson's disease, Parkinson's disease dementia, and
dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of …
dementia with Lewy bodies do not carry mutations in known disease-causing genes. The aim of …
[HTML][HTML] 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
Amyloid precursor protein gene (APP) duplications have been identified in screens of
selected probands with early onset familial Alzheimer's disease (FAD). A causal role for copy …
selected probands with early onset familial Alzheimer's disease (FAD). A causal role for copy …
Malate dehydrogenase: a model for structure, evolution, and catalysis
CR Goward, DJ Nicholls - Protein Science, 1994 - Wiley Online Library
Malate dehydrogenases are widely distributed and alignment of the amino acid sequences
show that the enzyme has diverged into 2 main phylogenetic groups. Multiple amino acid …
show that the enzyme has diverged into 2 main phylogenetic groups. Multiple amino acid …
Anchored plasticity opens doors for selective inhibitor design in nitric oxide synthase
…, PJ Hamley, PR Mallinder, DJ Nicholls… - Nature chemical …, 2008 - nature.com
Nitric oxide synthase (NOS) enzymes synthesize nitric oxide, a signal for vasodilatation and
neurotransmission at low concentrations and a defensive cytotoxin at higher concentrations. …
neurotransmission at low concentrations and a defensive cytotoxin at higher concentrations. …
A study of five candidate genes in Parkinson's disease and related neurodegenerative disorders
DJ Nicholl, P Bennett, L Hiller, V Bonifati, N Vanacore… - Neurology, 1999 - AAN Enterprises
Objective: To determine whether reported genetic association of polymorphisms in the
CYP2D6, CYP1A1, N-acetyltransferase 2 (NAT2), DAT1, and glutathione s-transferase M1 (…
CYP2D6, CYP1A1, N-acetyltransferase 2 (NAT2), DAT1, and glutathione s-transferase M1 (…