Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease (2009)
Neumann, Juliane, Bras, Jose, Deas, Emma, O'Sullivan, Sean S., Parkkinen, Laura, Lachmann, Robin H., ...
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the most common lysosomal storage disorder. Parkinsonism is an established feature of Gaucher's disease and an...
Burrell, Christopher John, Booy, Robert, Wood, Nicholas W., Egan, Anne-Marie, Taverner, David, Williams, Ken, ...
Background The 2005 southern hemisphere formulation of the inactivated split-virion influenza vaccine Vaxigrip® unintentionally contained a lower concentration of haemagglutinin (HA) than European...
Burrell, Christopher John, Booy, Robert, Wood, Nicholas W., Egan, Anne-Marie, Taverner, David, Williams, Ken, ...
Background The 2005 southern hemisphere formulation of the inactivated split-virion influenza vaccine Vaxigrip® unintentionally contained a lower concentration of haemagglutinin (HA) than European...
The mitochondrial protese HtrA2 is regulated by Parkinson's disease-associated kinase PINK1 (2007)
Plun-Favreau, Helene, Klupsch, Kristina., Gandhi, Sonia, Kjaer, Svend, Frith, David, Harvey, Kirsten, ...
This is the authors' final draft of the version published as Nature Cell Biology, 2007, 9 (11), pp.1243-52. The final published version is available online at...
Large-scale pathways-based association study in amyotrophic lateral sclerosis (2007)
Kasperaviciute, Dalia, Weale, Mike E., Shianna, Kevin V., Banks, Gareth T., Simpson, Claire L., Hansen, Valerie K., ...
Sporadic amyotrophic lateral sclerosis (ALS), a devastating neurodegenerative disease, most likely results from complex genetic and environmental interactions. Although a number of association...
Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease (2007)
Heinzen, Erin L, Yoon, Woohyun, Weale, Michael E, Sen, Arjune, Wood, Nicholas W, Burke, James R, ...
Abstract Background Alternative gene transcript splicing permits a single gene to produce multiple proteins with varied functions. Bioinformatic investigations have identified numerous splice...
Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease (2007)
Heinzen, Erin L, Yoon, Woohyun, Weale, Michael E, Sen, Arjune, Wood, Nicholas W, Burke, James R, ...
Abstract Background Alternative gene transcript splicing permits a single gene to produce multiple proteins with varied functions. Bioinformatic investigations have identified numerous splice...
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy (2007)
Cavalleri, Gianpiero L., Walley, Nicole M., Soranzo, Nicole, Mulley, John Charles, Doherty, Colin P., Kapoor, Ashish, ...
The definitive version is available at www.blackwell-synergy.com
Cavalleri, Gianpiero L., Weale, Michael E., Shianna, Kevin V., Singh, Rinki, Lynch, John M., Grinton, B.E., ...
Copyright © 2007 Elsevier Ltd All rights reserved.
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy (2007)
Cavalleri, Gianpiero L., Walley, Nicole M., Soranzo, Nicole, Mulley, John Charles, Doherty, Colin P., Kapoor, Ashish, ...
The definitive version is available at www.blackwell-synergy.com
Cavalleri, Gianpiero L., Weale, Michael E., Shianna, Kevin V., Singh, Rinki, Lynch, John M., Grinton, B.E., ...
Copyright © 2007 Elsevier Ltd All rights reserved.
Khan, Naheed L., Jain, Shushant, Lynch, John M., Pavese, Nicola, Abou-Sleiman, Patrick, Holton, Janice L., ...
We have established that the frequency of LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%. In the largest family with autosomal dominant, late-onset Parkinson's...
Cavalleri, Gianpiero L., Lynch, John M., Depondt, Chantal, Burley, Mari-Wyn, Wood, Nicholas W., Sisodiya, Sanjay M., ...
Temporal lobe epilepsy (TLE), traditionally thought to develop largely due to environmental factors, has recently become the focus of association studies in an effort to determine genetic risk...
Molecular pathogenesis of Parkinson's disease (2005)
Gandhi, Sonia, Wood, Nicholas W.
Parkinson's disease (PD) is a common and incurable neurodegenerative disease, affecting 1% of the population over the age of 65. Despite a well-described clinical and pathological phenotype,...
Cavalleri, Gianpiero L., Lynch, John M., Depondt, Chantal, Burley, Mari-Wyn, Wood, Nicholas W., Sisodiya, Sanjay M., ...
Temporal lobe epilepsy (TLE), traditionally thought to develop largely due to environmental factors, has recently become the focus of association studies in an effort to determine genetic risk...
Khan, Naheed L., Jain, Shushant, Lynch, John M., Pavese, Nicola, Abou-Sleiman, Patrick, Holton, Janice L., ...
We have established that the frequency of LRRK2 mutations in a series of 118 cases of familial Parkinson's disease is 5.1%. In the largest family with autosomal dominant, late-onset Parkinson's...
Molecular pathogenesis of Parkinson's disease (2005)
Gandhi, Sonia, Wood, Nicholas W.
Parkinson's disease is a common and incurable neurodegenerative disease, affecting 1% of the population over the age of 65. Despite a well described clinical and pathological phenotype the molecular...
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease (2004)
Beck, Jonathan A, Poulter, Mark, Campbell, Tracy A, Uphill, James B, Adamson, Gary, Geddes, Jennian F, ...
Alzheimer's disease (AD) is the commonest neurodegenerative disease worldwide. Rare familial cases may be caused by mutations in one of three genes - amyloid precursor protein, presenilin 1 and...
The structure of the tau haplotype in controls and in progressive supranuclear palsy (2004)
Pittman, Alan, Myers, Amanda J., Duckworth, Jaime, Bryden, Leslie, Hanson, Melissa, Abou-Sleiman, Patrick, ...
The group of neurodegenerative diseases collectively known as tauopathies are characterised by hallmark lesions consisting of fibrillar aggregates of the microtubule associated protein, tau....
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia (2004)
Wilkinson, Philip A., Crosby, Andrew H., Turner, Christopher, Bradley, Lloyd J., Ginsberg, Lionel, Wood, Nicholas W., ...
Mutations in the SPG7 gene, encoding the mitochondrial protein paraplegin, were the first to be identified in autosomal recessive hereditary spastic paraplegia (ARHSP). Four different SPG7 mutations...
Scherfler, Christoph, Khan, Naheed L., Pavese, Nicola, Eunson, Louise, Graham, Elizabeth, Lees, Andrew J., ...
To investigate striatal and cortical pre- and postsynaptic dopaminergic function in parkin-linked parkinsonism, 13 unrelated patients homozygous or compound heterozygous for parkin mutations were...
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia (2004)
Wilkinson, Philip A., Crosby, Andrew H., Turner, Christopher, Bradley, Lloyd J., Ginsberg, Lionel, Wood, Nicholas W., ...
Mutations in the SPG7 gene, encoding the mitochondrial protein paraplegin, were the first to be identified in autosomal recessive hereditary spastic paraplegia (ARHSP). Four different SPG7 mutations...
Scherfler, Christoph, Khan, Naheed L., Pavese, Nicola, Eunson, Louise, Graham, Elizabeth, Lees, Andrew J., ...
To investigate striatal and cortical pre‐ and postsynaptic dopaminergic function in parkin‐linked parkinsonism, 13 unrelated patients homozygous or compound heterozygous for parkin...
Soranzo, Nicole, Cavalleri, Gianpiero L., Weale, Michael E., Wood, Nicholas W., Depondt, Chantal, Marguerie, Richard, ...
The difficulty of fine localizing the polymorphisms responsible for genotype-phenotype correlations is emerging as an important constraint in the implementation and interpretation of genetic...
Muqit, Miratul M.K., Davidson, Sean M., Payne Smith, Martin D., MacCormac, Luci P., Kahns, Soren, Jensen, Poul H., ...
Parkinson's disease (PD) is characterized by loss of dopamine neurons in the substantia nigra and the presence of cytoplasmic inclusions known as Lewy bodies (LBs). Mutations in parkin cause...
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease (2004)
Bandopadhyay, Rina, Kingsbury, Ann E., Cookson, Mark R., Reid, Andrew R., Evans, Ian M., Hope, Andrew D., ...
Two mutations in the DJ‐1 gene on chromosome1p36 have been identified recently to cause early‐onset, autosomal recessive Parkinson’s disease. As no information is available regarding the...
Soranzo, Nicole, Cavalleri, Gianpiero L., Weale, Michael E., Wood, Nicholas W., Depondt, Chantal, Marguerie, Richard, ...
The difficulty of fine localizing the polymorphisms responsible for genotype-phenotype correlations is emerging as an important constraint in the implementation and interpretation of genetic...
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease (2004)
Beck, Jonathan A, Poulter, Mark, Campbell, Tracy A, Uphill, James B, Adamson, Gary, Geddes, Jennian F, ...
Alzheimer's disease (AD) is the commonest neurodegenerative disease worldwide. Rare familial cases may be caused by mutations in one of three genes - amyloid precursor protein, presenilin 1 and...
The structure of the tau haplotype in controls and in progressive supranuclear palsy (2004)
Pittman, Alan, Myers, Amanda J., Duckworth, Jaime, Bryden, Leslie, Hanson, Melissa, Abou-Sleiman, Patrick, ...
The group of neurodegenerative diseases collectively known as tauopathies are characterised by hallmark lesions consisting of fibrillar aggregates of the microtubule associated protein, tau....
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia (2004)
Wilkinson, Philip A., Crosby, Andrew H., Turner, Christopher, Bradley, Lloyd J., Ginsberg, Lionel, Wood, Nicholas W., ...
Mutations in the SPG7 gene, encoding the mitochondrial protein paraplegin, were the first to be identified in autosomal recessive hereditary spastic paraplegia (ARHSP). Four different SPG7 mutations...
Scherfler, Christoph, Khan, Naheed L., Pavese, Nicola, Eunson, Louise, Graham, Elizabeth, Lees, Andrew J., ...
To investigate striatal and cortical pre- and postsynaptic dopaminergic function in parkin-linked parkinsonism, 13 unrelated patients homozygous or compound heterozygous for parkin mutations were...
Lee, Ming-Jen, Stephenson, Dennis A., Groves, Michael J., Sweeney, Mary G., Davis, Mary B., An, Shu-Fang, ...
A spontaneous autosomal recessive mutation was identified in the Sprague–Dawley rat strain with an early onset sensory neuropathy. The main clinical features of the mutation (mutilated foot,...
Parkin disease: a phenotypic study of a large case series (2003)
Khan, Naheed L., Graham, Elizabeth, Critchley, Peter, Schrag, Anette E, Wood, Nicholas W., Lees, Andrew J., ...
Mutations in the parkin gene, PARK2, are a common cause of parkinsonism in familial as well as isolated cases with an age of onset
Edwards, Mark J., Huang, Ying-Zu, Wood, Nicholas W., Rothwell, John C., Bhatia, Kailash P.
A mutation in the DYT1 gene on chromosome 9q34 causes early-onset primary torsion dystonia with autosomal dominant inheritance but low phenotypic penetrance. The aim of the present study was to...
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease (2003)
Bandopadhyay, Rina, Kingsbury, Ann E., Cookson, Mark R., Reid, Andrew R., Evans, Ian M., Hope, Andrew D., ...
Two mutations in the DJ-1 gene on chromosome1p36 have been identified recently to cause early-onset, autosomal recessive Parkinson’s disease. As no information is available regarding the...
Muqit, Miratul M.K., Davidson, Sean M., Payne-Smith, Martin D., MacCormac, Luci P., Kahns, Soren, Jensen, Poul H., ...
Parkinson's disease (PD) is characterised by loss of dopamine neurons in the substantia nigra and the presence of cytoplasmic inclusions known as Lewy bodies (LBs). Mutations in parkin cause...
Edwards, Mark J., Huang, Ying-Zu, Wood, Nicholas W., Rothwell, John C., Bhatia, Kailash P.
A mutation in the DYT1 gene on chromosome 9q34 causes early‐onset primary torsion dystonia with autosomal dominant inheritance but low phenotypic penetrance. The aim of the present study was to...
Parkin disease: a phenotypic study of a large case series (2003)
Khan, Naheed L., Graham, Elizabeth, Critchley, Peter, Schrag, Anette E, Wood, Nicholas W., Lees, Andrew J., ...
Mutations in the parkin gene, PARK2, are a common cause of parkinsonism in familial as well as isolated cases with an age of onset
Edwards, Mark J., Huang, Ying-Zu, Wood, Nicholas W., Rothwell, John C., Bhatia, Kailash P.
A mutation in the DYT1 gene on chromosome 9q34 causes early-onset primary torsion dystonia with autosomal dominant inheritance but low phenotypic penetrance. The aim of the present study was to...
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease (2003)
Bandopadhyay, Rina, Kingsbury, Ann E., Cookson, Mark R., Reid, Andrew R., Evans, Ian M., Hope, Andrew D., ...
Two mutations in the DJ-1 gene on chromosome1p36 have been identified recently to cause early-onset, autosomal recessive Parkinson’s disease. As no information is available regarding the...
Muqit, Miratul M.K., Davidson, Sean M., Payne-Smith, Martin D., MacCormac, Luci P., Kahns, Soren, Jensen, Poul H., ...
Parkinson's disease (PD) is characterised by loss of dopamine neurons in the substantia nigra and the presence of cytoplasmic inclusions known as Lewy bodies (LBs). Mutations in parkin cause...
Pang, Joanna T., Giunti, Paola, Chamberlain, Susan, An, Shu F., Vitaliani, Roberta, Scaravilli, Tomaso, ...
Spinocerebellar ataxia 2 (SCA2) belongs to the family of autosomal dominant cerebellar ataxias (ADCA), a genetically heterogeneous group of neurodegenerative diseases. The SCA2 gene maps to...
Khan, Naheed L., Brooks, David J., Pavese, Nicola, Sweeney, Mary G., Wood, Nicholas W., Lees, Andrew J., ...
Molecular and clinical characterization of parkin‐associated parkinsonism is well described; however, there are no data available on progression of dopamine terminal dysfunction in...
Clinical and genetic characterization of families with triple A (Allgrove) syndrome (2002)
Houlden, Henry, Smith, Stephen, De Carvalho, Mamede, Blake, Julian, Mathias, Christopher, Wood, Nicholas W., ...
Triple A (Allgrove) syndrome is characterized by achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. Affected individuals have between two and four of these relatively...
Sheen, Volney L., Dixon, Peter H., Fox, Jeremy W., Hong, Susan E., Kinton, Lucy, Sisodiya, Sanjay M., ...
Periventricular heterotopia (PH) is a human neuronal migration disorder in which many neurons destined for the cerebral cortex fail to migrate. Previous analysis showed heterozygous mutations in the...
Houlden, Henry, King, R. H. M., Wood, Nicholas W., Thomas, P. K., Reilly, Mary M.
Focally folded myelin has been recognized as a distinctive feature in some individuals with severe inherited demyelinating neuropathy, with an onset in childhood. Such cases have been shown to be...
Huntington's disease progression: PET and clinical observations (1999)
Andrews, Thomasin C., Weeks, Robert A., Turjanski, Nora, Gunn, Roger N., Watkins, Laura H. A., Sahakian, Barbara, ...
Using serial [11C]SCH 23390- and [11C]raclopride-PET, we have measured the rate of loss of striatal dopamine D1 and D2 receptor binding over a mean of 40 months in nine...
Soranzo, Nicole, Cavalleri, Gianpiero L., Weale, Michael E., Wood, Nicholas W., Depondt, Chantal, Marguerie, Richard, ...
The difficulty of fine localizing the polymorphisms responsible for genotype-phenotype correlations is emerging as an important constraint in the implementation and interpretation of genetic...
Tate, Sarah K., Depondt, Chantal, Sisodiya, Sanjay M., Cavalleri, Gianpiero L., Schorge, Stephanie, Soranzo, Nicole, ...
Phenytoin and carbamazepine are effective and inexpensive anti-epileptic drugs (AEDs). As with many AEDs, a broad range of doses is used, with the final “maintenance” dose normally determined by...
Soranzo, Nicole, Cavalleri, Gianpiero L., Weale, Michael E., Wood, Nicholas W., Depondt, Chantal, Marguerie, Richard, ...
The difficulty of fine localizing the polymorphisms responsible for genotype-phenotype correlations is emerging as an important constraint in the implementation and interpretation of genetic...
Tate, Sarah K., Depondt, Chantal, Sisodiya, Sanjay M., Cavalleri, Gianpiero L., Schorge, Stephanie, Soranzo, Nicole, ...
Phenytoin and carbamazepine are effective and inexpensive anti-epileptic drugs (AEDs). As with many AEDs, a broad range of doses is used, with the final “maintenance” dose normally determined by...
Weale, Mike E., Depondt, Chantal, Macdonald, Stuart J., Smith, Alice, Lai, Poh San, Shorvon, Simon D., ...
Association studies are widely seen as the most promising approach for finding polymorphisms that influence genetically complex traits, such as common diseases and responses to their treatment....
Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
Heinzen, Erin L, Yoon, Woohyun, Weale, Michael E, Sen, Arjune, Wood, Nicholas W, Burke, James R, ...
A novel microarray technology that permits the screening of alternative splice variants identifies disease-associated alternative splicing patterns in ion channel genes of patients with mesial...
Holton, Janice L., Ghiso, Jorge, Lashley, Tammaryn, Rostagno, Agueda, Guerin, Christopher J., Gibb, Graham, ...
Familial British dementia (FBD), pathologically characterized by cerebral amyloid angiopathy (CAA), amyloid plaques, and neurofibrillary degeneration, is associated with a stop codon mutation in the...
Heinzen, Erin L., Yoon, Woohyun, Tate, Sarah K., Sen, Arjune, Wood, Nicholas W., Sisodiya, Sanjay M., ...
An intronic polymorphism in the SCN1A gene, which encodes a neuronal sodium-channel α subunit, has been previously associated with the dosing of two commonly used antiepileptic drugs that elicit...
PINK1 Is Necessary for Long Term Survival and Mitochondrial Function in Human Dopaminergic Neurons
Wood-Kaczmar, Alison, Gandhi, Sonia, Yao, Zhi, Abramov, Andrey S. Y., Miljan, Erik A., Keen, Gregory, ...
Parkinson's disease (PD) is a common age-related neurodegenerative disease and it is critical to develop models which recapitulate the pathogenic process including the effect of the ageing process....
Wood-Kaczmar, Alison, Gandhi, Sonia, Yao, Zhi, Abramov, Andrey Y., Miljan, Erik A., Keen, Gregory, ...
Wood-Kaczmar, Alison, Gandhi, Sonia, Yao, Zhi, Abramov, Andrey Y., Miljan, Erik A., Keen, Gregory, ...
Gandhi, Sonia, Wood-Kaczmar, Alison, Yao, Zhi, Plun-Favreau, Helene, Deas, Emma, Klupsch, Kristina, ...
Mutations in PINK1 cause autosomal recessive Parkinson's disease. PINK1 is a mitochondrial kinase of unknown function. We investigated calcium homeostasis and mitochondrial function in...