Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Victoria Elizabeth Newsway"'
Autor:
Carl E Clarke, Jonathan R. Evans, Anjum Misbahuddin, Victoria Elizabeth Newsway, Huw R. Morris, Caroline H. Williams-Gray, Karen E. Morrison, Elisa Majounie, M. Duleeka W Knipe, Marie-Helene Marion, Nicholas W. Wood, M M Wickremaratchi, David Nicholl, Roger A. Barker, Nigel Williams, David J. Burn, Yoav Ben-Shlomo, Stephen Sawcer, Laura L. Kilarski, J. P. Pearson, Patrick F. Chinnery, Alistair J. Lewthwaite
Publikováno v:
Movement Disorders. 27:1522-1529
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 late-onset patients, and 3 main recessive EOPD genes have been describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ec060dda2f07bb0e21d26eaaef3faec
https://doi.org/10.1002/mds.25132
https://doi.org/10.1002/mds.25132
Autor:
Jason D. Warren, Melissa Anne Hack, Victoria Elizabeth Newsway, Huw R. Morris, Nigel Williams, Elisa Majounie, Jonathan D. Rohrer, Mark Fish
Publikováno v:
Movement Disorders. 25:767-770
Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a serie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::354a86282b2bb37baa1ec38fc771426e
https://doi.org/10.1002/mds.22950
https://doi.org/10.1002/mds.22950
Autor:
Michael Krawczak, Martin Horan, T Easter, Elizabeth Crowne, John Gregory, John A. Phillips, Phillip Edwards, Linda Fryklund, David Neil Cooper, Victoria Elizabeth Newsway, Annie M. Procter, Sally J. Davies, M. D. Lewis, Martin Norin, Kim Waldron, Jeremy Kirk, Patricia J. Smith, David Stuart Millar, Maurice F. Scanlon
Publikováno v:
Human Mutation. 21:424-440
Subtle mutations in the growth hormone 1 (GH1) gene have been regarded as a comparatively rare cause of short stature. Such lesions were sought in a group of 41 individuals selected for short stature, reduced height velocity, and bone age delay; a gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d677d1369fd8e9b74b79c79579b7548
https://doi.org/10.1002/humu.10168
https://doi.org/10.1002/humu.10168
Autor:
Jennifer Stott, Dena G. Hernandez, Alexandra Murray, Rita Guerreiro, Victoria Elizabeth Newsway, Huw R. Morris, J. P. Pearson, Elisa Majounie, Andrew B. Singleton, James Neal, Nigel Williams, Adrian James Waite
Publikováno v:
Journal of neurology. 258(4)
Families with autosomal dominant frontotemporal dementia and amyotrophic lateral sclerosis (FTD/ALS) have previously been linked to a locus on chromosome 9p21. We describe the clinical phenotype and pathology of a large family with autosomal dominant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbda7fdc804d8016d1373ebc33451063
https://pubmed.ncbi.nlm.nih.gov/21072532
https://pubmed.ncbi.nlm.nih.gov/21072532
Autor:
Victoria Elizabeth Newsway, Werner Schempp, Young-Ho Lee, David Neil Cooper, Amke Caliebe, Michael Krawczak, Jörg Schmidtke, Dorothea Kumpf, I.S. Chee, Nadia Chuzhanova, Guglielmina Pepe, David Stuart Millar, Apiwat Mutirangura, Hildegard Kehrer-Sawatzki, Martin Horan, Olga Rickards, Andreas Wolf, Katharina Steinmann
Publikováno v:
Human mutation. 30(2)
To assess the evolutionary importance of nonallelic (or interlocus) gene conversion for the highly polymorphic human growth hormone (GH1) gene promoter, sequence variation in this region was studied in four different ethnic groups. For 14 SNPs in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9a5b53f2a87fde2a6a318a1fe65a21
https://pubmed.ncbi.nlm.nih.gov/18800374
https://pubmed.ncbi.nlm.nih.gov/18800374
Autor:
Christopher Morris, Rohan de Silva, Mike A. Nalls, Michael John Owen, Michael Conlon O'Donovan, Elisa Majounie, Victoria Elizabeth Newsway, Jana Vandrovcova, Allissa Dillman, Huw R. Morris, William Cross, Luigi Ferrucci, Andrew B. Singleton, Mark R. Cookson
Publikováno v:
Neurobiology of Aging. 34:1922.e7-1922.e12
Progressive supranuclear palsy (PSP) is the most common atypical parkinsonian disorder. Abnormal tau inclusions, in selected regions of the brain, are a hallmark of the disease and the H1 haplotype of MAPT, the gene encoding tau, is the major risk fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::85de703ff754d16af72032ed1f1b39a0
https://doi.org/10.1016/j.neurobiolaging.2013.01.017
https://doi.org/10.1016/j.neurobiolaging.2013.01.017
Autor:
Victoria Elizabeth Newsway, Yoav Ben-Shlomo, M M Wickremaratchi, Nigel Williams, J. P. Pearson, Laura L. Kilarski, Huw R. Morris, M D W Knipe
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:e1.148-e1
In approximately 3.6% of patients with Parkinson9s disease symptoms start before the age of 45 (early onset Parkinson9s disease—EOPD). EOPD patients have a high familial recurrence risk and there are three main autosomal recessive EOPD genes. Our a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b938dffe8547ad16e4ecc3522b21312e
https://doi.org/10.1136/jnnp-2011-301993.30
https://doi.org/10.1136/jnnp-2011-301993.30