Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Laura E. Cox"'
Autor:
Laura E Cox, Laura Ferraiuolo, Emily F Goodall, Paul R Heath, Adrian Higginbottom, Heather Mortiboys, Hannah C Hollinger, Judith A Hartley, Alice Brockington, Christine E Burness, Karen E Morrison, Stephen B Wharton, Andrew J Grierson, Paul G Ince, Janine Kirby, Pamela J Shaw
Publikováno v:
PLoS ONE, Vol 5, Iss 3, p e9872 (2010)
Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3-10% of patients. A mutation in CHMP2B was recently identified in a Danish pedigree with autosomal dominant FTD.
Externí odkaz:
https://doaj.org/article/4a8beca478514daf9247cbd8aaff1cab
Autor:
Paul G. Ince, Janine Kirby, J. R. Highley, Christopher J McDermott, Emily F. Goodall, Christopher J. Hewitt, Laura E. Cox, M. Fox, Hannah Hollinger, Pamela J. Shaw, Judith Hartley
Publikováno v:
Neuropathology and Applied Neurobiology. 39:562-571
Aims: Five to 10% of cases of amyotrophic lateral sclerosis are familial, with the most common genetic causes being mutations in the C9ORF72,SOD1,TARDBP and FUS genes. Mutations in the angiogenin gene, ANG, have been identified in both familial and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25142d05da7c1747af57b69981356cc6
https://doi.org/10.1111/nan.12007
https://doi.org/10.1111/nan.12007
Autor:
Channa Hewamadduma, Dasappaiah Ganesh Rao, J. Kirby, Patrick F. Chinnery, Basil Sharrack, Laura E. Cox, Christopher J McDermott, Christine Burness, Pamela J. Shaw, Ann Dalton, Marios Hadjivassiliou
Publikováno v:
Neurology. 67:45-51
Background: Mutations in the spastin gene are the commonest cause of hereditary spastic paraparesis (HSP), accounting for up to 40% of autosomal dominant cases. The phenotype associated with HSP due to mutation in the spastin gene ( SPG4 ) tends to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdec6972ead1c52608d0dcf934f17981
https://doi.org/10.1212/01.wnl.0000223315.62404.00
https://doi.org/10.1212/01.wnl.0000223315.62404.00
Autor:
Jean-Pierre Allain, Laura E. Cox
Publikováno v:
Current opinion in hematology. 18(6)
The availability of hepatitis B virus (HBV) nucleic acid testing (NAT) for donor blood screening led to its implementation in low prevalence and high prevalence countries. Genomic detection was a substantial addition to HBV surface protein (HBsAg) sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd2d1fe7d6d3299889033fc7cee1a48b
https://pubmed.ncbi.nlm.nih.gov/21912252
https://pubmed.ncbi.nlm.nih.gov/21912252
Autor:
Christine Burness, Alice Brockington, Pamela J. Shaw, Laura Ferraiuolo, Paul R. Heath, Stephen B. Wharton, Judith Hartley, Emily F. Goodall, Adrian Higginbottom, Laura E. Cox, Andrew J. Grierson, Karen E. Morrison, Heather Mortiboys, Paul G. Ince, Hannah Hollinger, Janine Kirby
Publikováno v:
PLoS ONE, Vol 5, Iss 3, p e9872 (2010)
PLoS ONE
PLoS ONE
Background: Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3-10% of patients. A mutation in CHMP2B was recently identified in a Danish pedigree with autosomal d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0424733b01c49053fab68536e0fde6e0
http://europepmc.org/articles/PMC2844426?pdf=render
http://europepmc.org/articles/PMC2844426?pdf=render