Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Emily F. Goodall"'
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:
Pamela J. Shaw, Joanna J. Bury, Johnathan Cooper-Knock, Adrian Higginbottom, Janine Kirby, Christopher J McDermott, Paul G. Ince, Emily F. Goodall, J. Robin Highley
Publikováno v:
Neuropathology. 36:125-134
Amyotrophic lateral sclerosis (ALS) is characterized by motor neurone loss resulting in muscle weakness, spasticity and ultimately death. 5-10% are caused by inherited mutations, most commonly C9ORF72, SOD1, TARDBP and FUS. Rarer genetic causes of AL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a763dc0698ab3f2ad1da0ed4e8bbad87
https://doi.org/10.1111/neup.12240
https://doi.org/10.1111/neup.12240
Autor:
Emily F. Goodall, Thais Minett, Pamela J. Shaw, Julie E. Simpson, Claire J. Garwood, Fiona E. Matthews, Paul G. Ince, Magnus Rattray, Carol Brayne, Laura E. Ratcliffe, Paul R. Heath, Stephen B. Wharton
Publikováno v:
Neuropathology and Applied Neurobiology. 42:167-179
Aims Oxidative damage and an associated DNA damage response (DDR) are evident in mild cognitive impairment and early Alzheimer's disease, suggesting that neuronal dysfunction resulting from oxidative DNA damage may account for some of the cognitive i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4978a000339f0c4a31f15e3f95c7e82
https://doi.org/10.1111/nan.12252
https://doi.org/10.1111/nan.12252
Autor:
Marc Da Costa, Paul R. Heath, Janine Kirby, Esther Hobson, Rachel Waller, Jonathan Cooper-Knock, Pamela J. Shaw, Emily F. Goodall, Helen Wollff, Marta Milo, Mbombe Kazoka
Publikováno v:
Neurobiology of Aging
Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative condition characterized by loss of motor neurones and progressive muscle wasting. There is no diagnostic test for ALS therefore robust biomarkers would not only be valuable for diagnos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8182e0186c5372d5b912d78ac97852bc
https://eprints.whiterose.ac.uk/114313/16/1-s2.0-S0197458017301033-main.pdf
https://eprints.whiterose.ac.uk/114313/16/1-s2.0-S0197458017301033-main.pdf
Autor:
Paul R. Heath, Julie E. Simpson, David Baker, Ignacio A. Romero, David Drew, Johnathan Cooper-Knock, Stephen B. Wharton, Chunfang Wang, Vicki Leach, Emily F. Goodall, M. Jill Saffrey
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 12, p 3097 (2019)
International Journal of Molecular Sciences
Volume 20
Issue 12
International Journal of Molecular Sciences
Volume 20
Issue 12
Functional and structural age-associated changes in the blood-brain barrier (BBB) may affect the neurovascular unit and contribute to the onset and progression of age-associated neurodegenerative pathologies, including Alzheimer&rsquo
s disease.
s disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5765ecaca5bd8365b7d3095869d758
https://doi.org/10.3390/ijms20123097
https://doi.org/10.3390/ijms20123097
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:
Sian Price, Ian Scott, Cris S. Constantinescu, Janine Kirby, Emily F. Goodall, Johnathan Cooper-Knock, Pamela J. Shaw, J. Robin Highley, James Lowe, Basil Sharrack, D Alastair S Compston, Antonio Milano, Stephen J Walters, Christopher J McDermott, Azza Ismail, Stephen Sawcer
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 84:79-87
Background Crossover in the pathogenic mechanisms of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) has been described but is poorly understood. A GGGGCC hexanucleotide repeat expansion of C9ORF72 has recently been identified in a si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af53c38997b1aa8a3aea693528c02564
https://doi.org/10.1136/jnnp-2012-303326
https://doi.org/10.1136/jnnp-2012-303326
Autor:
Michael Sendtner, Christopher A Plaster, Michael E. Weale, Elizabeth M. C. Fisher, Karen E. Morrison, Marcus Beck, Neil Bradman, Hardev Pall, Catherine J. E. Ingram, Emily F. Goodall, Dalia Kasperavičiūtė, Sibylle Jablonka
Publikováno v:
Amyotrophic Lateral Sclerosis. 13:341-346
While some cases of familial ALS can be entirely attributed to known inherited variation, the majority (∼ 90%) are sporadic, where the cause(s) are not entirely understood. Both genetic and environmental factors may contribute to susceptibility. Mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b554e11e401a58324f40cdf64ab3ee
https://doi.org/10.3109/17482968.2012.654394
https://doi.org/10.3109/17482968.2012.654394
Autor:
Judith Hartley, J. Robin Highley, Christopher J McDermott, Janine Kirby, Pamela J. Shaw, Karen E. Morrison, Hannah Hollinger, Rudo Masanzu, Emily F. Goodall, Rachel Hibberd, W. Smith, Paul G. Ince, Stephen B. Wharton
Publikováno v:
neurogenetics. 11:217-225
The finding of TDP-43 as a major component of ubiquitinated protein inclusions in amyotrophic lateral sclerosis (ALS) has led to the identification of 30 mutations in the transactive response-DNA binding protein (TARDBP) gene, encoding TDP-43. All bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c33438a98654261d7a813a2680cde5f3
https://doi.org/10.1007/s10048-009-0218-9
https://doi.org/10.1007/s10048-009-0218-9
Autor:
Joanna J, Bury, J Robin, Highley, Johnathan, Cooper-Knock, Emily F, Goodall, Adrian, Higginbottom, Christopher J, McDermott, Paul G, Ince, Pamela J, Shaw, Janine, Kirby
Publikováno v:
Neuropathology : official journal of the Japanese Society of Neuropathology. 36(2)
Amyotrophic lateral sclerosis (ALS) is characterized by motor neurone loss resulting in muscle weakness, spasticity and ultimately death. 5-10% are caused by inherited mutations, most commonly C9ORF72, SOD1, TARDBP and FUS. Rarer genetic causes of AL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38df1597f87d8df5ee2946f1f1293d62
https://pubmed.ncbi.nlm.nih.gov/26303227
https://pubmed.ncbi.nlm.nih.gov/26303227