Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Julie Phukan"'
Autor:
Russell Lewis McLaughlin, Julie Phukan, William McCormack, David S Lynch, Matthew Greenway, Simon Cronin, Jean Saunders, Agnieska Slowik, Barbara Tomik, Peter M Andersen, Daniel G Bradley, Phil Jakeman, Orla Hardiman
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e15402 (2010)
ObjectiveTo determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF.MethodsAllelic association statistics were calc
Externí odkaz:
https://doaj.org/article/e3048d6aaff64f5992df97bb9a6c23ad
Autor:
Hector, Garcia-Moreno, Hiva, Fassihi, Robert P E, Sarkany, Julie, Phukan, Thomas, Warner, Alan R, Lehmann, Paola, Giunti
Publikováno v:
Annals of Clinical and Translational Neurology
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntingto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6e686f342b6e44ec652e2c5821c0e3b1
https://pubmed.ncbi.nlm.nih.gov/29376097
https://pubmed.ncbi.nlm.nih.gov/29376097
Autor:
Caoimhe O'Brien, Niall Pender, Julie Phukan, Catherine Lynch, Norah Jordan, Laura Gallagher, Peter Bede, Brona Wynne, Orla Hardiman, Susan Byrne, Marwa Elamin
Publikováno v:
Neurology; Vol 80
Objective: To determine whether cognitive status in patients with amyotrophic lateral sclerosis (ALS) is a useful predictor of attrition and motor and cognitive decline. Methods: Cognitive testing was undertaken in a large population-based cohort of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c85f15539a878c456a8d2da714921b0
Autor:
Aleksey Shatunov, Norah Jordan, Peter Bede, Russell L. McLaughlin, Arun L.W. Bokde, Catherine Lynch, Cathal Walsh, Julie Phukan, Caoimhe O'Brien, Daniel G. Bradley, Ammar Al-Chalabi, Niall Pender, Kevin P. Kenna, Susan Byrne, Parameswaran M. Iyer, Orla Hardiman, Brona Wynne, Bernie Corr, Marwa Elamin, Mark Heverin
Publikováno v:
The Lancet Neurology; Vol 11
Summary Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) in about 14% of incident cases. We assessed the frequency of the recentl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e5c146662d583cc2efda9b34e8fe8ae
Publikováno v:
The Lancet Neurology. 10:1074-1085
The dystonias are a heterogeneous group of hyperkinetic movement disorders characterised by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Dystonia syndromes represent common movement disorders and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8ab6926d40b1a3e30ec26406e72298f
https://doi.org/10.1016/s1474-4422(11)70232-0
https://doi.org/10.1016/s1474-4422(11)70232-0
Autor:
Laura Gallagher, Orla Hardiman, Marwa Elamin, Niall Pender, Norah Jordan, Peter Bede, Susan Byrne, Julie Phukan, Catherine Lynch
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry; Vol 83
Background Despite considerable interest, the population-based frequency, clinical characteristics and natural history of cognitive impairment in amyotrophic lateral sclerosis (ALS) are not known. Methodology The authors undertook a prospective popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6588b80aec81ef1d111b86eae3639f9
https://doi.org/10.1136/jnnp-2011-300188
https://doi.org/10.1136/jnnp-2011-300188
Autor:
Norah Jordan, Susan Byrne, Peter Bede, Niall Pender, Orla Hardiman, Marwa Elamin, Julie Phukan
Publikováno v:
Neurology. 76:1263-1269
Background: The prognostic implications of cognitive impairment in amyotrophic lateral sclerosis (ALS) are not established. Objectives: To investigate the survival effect of the comorbid frontotemporal dementia (FTD) and to determine whether, in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::114e41b5677e46a8f11fc9878a3b8480
https://doi.org/10.1212/wnl.0b013e318214359f
https://doi.org/10.1212/wnl.0b013e318214359f
Publikováno v:
Amyotrophic Lateral Sclerosis. 11:143-149
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72493633931406b5944bd5f8a9bdaaaf
https://doi.org/10.3109/17482968.2010.519505
https://doi.org/10.3109/17482968.2010.519505
Autor:
Tom Solomon, Omar K. Siddiqi, Sam Nightingale, Julie Phukan, Michael Bonello, Benedict D Michael, John Williamson
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 88:A69.2-A69
Neurological disease is responsible for a huge burden of death and disability in sub-Saharan Africa. However, average number of Neurologists in these countries can be as low as 0.3/million. Consequently, most doctors will qualify from medical school
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::367ea9ee08346b45d7d882fa0cd42746
https://doi.org/10.1136/jnnp-2017-abn.239
https://doi.org/10.1136/jnnp-2017-abn.239
Autor:
Julie Phukan, Thomas Warner
Publikováno v:
Oxford Textbook of Movement Disorders ISBN: 0199609535
Primary forms of dystonia represent around 70 per cent of all cases and are described in Chapter 18. The remainder comprise those cases where dystonia is part of a more complex movement disorder or neurological syndrome. These can be divided into fou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a257ac9ba88b035f60eb9069870cd4af
https://doi.org/10.1093/med/9780199609536.003.0019
https://doi.org/10.1093/med/9780199609536.003.0019
