Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Michael D. Alexander"'
Publikováno v:
Journal of Surgical Research. 268:145-157
Background Minimum rest is mandated in high stake industries such as aviation. The current system of healthcare provision permits on-call surgeons to work in sleep deprived states when performing procedures. Fatigue has been demonstrated to negativel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ea6d113399be6799b3b81e4b77ffe4a
https://doi.org/10.1016/j.jss.2021.06.047
https://doi.org/10.1016/j.jss.2021.06.047
Autor:
Helena Maria Plapp, John C. McHugh, Anne Early, Sharon Moran, Sinéad M. Murphy, Timothy Lynch, Michael D Alexander, Richard A. Walsh, Ciara Gorman, Lorraine Cassidy, Hongying Chen, Petya Bogdanova-Mihaylova
Publikováno v:
Journal of Neurology. 268:3897-3907
Mutations in SPG7 are increasingly identified as a common cause of spastic ataxia. We describe a cohort of Irish patients with recessive SPG7-associated phenotype. Comprehensive phenotyping was performed with documentation of clinical, neurophysiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::219dcd1cdf9c59cc5f03b0dd0c14bb25
https://doi.org/10.1007/s00415-021-10507-8
https://doi.org/10.1007/s00415-021-10507-8
Autor:
Ronan Walsh, Sinéad M. Murphy, John Craig, Petya Bogdanova-Mihaylova, Karen Baty, Francesca Brett, Robert W. Taylor, Luke O'Donnell, Michael D Alexander, Emma L. Blakely
Publikováno v:
Journal of Neuromuscular Diseases. 7:355-360
We describe a patient with chronic progressive external ophthalmoplegia (CPEO) due to a rare mitochondrial genetic variant. Muscle biopsy revealed numerous cytochrome c oxidase (COX)-deficient fibres, prompting sequencing of the entire mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7425c38226bc00a99dd877de6eacc85
https://doi.org/10.3233/jnd-200486
https://doi.org/10.3233/jnd-200486
Autor:
Petya Bogdanova-Mihaylova, Hongying Chen, Raymond P. Murphy, Daniel G. Healy, Richard A. Walsh, Michael D Alexander, Sinéad M. Murphy
Publikováno v:
Journal of the Peripheral Nervous System. 24:348-353
Mutations in apoptosis-inducing factor mitochondrion-associated-1 (AIFM1) cause X-linked peripheral neuropathy (Cowchock syndrome, CMT4X); however, more recently a cerebellar presentation has been described. We describe a large Irish family with seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76add2b7793e40a79c5aca6563d9b927
https://doi.org/10.1111/jns.12348
https://doi.org/10.1111/jns.12348
Autor:
Petya, Bogdanova-Mihaylova, Hongying, Chen, Helena Maria, Plapp, Ciara, Gorman, Michael D, Alexander, John C, McHugh, Sharon, Moran, Anne, Early, Lorraine, Cassidy, Timothy, Lynch, Sinéad M, Murphy, Richard A, Walsh
Publikováno v:
Journal of neurology. 268(10)
Mutations in SPG7 are increasingly identified as a common cause of spastic ataxia. We describe a cohort of Irish patients with recessive SPG7-associated phenotype.Comprehensive phenotyping was performed with documentation of clinical, neurophysiologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95cdc5cf7a60c28874a5eeb445ef4d5f
https://pubmed.ncbi.nlm.nih.gov/34014344
https://pubmed.ncbi.nlm.nih.gov/34014344
Autor:
Julie MacMahon, Sinéad M. Murphy, Michael D Alexander, Poornima Jayadev Menon, Lisa Costelloe, Ronan Desmond, Anne-Marie Tobin
Publikováno v:
Practical neurology.
A 62-year-old man reported tingling and numbness in his hands over 8 months that had progressed to his wrists, and with hand weakness. Two years previously he had developed thickening of the skin on his face and blistering skin lesions on his hands.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b87e3c9d75ff0016f908b35be13f5e74
https://pubmed.ncbi.nlm.nih.gov/32855210
https://pubmed.ncbi.nlm.nih.gov/32855210
Publikováno v:
Practical neurology. 20(5)
A 63-year-old man had a 5-week history of a constant right-sided pulsating headache that was initially temporo-parietal but migrated to the suboccipital area. This was associated with new-onset of dysarthria. On examination, there was deviation of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4537a43f0f812d906568bf754e0f2857
https://pubmed.ncbi.nlm.nih.gov/32366594
https://pubmed.ncbi.nlm.nih.gov/32366594
Publikováno v:
Journal of the Peripheral Nervous System. 22:219-223
Waardenburg syndrome (WS) is a rare disorder comprising sensorineural deafness and pigmentation abnormalities. Four distinct subtypes are defined based on the presence or absence of additional symptoms. Mutations in six genes have been described in W
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64aca612b8dc5151238b23b55abe8fe0
https://doi.org/10.1111/jns.12221
https://doi.org/10.1111/jns.12221
Autor:
Richard A. Walsh, N. Austin, Raymond P. Murphy, Michael D Alexander, Petya Bogdanova-Mihaylova, Sinéad M. Murphy, L. Cassidy
Publikováno v:
European journal of neurology. 27(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaef8f73dbafa5162b2e7bee798d7e20
https://pubmed.ncbi.nlm.nih.gov/31532039
https://pubmed.ncbi.nlm.nih.gov/31532039
Autor:
Lorraine Cassidy, Ciara Gorman, Petya Bogdanova-Mihaylova, Sharon Moran, Sinéad M. Murphy, Helena Maria Plapp, Hongying Chen, Timothy Lynch, Richard A. Walsh, Michael D Alexander, John C. McHugh, Anne Early
Publikováno v:
Journal of Neurology. 268:3908-3908
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff0a676c8d1911756f66dc2e0d845476
https://doi.org/10.1007/s00415-021-10593-8
https://doi.org/10.1007/s00415-021-10593-8