Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Helena Maria Plapp"'
Autor:
Petya Bogdanova-Mihaylova, Helena Maria Plapp, Hongying Chen, Anne Early, Lorraine Cassidy, Richard A. Walsh, Sinéad M. Murphy
Publikováno v:
Tomography, Vol 7, Iss 4, Pp 915-931 (2021)
Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with opti
Externí odkaz:
https://doaj.org/article/d778574661384a19b5b68c26f4f61f1d
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:
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:
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
Autor:
Petya Bogdanova-Mihaylova, Hongying Chen, Richard A. Walsh, Sinéad M. Murphy, Helena Maria Plapp
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 90:e41.4-e42
Reduction of retinal nerve fibre layer (RNFL) thickness has been reported in neurodegenerative conditions, including inherited ataxias and hereditary spastic paraparesis. Mutations inSPG7are increasingly identified as a common cause of spastic ataxia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e1b9be44e6351996e3e2d03f9eeef36
https://doi.org/10.1136/jnnp-2019-abn-2.139
https://doi.org/10.1136/jnnp-2019-abn-2.139