Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Stela Lefter"'
Autor:
Stela Lefter, Aisling M. Ryan
Publikováno v:
Tremor and Other Hyperkinetic Movements. 13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1e37a40e380c6c6911e06c2ba1b4eaf
https://doi.org/10.5334/tohm.750
https://doi.org/10.5334/tohm.750
Publikováno v:
Mov Disord Clin Pract
Background Late-onset Tay-Sachs disease (LOTS) is an autosomal-recessive lysosomal storage disease caused by deficient β-hexosaminidase A activity. LOTS is rare in the Ashkenazi Jews, but even rarer in the non-Jewish population. Cases We report an I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c92fc239a2ead601c4f70f1686f5ec3
https://doi.org/10.1002/mdc3.13096
https://doi.org/10.1002/mdc3.13096
Publikováno v:
Neuromuscular Disorders. 30:701-706
Sensory ganglionopathies (or neuronopathies) are a rare subgroup of neuropathies characterized by involvement of sensory neurons in the dorsal root ganglion. Although much less common than central nervous system involvement, patients with systemic lu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c30e035b5a6d4955614f3c7d6285fdfa
https://doi.org/10.1016/j.nmd.2020.07.002
https://doi.org/10.1016/j.nmd.2020.07.002
Autor:
Patrick B. Moloney, Brian McNamara, Stela Lefter, Michael Jansen, Niamh Bermingham, Aisling M. Ryan
Publikováno v:
The Neurodiagnostic journal. 61(2)
Historically, electromyography (EMG) is utilized early in the diagnostic evaluation of neuromuscular disorders, but its importance may be diminishing with more sophisticated genetic, imaging and immunohistochemistry investigations now available. In t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e415a6033cdc3d78b24bd3c225143e
https://pubmed.ncbi.nlm.nih.gov/34120582
https://pubmed.ncbi.nlm.nih.gov/34120582
Autor:
Rahim Khan, Marios Hadjivassiliou, Eimear McAuliffe, Michael J. Regan, Stela Lefter, Luke Corcoran, Louise M. Burke
Publikováno v:
Practical Neurology. 20:144-147
Chorea can be genetic or acquired, and often leads to a challenging diagnostic conundrum. In a significant proportion, there is no specific identifiable cause. Chorea is a rare but potentially reversible neurological manifestation of coeliac disease,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a39de981e8a6e1d2b6bcccef8b7c31c
https://doi.org/10.1136/practneurol-2019-002396
https://doi.org/10.1136/practneurol-2019-002396
Publikováno v:
Public Policy in ALS/MND Care ISBN: 9789811558399
The Irish Republic (population 4.9 million) has 150 new cases of ALS each year and 380 individuals living with the condition. There is one specialist public multidisciplinary service for ALS in the country, linking closely with the voluntary organiza
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b9d29636128ec22d15524f1fd34c51f
https://doi.org/10.1007/978-981-15-5840-5_9
https://doi.org/10.1007/978-981-15-5840-5_9
Publikováno v:
Journal of Neuro-Ophthalmology. 41:e34-e35
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aea2d10320ec0ba5f356aaa74837ad84
https://doi.org/10.1097/wno.0000000000000925
https://doi.org/10.1097/wno.0000000000000925
Publikováno v:
Neurology. 88:304-313
Objective:To estimate the prevalence rates (PRs) of acquired and inherited neuromuscular diseases (NMD) in the adult Irish population, reflecting the burden of these conditions in a single country.Methods:This population-based study was performed in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b120c6827e27f3d833c5dda77cebc69a
https://doi.org/10.1212/wnl.0000000000003504
https://doi.org/10.1212/wnl.0000000000003504
Autor:
Stela Lefter, Orla Hardiman, John McConville, Donal Costigan, Bryan Lynch, Aisling M. Ryan, Collette K. Hand
Publikováno v:
Journal of Clinical Neuromuscular Disease. 16:79-82
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic abnormalities. We present a 19-year-old man with characteristic ske
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92790e5aafa581599c6c3956cc6402bd
https://doi.org/10.1097/cnd.0000000000000052
https://doi.org/10.1097/cnd.0000000000000052
Autor:
John C. Morris, Peimin Yu, Satz Mengensatzproduktion, Orla Hardiman, Monika Michalec, Amy R. Borenstein, Shuguang Chu, Scot Fague, Hua Weng, Zhen Hong, James A. Mortimer, Emily Brogan, Druckerei Stückle, Jie Pan, David Blacker, Chengjie Xiong, Richard B. Lipton, Li Zheng, Stela Lefter, David A. Bennett, Qianhua Zhao, Patricia A. Boyle, Qihao Guo, Kim Brookes, Aisling M. Ryan, Lirong Yu, Haijiao Meng, Elan D. Louis, Yan Zhou, Ding Ding, Charles B. Hall, Charley A. Budgeon, Raj C. Shah, Jianfeng Luo, Bei Wang, Claire Langdon, Art Gillman
Publikováno v:
Neuroepidemiology. 43:71-113
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41500e71d4747942b1a29efffa63a48e
https://doi.org/10.1159/000369115
https://doi.org/10.1159/000369115