Zobrazeno 1 - 10
of 152
pro vyhledávání: '"Fragile X tremor/Ataxia syndrome"'
Autor:
Michelle H. S. Tosin, Glenn T. Stebbins, Christopher G. Goetz, Randi J. Hagerman, David Hessl, Melissa A. Zolecki, Peter K. Todd, Maureen A. Leehey, Deborah A. Hall
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundThe original Fragile X-associated Tremor Ataxia Syndrome Rating Scale (FXTAS-RS) contained 61 items, some requiring modifications to better meet recommendations for patient-focused rating scale development.PurposeProvide initial validation
Externí odkaz:
https://doaj.org/article/be6485f439bc4d45b0c95e3797b78a0b
Akademický článek
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Autor:
Elisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, Irene Madrigal, Rob Willemsen, Montserrat Milà, Eulàlia Martí, Xavier Estivill
Publikováno v:
Neurobiology of Disease, Vol 65, Iss , Pp 43-54 (2014)
Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1). Here, we have evalua
Externí odkaz:
https://doaj.org/article/58035fb7d2a3436ba5c52018693fd325
Akademický článek
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Autor:
Will Lee, Fariha Islam
Publikováno v:
Mov Disord Clin Pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef9a092032b7f8b78a049d3617c05f7
https://doi.org/10.1002/mdc3.12944
https://doi.org/10.1002/mdc3.12944
Akademický článek
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Publikováno v:
J Biol Chem
Repeat-associated non-AUG (RAN) translation is a noncanonical translation initiation event that occurs at nucleotide-repeat expansion mutations that are associated with several neurodegenerative diseases, including fragile X–associated tremor ataxi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c888f3e907782ed1a56e8601661aaea7
https://pubmed.ncbi.nlm.nih.gov/31649034
https://pubmed.ncbi.nlm.nih.gov/31649034
Autor:
Barna D. Fodor, Jessica Klein, Pietro Chiurazzi, Marc Bühler, Tewis Bouwmeester, Guglielmo Roma, Thierry Doll, Eline Pecho-Vrieseling, Ulrike Naumann, Isabelle Fruh, Giovanni Neri, Edward J. Oakeley, Francesco Paolo Di Giorgio, Anke Thiemeyer, Matthias Mueller, Elisabetta Tabolacci, Carole Manneville, Urszula Brykczynska, Nicholas Kelley, Baltazar Gomez-Mancilla, Sascha Fuchs, Mariavittoria Iazeolla, Martin Beibel
Publikováno v:
Stem Cell Reports
Summary In fragile X syndrome (FXS), CGG repeat expansion greater than 200 triplets is believed to trigger FMR1 gene silencing and disease etiology. However, FXS siblings have been identified with more than 200 CGGs, termed unmethylated full mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::703429636f6ea1b4c2336a1f336ebc6d
https://doi.org/10.1016/j.stemcr.2016.10.004
https://doi.org/10.1016/j.stemcr.2016.10.004
Autor:
Randi J Hagerman, Angela G. Brega, Andreea L. Seritan, Rachael E. Bennett, James A. Bourgeois, Glenn K. Goodrich, Jim Grigsby
Publikováno v:
The Clinical neuropsychologist, vol 30, iss 6
ObjectivesTo clarify the neuropsychiatric phenotype of fragile X-associated tremor/ataxia syndrome (FXTAS), and assess the extent to which it is mediated by the dysexecutive syndrome that is a major feature of the disorder.MethodsWe examined the prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c97c65d491c9d09116269756da01c5b
https://doi.org/10.1080/13854046.2016.1185100
https://doi.org/10.1080/13854046.2016.1185100
Autor:
Ajal Dave, Jason S. Hawley
Publikováno v:
Future Neurology. 12:249-260
Fragile X–tremor/ataxia syndrome is a relatively newly discovered movement disorder usually affecting patients over the age of 50 who have a FMR1 gene with 55–200 CGG repeats. Patients present with tremor and ataxia and possibly executive dysfunc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c91355ddb52eab101679360c8ca4e39b
https://doi.org/10.2217/fnl-2017-0019
https://doi.org/10.2217/fnl-2017-0019