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pro vyhledávání: '"Emily C. Timm"'
Autor:
Emily C. Timm, Nicollette L. Purcell, Bichun Ouyang, Elizabeth Berry-Kravis, Deborah A. Hall, Joan Ann O’Keefe
Publikováno v:
Sensors, Vol 24, Iss 8, p 2586 (2024)
FXTAS is a neurodegenerative disorder occurring in some Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene premutation carriers (PMCs) and is characterized by cerebellar ataxia, tremor, and cognitive deficits that negatively impact balance and gait
Externí odkaz:
https://doaj.org/article/8fa99f7c571640f6959b12db08d7cf73
Autor:
Erin E. Robertson-Dick, Emily C. Timm, Gian Pal, Bichun Ouyang, Yuanqing Liu, Elizabeth Berry-Kravis, Deborah A. Hall, Joan A. O’Keefe
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundFragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease that affects carriers of a 55-200 CGG repeat expansion in the fragile X messenger ribonucleoprotein 1 (FMR1) gene, may be given an incorrect initial diagnosis
Externí odkaz:
https://doaj.org/article/357f51007b5c41eb86351d3a87002a66