Results 121 to 130 of about 2,807 (196)

Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS. [PDF]

Cerebellum
Berglund S, Hashim F, Laffita-Mesa J, Malmgren H, Anderlid BM, Granberg T, Sjöström H, Svenningsson P, Paucar M.   +8 more
europepmc   +1 more source

Protective role of PASH-1 in CGG repeat-driven RNA and protein toxicity in FXTAS. [PDF]

iScience
Hsu TY, Yang HY, Hsieh LS, Chen KY, Chiou GY, Chen AY, Shieh J, L'Etoile ND, Hagerman PJ, Juang BT.   +9 more
europepmc   +1 more source

Progression of fragile X-associated tremor/ataxia syndrome revealed by subtype and stage inference. [PDF]

Brain Commun
Morrison DE, Ponzini MD, Santos ER, Biag HMB, Espinal G, Tassone F, Rivera SM, Hessl D, Schneider A, Bourgeois JA, Hagerman R, Kim K.   +11 more
europepmc   +1 more source

Deep Brain Stimulation for Cerebellar Ataxia: A Systematic Review on Indications, Targets and Outcomes. [PDF]

Cerebellum
Mantovani G, Antenucci P, Collautti E, Gozzi A, Sensi M, Cavallo MA, Scerrati A.   +6 more
europepmc   +1 more source

Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). [PDF]

Genes (Basel)
McGatlin K, Shafer RL, Unruh KE, Stevens CJ, Peterson SG, Dubinsky RM, Lee AP, Tassone F, Hagerman RJ, Bailey H, Mosconi MW.   +10 more
europepmc   +1 more source

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a neurodegenerative disorder caused by expansion of 55-200 CGG repeats in the 5\u27-UTR of the FMR1 gene.
Elliott DJ, Gattoni R, Charlet-Berguerand N, Liu YL, Schneider A, Hukema RK, Willemsen R, Sellier C, Rau F, Richard S, Hagerman PJ, Tassone F   +11 more
core  

The imperative for multigenerational genetic screening: A case report of fragile X-associated tremor/ataxia syndrome (FXTAS). [PDF]

Medicine (Baltimore)
Huang Y, Huang Z, Wang Z, Tang W, Zhang X.   +4 more
europepmc   +1 more source

Triggering mechanisms in the molecular pathogenesis of FXTAS

, 2018
This study focuses on the triggering mechanisms leading to development of the neurodegenerative disorder Fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects carriers of a “premutation” in the Fragile X Mental Retardation 1 (FMR1) gene on the X chromosome.
openaire   +1 more source

Instrumented Timed Up and Go (iTUG): A Systematic Review of Parameters Across Healthy, Older, and Neurological Populations. [PDF]

J Clin Med
Szaflik P, Nowakowska-Lipiec K.
europepmc   +1 more source

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. [PDF]

Int J Mol Sci
Bernardi E, López-Lombardía Ó, Olmedo-Saura G, Pagonabarraga J, Kulisevsky J, Pérez-Pérez J.   +5 more
europepmc   +1 more source