Results 131 to 140 of about 5,127 (199)

Use of the Behavioral Dyscontrol Scale-2 (BDS-2) to measure executive dysfunction in FXTAS. [PDF]

Front Mol Neurosci
Amrei SAM, Hasan H, Santos E, Biag HMB, Schneider A, Wang JY, Hessl DR, Tassone F, Morrison E, Kim K, Hagerman RJ.   +10 more
europepmc   +1 more source

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. [PDF]

Hum Mol Genet
Devore MC, Lam C, Xiao E, Devore J, McCain KRC, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +8 more
europepmc   +1 more source

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 more
europepmc   +1 more source

DNA methylation and proteomic profiling of postmortem brain tissue reveals epigenetic dysregulation and inflammatory signaling in fragile X-associated tremor/ataxia syndrome. [PDF]

Front Mol Neurosci
Lozano R, Lin X, Hagerman R, Martínez-Cerdeño V, Pinto D.   +4 more
europepmc   +1 more source

Management of fragile X-associated tremor ataxia syndrome: a review for clinicians. [PDF]

Front Neurol
Hall DA, González DA, Klusek J, Todd PK, O'Keefe JA, Maltman N, Montanaro FAM, Protic D, Scorr L, Malik R, Turcano P, Meyers MS, Seritan A.   +12 more
europepmc   +1 more source

Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysis. [PDF]

Front Mol Neurosci
Elias-Mas A, Moreno EG, Martí CP, Rubio-Roy M, Aguado-Gracia J, Muñoz-Moreno E, Hinojosa A, Herrero I, Alvarez-Mora MI, Hagerman R, Wang JY, Zaro I, Ortiz SG, Krupinski J, Rodriguez-Revenga L.   +14 more
europepmc   +1 more source

Critical interloping, collaboration and entangling the 'expert cultures' of art, science and lived experience: Jacqueline Donachie's artist-led research on myotonic dystrophy. [PDF]

Med Humanit
Johnstone F.
europepmc   +1 more source

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

The apolipoprotein gene: a modulating role on brain volume and cognitive function in carriers of the fragile X premutation. [PDF]

Neurobiol Dis
Jiraanont P, Wang JY, Durbin-Johnson B, Hwang YH, Hessl D, Rivera SM, Hagerman RJ, Tassone F.   +7 more
europepmc   +1 more source