Results 121 to 130 of about 5,127 (199)

Essential tremor-like phenotype in Fragile X carrier women. [PDF]

Clin Park Relat Disord
Hall DA, Loesch D, Svymbersky T, Berry-Kravis E, Ouyang B.   +4 more
europepmc   +1 more source

Cerebellar GABA and executive function among adult female carriers of the fragile X messenger ribonucleoprotein 1 premutation: a pilot study to examine neural underpinnings of the clinical phenotype. [PDF]

Neurobiol Dis
Harold R, Kamat R, Neo WS, Novak K, Nossa G, Monsivais H, Durham P, Zhou X, Dydak U, Berry-Kravis E, Foti D, Kelleher BL.   +11 more
europepmc   +1 more source

Analysis of CGG repeat numbers in the FMR1 gene among women of childbearing age in Northeast Sichuan. [PDF]

BMC Genom Data
Chen L, Zhang X, Song Y, Chen L, He Y, Li Y, Cai Y, Shi Q.   +7 more
europepmc   +1 more source

Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights. [PDF]

Nat Commun
Rajan-Babu IS, Chiu R, Weisburd B, Caglayan I, Birol I, Friedman JM.   +5 more
europepmc   +1 more source

Fragile X primary ovarian insufficiency. [PDF]

Colomb Med (Cali)
Boutrid N, Rahmoune H.
europepmc   +2 more sources

Comprehensive, multidisciplinary care for fragile X-associated tremor/ataxia syndrome. [PDF]

Front Neurol
Bourgeois JA, Schneider A, Klusek J, Christensen TR, Levin E, Gardner K, Jacobi AA, Hagerman RJ.   +7 more
europepmc   +1 more source

Population-scale repeat expansions elucidate disease risk and brain atrophy. [PDF]

Nature
Pounraja VK, Sul JH, Herman J, O'Keeffe S, Rajagopal V, Bai X, Kessler MD, Parikshak N, Landheer K, Zhang X, Yu S, Zhang L, LeBlanc MG, Rico-Varela J, Grau F, Wolf S, Sundaramoorthy S, Sepehrband F, Stahl EA, Huo Y, Ahmed M, Croll S, GHS-RGC DiscovEHR Collaboration, Mayo-RGC Project Generation, Penn Medicine BioBank, Salerno W, Overton JD, Marchini J, Reid J, Lotta LA, Baras A, Regeneron Genetics Center, Abecasis GR, Coppola G, Gelfman S.   +34 more
europepmc   +1 more source

Advancing Standardization in Fragile X Syndrome Molecular Diagnosis: A Dual-Structured and Scoping Review. [PDF]

Children (Basel)
Sallum BT, de Figueiredo MGC, Haddad MEO, Santos WS, Cordeiro ML.   +4 more
europepmc   +1 more source

Dystonic Head Tremor as a Presenting Feature of FMR1 Premutation: A Case Report. [PDF]

Ann Indian Acad Neurol
Mustafa F, Garg D, Agarwal A, Garg A, Srivastava AK.   +4 more
europepmc   +1 more source

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male <i>FMR1</i> premutation carriers. [PDF]

Front Mol Neurosci
Elias-Mas A, Paracuellos-Ayala I, Wang JY, Kim K, Tassone F, Schneider A, Hessl D, Rivera SM, Hagerman RJ.   +8 more
europepmc   +1 more source