Results 151 to 160 of about 4,503 (204)

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X-Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials. [PDF]

Ann Neurol
Hessl D, Wang JY, Espinal G, Santos E, Tassone F, Hagerman RJ, Rivera SM.   +6 more
europepmc   +1 more source

Cognitive dysfunction in women with the <i>FMR1</i> premutation during midlife: The LASSI-L reveals curvilinear CGG-dependent risk buffered by college education. [PDF]

J Alzheimers Dis
Klusek J, Gierman J, Fairchild AJ, Benitez AM, Berry-Kravis E, Mailick MR.   +5 more
europepmc   +1 more source

Advances in exploring the association between FMR1 premutation and fibromyalgia: a pilot study with a more effective sample definition. [PDF]

Clinics (Sao Paulo)
Pinheiro MMLS, Antunes MD, Carvalho LML, Pássaro AC, de Souza IMB, Januário PO, Cruz AT, Lemes RB, Monfardini F, Marques AP.   +9 more
europepmc   +1 more source

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions. [PDF]

eNeurologicalSci
Ishizawa K, Hashimoto K, Oka H, Sugawara T, Amari M, Kawarabayashi T, Okamoto K, Tamai C, Sone J, Ikeda Y, Takatama M, Shoji M.   +11 more
europepmc   +1 more source

Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome. [PDF]

Nat Commun
Jin Y, Cao Y, Ma W, Li R, Li Y, Kang Y, Huang J, Epstein MP, Guo X, Lim J, Rivera N, Zhou Y, Wen Z, Allen EG, Jin P.   +14 more
europepmc   +1 more source

Emerging drivers of DNA repeat expansions. [PDF]

Biochem Soc Trans
Li L, Scott WS, Mirkin SM.
europepmc   +1 more source

Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome. [PDF]

Front Mol Neurosci
Zafarullah M, Ponzini M, Kim K, Hagerman PJ, Hagerman RJ, Tassone F.   +5 more
europepmc   +1 more source

Prevalence of Fragile X syndrome in Georgian patients with autism spectrum disorder and/or intellectual disability: cross-sectional study and review of current approaches. [PDF]

Front Pediatr
Tabatadze N, Koniashvili O, Melikishvili G, Bienvenu T, Cuisset L, Tassone F, Protic DD, Naneishvili N, Zarandia M, Gverdtsiteli S, Kakabadze S, Gachechiladze T, Melikishvili M, Kuchukashvili Z, Giunashvili T, Silagava K, Mamardashvili G, Chipashvili M, Barabadze K, Abbeduto L, Hagerman RJ.   +20 more
europepmc   +1 more source

MASTR-seq enables multiplexed analysis of short tandem repeats with sequencing. [PDF]

Cell Rep Methods
Su C, Ryu HS, Chandradoss KR, Malachowski T, Boya R, Zhou L, Nguyen HE, Mazzoni EO, Brennand KJ, Phillips-Cremins JE.   +9 more
europepmc   +1 more source

Meeting Abstracts of the 1st Fragile X International Congress. [PDF]

Orphanet J Rare Dis
europepmc   +1 more source