Results 81 to 90 of about 2,226 (164)

Fragile X-associated tremor/ataxia syndrome with autoimmune hepatitis requiring liver transplantation. [PDF]

BMJ Case Rep
Viteri V, Parada MF, Santos ER, Biag HMB, Schneider A, Villarreal J, Trotter JF, Hagerman RJ.   +7 more
europepmc   +1 more source

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

Cognitive-behavioral phenotypes in <i>FMR1</i> premutation carriers: a cross-population comparison with mild cognitive impairment. [PDF]

Front Mol Neurosci
Maltman N, Greenlee J, Mueller KD, Fransway BB, Shira JT, Hammann D, Lee S, Lee H, Naderi Malek A.   +8 more
europepmc   +1 more source

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

Aberrant Emotion-Cognition Integration in <i>FMR1</i> Premutation Carriers: A fNIRS Study. [PDF]

eNeuro
Bian Y, Li Y, Zhu Y, Li D, Geng Y, Guan S, Feng D, Li R, Xu Q.   +8 more
europepmc   +1 more source

Translational Paradox of Triplet Repeat Expansion Disorders: Synthesizing Clinical Trial Failures to Guide Future Therapeutics. [PDF]

Clin Pharmacol Ther
Swarup V, Deepika D, Garg D, Srivastava AK.   +3 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

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

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

From development to disease: the neuronal role of hnRNPs through the lens of <i>Drosophila</i>. [PDF]

Front Cell Dev Biol
Stefanelli C, Colaianni D, De Pittà C, Mazzotta GM.   +3 more
europepmc   +1 more source