Results 101 to 110 of about 2,226 (164)

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

IGF2BPs directly regulate the noncanonical translation of toxic proteins from mutant FMR1 mRNA containing expanded CGG repeats. [PDF]

Nat Commun
Baud A, Saha D, Skrzypczak T, Broniarek I, Niewiadomska D, Szlachcic WJ, Borowiak M, Gudipati RK, Sobczak K.   +8 more
europepmc   +1 more source

Chronic pain, fatigue, and emotional distress in female <i>FMR1</i> premutation carriers. [PDF]

Front Mol Neurosci
Protic D, Stojkovic M, Hagerman R, Bascarevic D, Ogrizovic J, Dimitrijevic S, Pesovic J, Savic-Pavicevic D, Budimirovic D.   +8 more
europepmc   +1 more source

Clinics in diagnostic imaging (224). [PDF]

Singapore Med J
Li J.
europepmc   +1 more source

Bringing fragile X-associated neuropsychiatric disorders into the phenotypic fold of premutation conditions. [PDF]

Brain
Hagerman R.
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

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

Exploring the Potential of Scales to Assess Different Types of Ataxia: Meta-review. [PDF]

Cerebellum
Racero-Ríos S, Romero-Galisteo RP, González-Sánchez M.   +2 more
europepmc   +1 more source

Lacosamide Interaction with Expanded CGG Repeats RNA and Its Role in Modulating Poly-Glycine Protein-Mediated Toxicity in Fragile‑X Tremor/Ataxia Syndrome. [PDF]

ACS Pharmacol Transl Sci
Singh K, Shukla S, Kumari AP, Kumar A.
europepmc   +1 more source

Polyglycine-mediated aggregation of FAM98B disrupts tRNA processing in GGC repeat disorders. [PDF]

Science
Yang J, Xu Y, Ziehr DR, Taylor MS, Valenstein ML, Frenkel EM, Bush JR, Rutter K, Stevanovski I, Shi CY, Kesavan M, Pinto RM, Deveson I, Bartel DP, Sabatini DM, Chivukula RR.   +15 more
europepmc   +1 more source