Results 131 to 140 of about 2,807 (196)

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

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

Clinics in diagnostic imaging (224). [PDF]

Singapore Med J
Li J.
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

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

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

Brain
Hagerman R.
europepmc   +1 more source

Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy. [PDF]

Acta Neuropathol Commun
Li C, Daw JA, Pittman SK, Maltby CJ, Sakurai H, Todd PK, Weihl CC.   +6 more
europepmc   +1 more source

Modelling fragile X-associated neuropsychiatric disorders in young inducible 90CGG premutation mice. [PDF]

Brain
Çalışkan G, Lacalle SE, Kul E, Del Ángel M, Zambrano AL, Hukema R, Santos M, Stork O.   +7 more
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

Identification of a novel <i>CLCN2</i> homozygous variant in a man with leukoencephalopathy and infertility: a case report and literature review. [PDF]

Front Genet
Yu L, Jiang W, Cao L, Geng Z, Chen J.
europepmc   +1 more source