Results 111 to 120 of about 748 (132)

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

Orphanet J Rare Dis
europepmc   +1 more source

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons. [PDF]

J Neurodev Disord
Hourani SM, Utami KH, Oh SL, Castrén ML, Pouladi MA.   +4 more
europepmc   +1 more source

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report. [PDF]

BMC Neurol
Zhong S, Liu J, Lian Y, Zhou B, Wang X, Ding J.   +5 more
europepmc   +1 more source

Beyond Repetition: The Role of Gray Zone Alleles in the Upregulation of FMR1-Binding miR-323a-3p and the Modification of BMP/SMAD-Pathway Gene Expression in Human Granulosa Cells. [PDF]

Int J Mol Sci
Vilkaite A, Nguyen XP, Güzel CT, Gottschlich L, Bender U, Dietrich JE, Hinderhofer K, Strowitzki T, Rehnitz J.   +8 more
europepmc   +1 more source

Healthcare Experiences of African American Women with the Fragile X Premutation. [PDF]

J Racial Ethn Health Disparities
King AP, Ali N, Bellcross C, Ehivet F, Hipp HS, Vaughn J, Allen EG.   +6 more
europepmc   +1 more source

Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance. [PDF]

Int J Mol Sci
Protic D, Polli R, Bettella E, Usdin K, Murgia A, Tassone F.   +5 more
europepmc   +1 more source

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome. [PDF]

J Neurodev Disord
Farmiloe G, Bejczy V, Tabolacci E, Willemsen R, Jacobs F.   +4 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

Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints. [PDF]

J Neuromuscul Dis
Ishiura H.
europepmc   +1 more source