Results 151 to 160 of about 18,012 (216)

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

Autism Spectrum Disorders and Purinergic Signaling: A Systematic Review of Emerging Insights from Preclinical Studies. [PDF]

J Mol Neurosci
Guha S, Elisha DH, Eshraghi RS, Mittal R, Deth RC, Eshraghi AA.   +5 more
europepmc   +1 more source

Long-read genome sequencing improves detection and functional interpretation of structural and repeat variants in autism. [PDF]

Cell Genom
Mortazavi M, Guevara J, Diaz J, Tran S, Ziaei Jam H, Reeves C, Batalov S, Jepsen K, Bainbridge M, Besterman AD, Gymrek M, Palmer AA, Sebat J.   +12 more
europepmc   +1 more source

T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male <i>FMR1</i> premutation carriers. [PDF]

Front Mol Neurosci
Elias-Mas A, Paracuellos-Ayala I, Wang JY, Kim K, Tassone F, Schneider A, Hessl D, Rivera SM, Hagerman RJ.   +8 more
europepmc   +1 more source

Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis. [PDF]

Front Neurosci
Huang J, Kang B, Xia X, Guo Z, Lv Y, Yang W, Wang C, Wang J, Liao S.   +8 more
europepmc   +1 more source

Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models. [PDF]

J Neurodev Disord
Goel A, Razak KA, Chubykin AA, Antoine MW.   +3 more
europepmc   +1 more source

A rapid and dynamic role for FMRP in the plasticity of adult neurons. [PDF]

Nat Commun
Gundermann DG, Lymer S, Lennon J, Blau J.   +3 more
europepmc   +1 more source

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic. [PDF]

Ann Clin Transl Neurol
Greco G, Motta C, Marchionni E, D'Apice MR, Carrese C, Novelli G, Martorana A, Bonomi CG.   +7 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

Episignature-based modelled first-tier diagnostic approach in the Dutch Caribbean: advancing equal care through epigenetic classification. [PDF]

Front Genet
van der Laan L, Luijckx A, Lo-A-Njoe S, Ecury-Goossen GM, Falix FA, Faries S, Manshande ME, Philippi PAEAC, van der Plas EM, Veenhuis HD, Rafael-Croes L, Mannens MMAM, Sadikovic B, Henneman P, Alders M, van Haelst MM.   +15 more
europepmc   +1 more source