Results 121 to 130 of about 14,330 (189)

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

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

CRISPR tiling deletion screens reveal functional enhancers and allelic compensation effects (ACE) on SIN3A transcription. [PDF]

Nat Commun
Ren X, Zheng L, Liu Y, Maliskova L, Tam TW, Sun Y, Liu H, Cui X, Lee J, Takagi MA, Li B, Ren B, Wang W, Shen Y.   +13 more
europepmc   +1 more source

MASTR-seq enables multiplexed analysis of short tandem repeats with sequencing. [PDF]

Cell Rep Methods
Su C, Ryu HS, Chandradoss KR, Malachowski T, Boya R, Zhou L, Nguyen HE, Mazzoni EO, Brennand KJ, Phillips-Cremins JE.   +9 more
europepmc   +1 more source

Glymphatic dysfunction and neuroinflammation in FXTAS: evidence from DTI-ALPS and gene expression analysis. [PDF]

Front Mol Neurosci
Elias-Mas A, Moreno EG, Martí CP, Rubio-Roy M, Aguado-Gracia J, Muñoz-Moreno E, Hinojosa A, Herrero I, Alvarez-Mora MI, Hagerman R, Wang JY, Zaro I, Ortiz SG, Krupinski J, Rodriguez-Revenga L.   +14 more
europepmc   +1 more source

Age-Related Decline in Dendritic Architecture of Hippocampal CA1 Principal Neurons in a Mouse Model of Fragile X Syndrome. [PDF]

Dev Neurobiol
Farooqi NNU, Nyengaard JR, Banke TG.
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

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility. [PDF]

Autism Res
Möhrle D, Ma D, Xue W, Yan J, Cheng N.
europepmc   +1 more source

FMR1 reduction alters cellular and circuit properties in human cortex

Singh A, Abbaspoor S, Chung L, Heinrich MJ, Stone S, Lidov H, Maio B, Phuoc-Tran T, Yoon J, Teng J, Martinez-Reyes C, Hammarlund E, Xu X, Rotenberg A, Gavornik J, Ferguson B, Farrell JS, Osterweil EK.   +17 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