Results 181 to 190 of about 19,426 (255)

A case of fragile X-associated tremor/ataxia syndrome with superior cerebellar peduncle lesions. [PDF]

eNeurologicalSci
Ishizawa K, Hashimoto K, Oka H, Sugawara T, Amari M, Kawarabayashi T, Okamoto K, Tamai C, Sone J, Ikeda Y, Takatama M, Shoji M.   +11 more
europepmc   +1 more source

α-Tocopherol Protects Against Oxidative Stress in the Fragile X Knockout Mouse: an Experimental Therapeutic Approach for the Fmr1 Deficiency [PDF]

, 2008
Yolanda de Diego‐Otero, Silvana Y. Romero‐Zerbo, Rajaa El Bekay, Juan Decara, L. Noemí Sánchez, Fernando Rodríguez‐de Fonseca, Ignacio del Arco   +6 more
openalex   +1 more source

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich's ataxia. [PDF]

Epigenetics Chromatin
Grant-Bier J, Ruppert K, Hayward B, Usdin K, Kumari D.   +4 more
europepmc   +1 more source

Involvement of the Cerebellar Peduncles in <i>FMR1</i> Premutation Carriers: A Pictorial Review of Their Anatomy, Imaging, and Pathology. [PDF]

Int J Mol Sci
Paracuellos-Ayala I, Caruana G, Reyes Ortega MM, Hagerman RJ, Wang JY, Rodriguez-Revenga L, Elias-Mas A.   +6 more
europepmc   +1 more source

Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease [PDF]

, 2008
Deborah A. Hall, Katherine L. Howard, Randi Hagerman, Maureen A. Leehey   +3 more
openalex   +1 more source

Rare FMR1 gene mutations causing fragile X syndrome: A review

American Journal of Medical Genetics. Part A, 2018
Adam F Sitzmann, R. T. Hagelstrom, F. Tassone, R. Hagerman, M. Butler   +4 more
semanticscholar   +1 more source

FMRP Controls Neuronal Architecture and Synaptic Content of NMDA Receptors in Cultured Hippocampal Neurons. [PDF]

J Mol Neurosci
Corti E, Duarte CB.
europepmc   +1 more source

Reduced Hippocampal Activation During Recall is Associated with Elevated FMR1 mRNA and Psychiatric Symptoms in Men with the Fragile X Premutation [PDF]

, 2008
Kami Koldewyn, David Hessl, John S. Adams, Flora Tassone, Paul J. Hagerman, Randi J. Hagerman, Susan M. Rivera   +6 more
openalex   +1 more source

Insufficiency of 40S ribosomal proteins, RPS26 and RPS25, negatively affects biosynthesis of polyglycine-containing proteins in fragile-X associated conditions. [PDF]

Elife
Tutak K, Broniarek I, Zielezinski A, Niewiadomska D, Skrzypczak T, Baud A, Sobczak K.   +6 more
europepmc   +1 more source

Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes. [PDF]

Genes (Basel)
Lee E, Orton K, Kwan E, Faga C, Le T, Shaheen R, Nair V, Cliffe S.   +7 more
europepmc   +1 more source