Results 111 to 120 of about 3,629 (136)

Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice. [PDF]

Nat Genet
Matuszek Z, Arbab M, Kesavan M, Hsu A, Roy JCL, Zhao J, Yu T, Weisburd B, Newby GA, Doherty NJ, Wu M, Shibata S, Cristian A, Tao YA, Fearnley LG, Bahlo M, Rehm HL, Xie J, Gao G, Mouro Pinto R, Liu DR.   +20 more
europepmc   +1 more source

An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia. [PDF]

Int J Mol Sci
Da Conceição LMA, Cabral LM, Pereira GRC, De Mesquita JF.   +3 more
europepmc   +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

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Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

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Matej Skorvanek, Glenn T Stebbins, Santiago Perez-Lloret   +2 more
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Development and Validation of a Patient‐Reported Outcome Measure of Ataxia

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Gluten ataxia in perspective: epidemiology, genetic susceptibility and clinical characteristics

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Rebecca Rigby, Nicola Woodroofe, Nicholas Wood   +2 more
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The aetiology of sporadic adult‐onset ataxia

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Thomas Klockgether, Ludger Schols, K Burk   +2 more
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