FRDA FXN

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.

Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.

D O,McDaniel, B,Keats, V V,Vedanarayanan, S H,Subramony

Clinical and genetic abnormalities in patients with Friedreich's ataxia.

A,Dürr, M,Cossee, Y,Agid, V,Campuzano, C,Mignard, C,Penet, J L,Mandel, A,Brice, M,Koenig

Diseases of unstable repeat expansion: mechanisms and common principles.

Jennifer R,Gatchel, Huda Y,Zoghbi

Clinical and neuroimaging review of triplet repeat diseases.

Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

V,Campuzano, L,Montermini, M D,Moltò, L,Pianese, M,Cossée, F,Cavalcanti, E,Monros, F,Rodius, F,Duclos, A,Monticelli, F,Zara, J,Cañizares, H,Koutnikova, S I,Bidichandani, C,Gellera, A,Brice, P,Trouillas, G,De Michele, A,Filla, R,De Frutos, F,Palau, P I,Patel, S,Di Donato, J L,Mandel, S,Cocozza, M,Koenig, M,Pandolfo

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Joohyun,Park, Claudia,Dufke, Zofia,Fleszar, Michael,Schlotterbek, Elena,Buena-Atienza, Lara G,Stühn, Caspar,Gross, Marc,Sturm, Stephan,Ossowski, Ludger,Schöls, Olaf,Riess, Tobias B,Haack

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova

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

Zaneta,Matuszek, Mandana,Arbab, Maheswaran,Kesavan, Alvin,Hsu, Jennie C L,Roy, Jing,Zhao, Tian,Yu, Ben,Weisburd, Gregory A,Newby, Neil J,Doherty, Muzhou,Wu, Shota,Shibata, Ana,Cristian, Y Allen,Tao, Liam G,Fearnley, Melanie,Bahlo, Heidi L,Rehm, Jun,Xie, Guangping,Gao, Ricardo,Mouro Pinto, David R,Liu

Inhibition of Rho-Associated Kinases ROCK1 and ROCK2 as a Therapeutic Strategy to Reactivate the Repressed

Minggang,Fang, Shahid,Banday, Sara K,Deibler, Tessa M,Simone, Madison,Coleman, Emerald,O'Connor, Rui,Li, Lihua Julie,Zhu, Michael R,Green

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.

Jessalyn,Grant-Bier, Kathryn,Ruppert, Bruce,Hayward, Karen,Usdin, Daman,Kumari

ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges.

Ludmila,Kaplun, Greice,Krautz-Peterson, Nir,Neerman, Yocheved,Schindler, Elinor,Dehan, Claudia S,Huettner, Brett K,Baumgartner, Christine,Stanley, Alexander,Kaplun

Diagnosis of hereditary ataxias: a real-world single center experience.

Adriana,Meli, Vincenzo,Montano, Giovanni,Palermo, Antonella,Fogli, Anna,Rocchi, Annalisa Lo,Gerfo, Rossella,Maltomini, Ludovica,Cori, Antonio,Siniscalchi, Clara,Bernardini, Giulia,Cecchi, Gabriele,Siciliano, Roberto,Ceravolo, Maria Adelaide,Caligo, Michelangelo,Mancuso, Piervito,Lopriore

Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.

Assessment of the Clinical Interactions of GAA Repeat Expansions in

Brandon J,Gerhart, David,Pellerin, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Gabriel,Matos-Rodrigues, Andre,Nussenzweig, Karen,Usdin, Courtney C,Park, Jill S,Napierala, David R,Lynch, Marek,Napierala