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A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B by Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno
Published 2022-08-01
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Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare by Sahar Al-Mahdawi, Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook, Mark A. Pook
Published 2018-11-01
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Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner by Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti
Published 2021-07-01
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