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Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicismTomé, Stéphanie ; Dandelot, Elodie ; Dogan, Céline ; Bertrand, Alexis ; Geneviève, David ; Péréon, Yann ; Simon, Marie ; Bonnefont, Jean‐Paul ; Bassez, Guillaume ; Gourdon, GenevièveHuman mutation, 2018-07, Vol.39 (7), p.970-982 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
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The myotonic dystrophies: molecular, clinical, and therapeutic challengesUdd, Bjarne, Dr ; Krahe, Ralf, DrLancet neurology, 2012-10, Vol.11 (10), p.891-905 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanismsMeola, Giovanni ; Cardani, RosannaBiochimica et biophysica acta. Molecular basis of disease, 2015-04, Vol.1852 (4), p.594-606 [Periódico revisado por pares]Elsevier B.VTexto completo disponível |
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Myotonic DystrophyThornton, Charles A., MDNeurologic clinics, 2014-08, Vol.32 (3), p.705-719 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Targeting nuclear RNA for in vivo correction of myotonic dystrophyWHEELER, Thurman M ; LEGER, Andrew J ; PANDEY, Sanjay K ; MACLEOD, A. Robert ; NAKAMORI, Masayuki ; CHENG, Seng H ; WENTWORTH, Bruce M ; BENNETT, C. Frank ; THORNTON, Charles ANature (London), 2012-08, Vol.488 (7409), p.111-115 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Splicing biomarkers of disease severity in myotonic dystrophyNakamori, Masayuki ; Sobczak, Krzysztof ; Puwanant, Araya ; Welle, Steve ; Eichinger, Katy ; Pandya, Shree ; Dekdebrun, Jeannne ; Heatwole, Chad R. ; McDermott, Michael P. ; Chen, Tian ; Cline, Melissa ; Tawil, Rabi ; Osborne, Robert J. ; Wheeler, Thurman M. ; Swanson, Maurice S. ; Moxley III, Richard T. ; Thornton, Charles A.Annals of neurology, 2013-12, Vol.74 (6), p.862-872 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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RNA toxicity in non‐coding repeat expansion disordersSwinnen, Bart ; Robberecht, Wim ; Van Den Bosch, LudoThe EMBO journal, 2020-01, Vol.39 (1), p.e101112-n/a [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9Pinto, Belinda S. ; Saxena, Tanvi ; Oliveira, Ruan ; Méndez-Gómez, Héctor R. ; Cleary, John D. ; Denes, Lance T. ; McConnell, Ona ; Arboleda, Juan ; Xia, Guangbin ; Swanson, Maurice S. ; Wang, Eric T.Molecular cell, 2017-11, Vol.68 (3), p.479-490.e5 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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RNA therapeutics: beyond RNA interference and antisense oligonucleotidesKole, Ryszard ; Krainer, Adrian R ; Altman, SidneyNature reviews. Drug discovery, 2012-02, Vol.11 (2), p.125-140 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and miceKlein, Arnaud F ; Varela, Miguel A ; Arandel, Ludovic ; Holland, Ashling ; Naouar, Naira ; Arzumanov, Andrey ; Seoane, David ; Revillod, Lucile ; Bassez, Guillaume ; Ferry, Arnaud ; Jauvin, Dominic ; Gourdon, Genevieve ; Puymirat, Jack ; Gait, Michael J ; Furling, Denis ; Wood, Matthew JaThe Journal of clinical investigation, 2019-11, Vol.129 (11), p.4739-4744 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |