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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: magri s. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Correction: Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing.
Almomani R, Marchi M, Sopacua M, Lindsey P, Salvi E, de Koning B, Santoro S, Magri S, Smeets HJM, Boneschi FM, Malik RA, Ziegler D, Hoeijmakers JGJ, Bönhof G, Dib-Hajj S, Waxman SG, Merkies ISJ, Lauria G, Faber CG, Gerrits MM; on behalf on the PROPANE Study Group. Almomani R, et al. Among authors: magri s. PLoS One. 2021 Mar 2;16(3):e0248250. doi: 10.1371/journal.pone.0248250. eCollection 2021. PLoS One. 2021. PMID: 33651841 Free PMC article.
142 results