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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: van de warrenburg b, van gaalen j, van velzen gaj. 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.
Movement disorders in spinocerebellar ataxias.
van Gaalen J, Giunti P, van de Warrenburg BP. van Gaalen J, et al. Among authors: van de warrenburg bp. Mov Disord. 2011 Apr;26(5):792-800. doi: 10.1002/mds.23584. Epub 2011 Mar 2. Mov Disord. 2011. PMID: 21370272 Review.
A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.
van Gaalen J, Vermeer S, van Veluw M, van de Warrenburg BP, Dooijes D. van Gaalen J, et al. Among authors: van veluw m, van de warrenburg bp. Mov Disord. 2013 Nov;28(13):1902-3. doi: 10.1002/mds.25572. Epub 2013 Jul 12. Mov Disord. 2013. PMID: 23853068 No abstract available.
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O. van de Warrenburg BP, et al. Among authors: van gaalen j. Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13. Eur J Neurol. 2014. PMID: 24418350
Language impairment in cerebellar ataxia.
van Gaalen J, de Swart BJ, Oostveen J, Knuijt S, van de Warrenburg BP, Kremer BH. van Gaalen J, et al. Among authors: van de warrenburg bp. Mov Disord. 2014 Sep;29(10):1307-12. doi: 10.1002/mds.25854. Epub 2014 Mar 6. Mov Disord. 2014. PMID: 24604523
60 results