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Page 1
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, de michele g, de bot st. 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.
Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients.
Schmitz-Hübsch T, Tezenas du Montcel S, Baliko L, Boesch S, Bonato S, Fancellu R, Giunti P, Globas C, Kang JS, Kremer B, Mariotti C, Melegh B, Rakowicz M, Rola R, Romano S, Schöls L, Szymanski S, van de Warrenburg BP, Zdzienicka E, Dürr A, Klockgether T. Schmitz-Hübsch T, et al. Among authors: van de warrenburg bp. Mov Disord. 2006 May;21(5):699-704. doi: 10.1002/mds.20781. Mov Disord. 2006. PMID: 16450347
SPG10 is a rare cause of spastic paraplegia in European families.
Schüle R, Kremer BP, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg BP, Schöls L. Schüle R, et al. Among authors: van de warrenburg bp. J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi: 10.1136/jnnp.2007.137596. Epub 2008 Feb 1. J Neurol Neurosurg Psychiatry. 2008. PMID: 18245137 Free article.
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.
Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Among authors: van de warrenburg bp. Neurology. 2008 Sep 23;71(13):982-9. doi: 10.1212/01.wnl.0000325057.33666.72. Epub 2008 Aug 6. Neurology. 2008. PMID: 18685131 Free article.
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Globas C, du Montcel ST, Baliko L, Boesch S, Depondt C, DiDonato S, Durr A, Filla A, Klockgether T, Mariotti C, Melegh B, Rakowicz M, Ribai P, Rola R, Schmitz-Hubsch T, Szymanski S, Timmann D, Van de Warrenburg BP, Bauer P, Schols L. Globas C, et al. Among authors: van de warrenburg bp. Mov Disord. 2008 Nov 15;23(15):2232-8. doi: 10.1002/mds.22288. Mov Disord. 2008. PMID: 18759344
[From psychiatric symptoms to paraneoplastic syndrome].
de Bot ST, Dorresteijn LD, Haaxma CA, Kappelle AC, van de Warrenburg BP. de Bot ST, et al. Among authors: van de warrenburg bp. Tijdschr Psychiatr. 2008;50(9):603-9. Tijdschr Psychiatr. 2008. PMID: 18785107 Free article. Dutch.
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.
Schulz JB, Borkert J, Wolf S, Schmitz-Hübsch T, Rakowicz M, Mariotti C, Schöls L, Timmann D, van de Warrenburg B, Dürr A, Pandolfo M, Kang JS, Mandly AG, Nägele T, Grisoli M, Boguslawska R, Bauer P, Klockgether T, Hauser TK. Schulz JB, et al. Among authors: van de warrenburg b. Neuroimage. 2010 Jan 1;49(1):158-68. doi: 10.1016/j.neuroimage.2009.07.027. Epub 2009 Jul 22. Neuroimage. 2010. PMID: 19631275
Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study.
Fonteyn EM, Schmitz-Hübsch T, Verstappen CC, Baliko L, Bloem BR, Boesch S, Bunn L, Charles P, Dürr A, Filla A, Giunti P, Globas C, Klockgether T, Melegh B, Pandolfo M, De Rosa A, Schöls L, Timmann D, Munneke M, Kremer BP, van de Warrenburg BP. Fonteyn EM, et al. Among authors: de rosa a, van de warrenburg bp. Cerebellum. 2010 Jun;9(2):232-9. doi: 10.1007/s12311-010-0155-z. Cerebellum. 2010. PMID: 20157791
384 results