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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: boesch 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.
The natural history of degenerative ataxia: a retrospective study in 466 patients.
Klockgether T, Lüdtke R, Kramer B, Abele M, Bürk K, Schöls L, Riess O, Laccone F, Boesch S, Lopes-Cendes I, Brice A, Inzelberg R, Zilber N, Dichgans J. Klockgether T, et al. Among authors: boesch s. Brain. 1998 Apr;121 ( Pt 4):589-600. doi: 10.1093/brain/121.4.589. Brain. 1998. PMID: 9577387
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: boesch s. 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: boesch s. 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: boesch s. 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.
Diagnosis and treatment of Friedreich ataxia: a European perspective.
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Schulz JB, et al. Among authors: boesch s. Nat Rev Neurol. 2009 Apr;5(4):222-34. doi: 10.1038/nrneurol.2009.26. Nat Rev Neurol. 2009. PMID: 19347027 Review.
Self-rated health status in spinocerebellar ataxia--results from a European multicenter study.
Schmitz-Hübsch T, Coudert M, Giunti P, Globas C, Baliko L, Fancellu R, Mariotti C, Filla A, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Schulz JB, Klopstock T, Melegh B, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Among authors: boesch s. Mov Disord. 2010 Apr 15;25(5):587-95. doi: 10.1002/mds.22740. Mov Disord. 2010. PMID: 20175183
Depression comorbidity in spinocerebellar ataxia.
Schmitz-Hübsch T, Coudert M, Tezenas du Montcel S, Giunti P, Labrum R, Dürr A, Ribai P, Charles P, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Fancellu R, Mariotti C, Baliko L, Melegh B, Filla A, Salvatore E, van de Warrenburg BP, Szymanski S, Infante J, Timmann D, Boesch S, Depondt C, Kang JS, Schulz JB, Klopstock T, Lossnitzer N, Löwe B, Frick C, Rottländer D, Schlaepfer TE, Klockgether T. Schmitz-Hübsch T, et al. Among authors: boesch s. Mov Disord. 2011 Apr;26(5):870-6. doi: 10.1002/mds.23698. Epub 2011 Mar 21. Mov Disord. 2011. PMID: 21437988
Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings.
Jacobi H, Hauser TK, Giunti P, Globas C, Bauer P, Schmitz-Hübsch T, 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, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, Tezenas du Montcel S, Borkert J, Schulz JB, Klockgether T. Jacobi H, et al. Among authors: boesch s. Cerebellum. 2012 Mar;11(1):155-66. doi: 10.1007/s12311-011-0292-z. Cerebellum. 2012. PMID: 21701895
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.
Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T. Jacobi H, et al. Among authors: boesch s. Neurology. 2011 Sep 13;77(11):1035-41. doi: 10.1212/WNL.0b013e31822e7ca0. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832228 Free PMC article.
205 results