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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: bauer p. 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.
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: bauer p. Neurology. 2011 Sep 13;77(11):1035-41. doi: 10.1212/WNL.0b013e31822e7ca0. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832228 Free PMC article.
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
Weber JJ, Czisch L, Pereira Sena P, Fath F, Huridou C, Schwarz N, Incebacak Eltemur RD, Würth A, Weishäupl D, Döcker M, Blumenstock G, Martins S, Sequeiros J, Rouleau GA, Jardim LB, Saraiva-Pereira ML, França MC Jr, Gordon CR, Zaltzman R, Cornejo-Olivas MR, van de Warrenburg BPC, Durr A, Brice A, Bauer P, Klockgether T, Schöls L, Riess O; EUROSCA Network; Schmidt T. Weber JJ, et al. Among authors: bauer p. Acta Neuropathol. 2024 Aug 1;148(1):14. doi: 10.1007/s00401-024-02762-6. Acta Neuropathol. 2024. PMID: 39088078 Free PMC article.
Putamen dopamine transporter and glucose metabolism are reduced in SCA17.
Minnerop M, Joe A, Lutz M, Bauer P, Urbach H, Helmstaedter C, Reinhardt M, Klockgether T, Wüllner U. Minnerop M, et al. Among authors: bauer p. Ann Neurol. 2005 Sep;58(3):490-1. doi: 10.1002/ana.20609. Ann Neurol. 2005. PMID: 16130104 No abstract available.
Autosomal dominant Parkinson's disease in a large German pedigree.
Brüggemann N, Külper W, Hagenah J, Bauer P, Pattaro C, Tadic V, Lohnau T, Winkler S, Tönnies H, Sprenger A, Pramstaller P, Rolfs A, Siebert R, Riess O, Vieregge P, Lohmann K, Klein C. Brüggemann N, et al. Among authors: bauer p. Acta Neurol Scand. 2012 Aug;126(2):129-37. doi: 10.1111/j.1600-0404.2011.01621.x. Epub 2011 Nov 23. Acta Neurol Scand. 2012. PMID: 22107061
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J. Uebachs M, et al. Cerebellum. 2024 Jun;23(3):887-895. doi: 10.1007/s12311-023-01546-0. Epub 2023 Mar 31. Cerebellum. 2024. PMID: 37002505 Free PMC article.
1,692 results