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Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A. Cagnoli C, et al. Among authors: giunti p. J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17. J Mol Diagn. 2018. PMID: 29462666 Free 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: giunti p. Mov Disord. 2006 May;21(5):699-704. doi: 10.1002/mds.20781. Mov Disord. 2006. PMID: 16450347
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: giunti p. 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: giunti p. 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: giunti p. 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: giunti p. Cerebellum. 2012 Mar;11(1):155-66. doi: 10.1007/s12311-011-0292-z. Cerebellum. 2012. PMID: 21701895
The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits.
Stevens JC, Murphy SM, Davagnanam I, Phadke R, Anderson G, Nethisinghe S, Bremner F, Giunti P, Reilly MM. Stevens JC, et al. Among authors: giunti p. J Neurol Neurosurg Psychiatry. 2013 Jan;84(1):114-6. doi: 10.1136/jnnp-2012-303634. Epub 2012 Nov 3. J Neurol Neurosurg Psychiatry. 2013. PMID: 23123642 No abstract available.
Stance instability in spinocerebellar ataxia type 6.
Bunn LM, Marsden JF, Giunti P, Day BL. Bunn LM, et al. Among authors: giunti p. Mov Disord. 2013 Apr;28(4):510-6. doi: 10.1002/mds.25163. Epub 2012 Nov 9. Mov Disord. 2013. PMID: 23143967
209 results