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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: doss 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.
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.
Schmitz-Hübsch T, Lux S, Bauer P, Brandt AU, Schlapakow E, Greschus S, Scheel M, Gärtner H, Kirlangic ME, Gras V, Timmann D, Synofzik M, Giorgetti A, Carloni P, Shah JN, Schöls L, Kopp U, Bußenius L, Oberwahrenbrock T, Zimmermann H, Pfueller C, Kadas EM, Rönnefarth M, Grosch AS, Endres M, Amunts K, Paul F, Doss S, Minnerop M. Schmitz-Hübsch T, et al. Among authors: doss s. Ann Clin Transl Neurol. 2021 Apr;8(4):774-789. doi: 10.1002/acn3.51315. Epub 2021 Mar 19. Ann Clin Transl Neurol. 2021. PMID: 33739604 Free PMC article.
Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14.
Ihl T, Kadas EM, Oberwahrenbrock T, Endres M, Klockgether T, Schroeter J, Brandt AU, Paul F, Minnerop M, Doss S, Schmitz-Hübsch T, Zimmermann HG. Ihl T, et al. Among authors: doss s. Cerebellum. 2020 Aug;19(4):469-482. doi: 10.1007/s12311-020-01130-w. Cerebellum. 2020. PMID: 32338350 Free PMC article.
Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1.
Grosch AS, Rinnenthal JL, Rönnefarth M, Lux S, Scheel M, Endres M, Brandt AU, Paul F, Schmitz-Hübsch T, Minnerop M, Doss S. Grosch AS, et al. Among authors: doss s. Cerebellum. 2021 Apr;20(2):169-178. doi: 10.1007/s12311-020-01201-y. Epub 2020 Oct 15. Cerebellum. 2021. PMID: 33063293 Free PMC article.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium; Synofzik M. Traschütz A, et al. Among authors: doss s. Ann Neurol. 2023 Sep;94(3):470-485. doi: 10.1002/ana.26712. Epub 2023 Jun 12. Ann Neurol. 2023. PMID: 37243847
Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial.
Feil K, Adrion C, Boesch S, Doss S, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Steiner KM, Stendel C, Timmann D, Naumann I, Mansmann U, Strupp M; ALCAT Study Group. Feil K, et al. Among authors: doss s. JAMA Netw Open. 2021 Dec 1;4(12):e2135841. doi: 10.1001/jamanetworkopen.2021.35841. JAMA Netw Open. 2021. PMID: 34905009 Free PMC article. Clinical Trial.
Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1.
Oertel FC, Zeitz O, Rönnefarth M, Bereuter C, Motamedi S, Zimmermann HG, Kuchling J, Grosch AS, Doss S, Browne A, Paul F, Schmitz-Hübsch T, Brandt AU. Oertel FC, et al. Among authors: doss s. Mov Disord Clin Pract. 2020 May 6;7(5):502-508. doi: 10.1002/mdc3.12949. eCollection 2020 Jul. Mov Disord Clin Pract. 2020. PMID: 32626794 Free PMC article.
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA. Hendriksz CJ, et al. Among authors: doss s. Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Curr Med Res Opin. 2017. PMID: 28276873 Free article. Review.
146 results