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Page 1
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.
Elter TL, Sturm D, Santana MM, Schaprian T, Raposo M, Melo ARV, Lima M, Koyak B, Oender D, Grobe-Einsler M, Lopes S, Silva P, de Almeida LP, Giunti P, Garcia-Moreno H, Nethisinhe S, de Vries J, van de Warrenburg BP, van Gaalen J, Synofzik M, Schöls L, Reetz K, Erdlenbruch F, Jacobi H, Infante J, Riess O, Klockgether T; ESMI study group; Faber J, Hübener-Schmid J. Elter TL, et al. Among authors: garcia moreno h. J Neurol. 2024 Dec 12;272(1):54. doi: 10.1007/s00415-024-12829-9. J Neurol. 2024. PMID: 39666145 Free PMC article.
Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.
Ferreira M, Schaprian T, Kügler D, Reuter M, Deike-Hoffmann K, Timmann D, Ernst TM, Giunti P, Garcia-Moreno H, van de Warrenburg B, van Gaalen J, de Vries J, Jacobi H, Steiner KM, Öz G, Joers JM, Onyike C, Povazan M, Reetz K, Romanzetti S, Klockgether T, Faber J. Ferreira M, et al. Among authors: garcia moreno h. Cerebellum. 2024 Aug;23(4):1530-1531. doi: 10.1007/s12311-024-01681-2. Cerebellum. 2024. PMID: 38446346 Free PMC article. No abstract available.
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Raposo M, Hübener-Schmid J, Tagett R, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L, Riess O; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Costa MDC, Lima M. Raposo M, et al. Among authors: garcia moreno h. Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27. Neurobiol Dis. 2024. PMID: 38423193 Free article.
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.
Ferreira M, Schaprian T, Kügler D, Reuter M, Deike-Hoffmann K, Timmann D, Ernst TM, Giunti P, Garcia-Moreno H, van de Warrenburg B, van Gaalen J, de Vries J, Jacobi H, Steiner KM, Öz G, Joers JM, Onyike C, Povazan M, Reetz K, Romanzetti S, Klockgether T, Faber J. Ferreira M, et al. Among authors: garcia moreno h. Cerebellum. 2024 Aug;23(4):1521-1529. doi: 10.1007/s12311-024-01659-0. Epub 2024 Feb 16. Cerebellum. 2024. PMID: 38363498 Free PMC article.
Cerebellar volumetry in ataxias: Relation to ataxia severity and duration.
Ferreira M, Schaprian T, Kügler D, Reuter M, Deike-Hoffmann K, Timmann D, Ernst TM, Giunti P, Garcia-Moreno H, van de Warrenburg B, van Gaalen J, de Vries J, Jacobi H, Steiner KM, Öz G, Joers JM, Onyike C, Povazan M, Reetz K, Romanzetti S, Klockgether T, Faber J. Ferreira M, et al. Among authors: garcia moreno h. Res Sq [Preprint]. 2023 Nov 16:rs.3.rs-3605029. doi: 10.21203/rs.3.rs-3605029/v1. Res Sq. 2023. Update in: Cerebellum. 2024 Aug;23(4):1521-1529. doi: 10.1007/s12311-024-01659-0 PMID: 38014351 Free PMC article. Updated. Preprint.
Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Hengel H, Martus P, Faber J, Giunti P, Garcia-Moreno H, Solanky N, Klockgether T, Reetz K, van de Warrenburg BP, Santana MM, Silva P, Cunha I, de Almeida LP, Timmann D, Infante J, de Vries J, Lima M, Pires P, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M; European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group; Schöls L. Hengel H, et al. Among authors: garcia moreno h. J Neurol. 2024 Jan;271(1):628-629. doi: 10.1007/s00415-023-12064-8. J Neurol. 2024. PMID: 37979094 Free PMC article. No abstract available.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Faber J, Berger M, Wilke C, Hubener-Schmid J, Schaprian T, Santana MM, Grobe-Einsler M, Onder D, Koyak B, Giunti P, Garcia-Moreno H, Gonzalez-Robles C, Lima M, Raposo M, Melo ARV, de Almeida LP, Silva P, Pinto MM, van de Warrenburg BP, van Gaalen J, de Vries J, Oz G, Joers JM, Synofzik M, Schols L, Riess O, Infante J, Manrique L, Timmann D, Thieme A, Jacobi H, Reetz K, Dogan I, Onyike C, Povazan M, Schmahmann J, Ratai EM, Schmid M, Klockgether T. Faber J, et al. Among authors: garcia moreno h. Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5. Ann Neurol. 2024. PMID: 37962377
47 results