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Year | Number of Results |
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2021 | 1 |
2022 | 2 |
2023 | 2 |
2024 | 2 |
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Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128.
Brain. 2023.
PMID: 37071051
Transcriptional dysregulation has been described in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), an autosomal dominant ataxia caused by a polyglutamine expansion in the ataxin-3 protein. ...
Transcriptional dysregulation has been described in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), an autosomal dom …
Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.
Hübener-Schmid J, Kuhlbrodt K, Peladan J, Faber J, Santana MM, Hengel H, Jacobi H, Reetz K, Garcia-Moreno H, Raposo M, van Gaalen J, Infante J, Steiner KM, de Vries J, Verbeek MM, Giunti P, Pereira de Almeida L, Lima M, van de Warrenburg B, Schöls L, Klockgether T, Synofzik M; European Spinocerebellar Ataxia Type-3/Machado-Joseph Disease Initiative (ESMI) Study Group; Riess O.
Hübener-Schmid J, et al.
Mov Disord. 2021 Nov;36(11):2675-2681. doi: 10.1002/mds.28749. Epub 2021 Aug 16.
Mov Disord. 2021.
PMID: 34397117
BACKGROUND: Spinocerebellar ataxia type 3 is a rare neurodegenerative disease caused by a CAG repeat expansion in the ataxin-3 gene. ...
BACKGROUND: Spinocerebellar ataxia type 3 is a rare neurodegenerative disease caused by a CAG repeat expansion in the ataxin-3 gene. …
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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.
Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27.
Neurobiol Dis. 2024.
PMID: 38423193
Free article.
Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) is a heritable proteinopathy disorder, whose causative gene, ATXN3, undergoes alternative splicing. ...
Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD) is a heritable proteinopathy disorder, whose causative gene, ATXN3, …
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Reply to: "Comment on: Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood".
Hübener-Schmid J, Kuhlbrodt K, Peladan J; European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) Study Group; Rieß O.
Hübener-Schmid J, et al.
Mov Disord. 2022 May;37(5):1121-1122. doi: 10.1002/mds.29003.
Mov Disord. 2022.
PMID: 35587632
No abstract available.
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The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Hengel H, Martus P, Faber J, Giunit 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.
J Neurol. 2023 Feb;270(2):944-952. doi: 10.1007/s00415-022-11441-z. Epub 2022 Nov 2.
J Neurol. 2023.
PMID: 36324033
Free PMC article.
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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.
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.
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