Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,301 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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: faber j. Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27. Neurobiol Dis. 2024. PMID: 38423193 Free article.
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Santana MM, Gaspar LS, Pinto MM, Silva P, Adão D, Pereira D, Ribeiro JA, Cunha I, Huebener-Schmid J, Raposo M, Ferreira AF, Faber J, Kuhs S, Garcia-Moreno H, Reetz K, Thieme A, Infante J, van de Warrenburg BPC, Giunti P, Riess O, Schöls L, Lima M, Klockgether T, Januário C, de Almeida LP; European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative Study Group. Santana MM, et al. Among authors: faber j. Neuropathol Appl Neurobiol. 2023 Apr;49(2):e12892. doi: 10.1111/nan.12892. Neuropathol Appl Neurobiol. 2023. PMID: 36798010 Free PMC article.
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Raposo M, Hübener-Schmid J, 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; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Among authors: faber j. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
Wilke C, Haas E, Reetz K, Faber J, Garcia-Moreno H, Santana MM, van de Warrenburg B, Hengel H, Lima M, Filla A, Durr A, Melegh B, Masciullo M, Infante J, Giunti P, Neumann M, de Vries J, Pereira de Almeida L, Rakowicz M, Jacobi H, Schüle R, Kaeser SA, Kuhle J, Klockgether T, Schöls L; SCA3 neurofilament study group; Barro C, Hübener-Schmid J, Synofzik M. Wilke C, et al. Among authors: faber j. EMBO Mol Med. 2020 Jul 7;12(7):e11803. doi: 10.15252/emmm.201911803. Epub 2020 Jun 8. EMBO Mol Med. 2020. PMID: 32510847 Free PMC article.
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. Among authors: faber j. Mov Disord. 2021 Nov;36(11):2675-2681. doi: 10.1002/mds.28749. Epub 2021 Aug 16. Mov Disord. 2021. PMID: 34397117
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.
Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, Januário C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, Hübener-Schmid J, Synofzik M, Schöls L. Hengel H, et al. Among authors: faber j. Mov Disord. 2022 Feb;37(2):405-410. doi: 10.1002/mds.28844. Epub 2021 Oct 29. Mov Disord. 2022. PMID: 34713931
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.
Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januário C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schöls L, Synofzik M, Hübener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P. Garcia-Moreno H, et al. Among authors: faber j. Eur J Neurol. 2022 Aug;29(8):2439-2452. doi: 10.1111/ene.15373. Epub 2022 May 26. Eur J Neurol. 2022. PMID: 35478426 Free PMC article.
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.
Maas RPPWM, Teerenstra S, Lima M, Pires P, Pereira de Almeida L, van Gaalen J, Timmann D, Infante J, Onyike C, Bushara K, Jacobi H, Reetz K, Santana MM, Afonso Ribeiro J, Hübener-Schmid J, de Vries JJ, Synofzik M, Schöls L, Garcia-Moreno H, Giunti P, Faber J, Klockgether T, van de Warrenburg BPC. Maas RPPWM, et al. Among authors: faber j. Mov Disord. 2022 Sep;37(9):1850-1860. doi: 10.1002/mds.29135. Epub 2022 Jul 8. Mov Disord. 2022. PMID: 35808813 Free PMC article.
Stage-dependent biomarker changes in spinocerebellar ataxia type 3.
Faber J, Berger M, Carlo W, Hübener-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, Jeroen, Oz G, Joers JM, Synofzik M, Schöls 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. medRxiv [Preprint]. 2023 Apr 25:2023.04.21.23287817. doi: 10.1101/2023.04.21.23287817. medRxiv. 2023. PMID: 37163081 Free PMC article. Updated. Preprint.
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. Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5. Ann Neurol. 2024. PMID: 37962377
1,301 results