Publications
Information about journal articles, updated at 29-03-2026, from platform CIÊNCIAVITAE.
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort
Berger, Moritz; Garcia-Moreno, Hector; Ferreira, Mónica; Hubener-Schmid, Jeannette; Schaprian, Tamara; Wegner, Philipp; Elter, Tim; et al, The Lancet Regional Health - Europe. 55. 2025. https://doi.org/10.1016/j.lanepe.2025.101339 . 10.1016/j.lanepe.2025.101339 . published The Lancet Regional Health - Europe
The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort
Silva, Patrick; Costa, Marina A.; Gaspar, Laetitia; Durães, João; Cunha, Inês; Ribeiro, Joana A; Januário, Cristina; et al, CNS Drugs. 233 - 246. 2. 40. 2025. https://doi.org/10.1007/s40263-025-01237-w . 10.1007/s40263-025-01237-w . published CNS Drugs
Circadian rhythms are disrupted in patients and preclinical models of Machado-Joseph disease
Rodrigo F N Ribeiro; Dina Pereira; Sara M Lopes; Tiago Reis; Patrick Silva; Diana D Lobo; Laetitia S Gaspar; et al, Brain. 2025. https://doi.org/10.1093/brain/awaf199 . 10.1093/brain/awaf199 . Brain
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
Elter, Tim Lukas; Sturm, Daniel; Santana, Magda M.; Schaprian, Tamara; Raposo, Mafalda; Melo, Ana Rosa Vieira; Lima, Manuela; et al, Journal of Neurology. 1. 272. 2024. https://doi.org/10.1007/s00415-024-12829-9 . 10.1007/s00415-024-12829-9 . published Journal of Neurology
Correction to: The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunti, Paola; Garcia-Moreno, Hector; Solanky, Nita; Klockgether, Thomas; et al, Journal of Neurology. 628 - 629. 1. 271. 2023. http://dx.doi.org/10.1007/s00415-023-12064-8 . 10.1007/s00415-023-12064-8 . Journal of Neurology
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3
Faber, Jennifer; Berger, Moritz; Wilke, Carlo; Hübener-Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M; Grobe-Einsler, Marcus; et al, Annals of Neurology. 400 - 406. 2. 95. 2023. published Annals of Neurology
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3
Raposo, Mafalda; Hübener-Schmid, Jeannette; Ferreira, Ana F; Vieira Melo, Ana Rosa; Vasconcelos, João; Pires, Paula; Kay, Teresa; et al, Brain. 2023. http://dx.doi.org/10.1093/brain/awad128 . 10.1093/brain/awad128 . Brain
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia
Santana, Magda M.; Gaspar, Laetitia S.; Pinto, Maria M.; Silva, Patrick; Adão, Diana; Pereira, Dina; Ribeiro, Joana Afonso; et al, Neuropathology and Applied Neurobiology. 2. 49. 2023. http://dx.doi.org/10.1111/nan.12892 . 10.1111/nan.12892 . published Neuropathology and Applied Neurobiology
The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunit, Paola; Garcia-Moreno, Hector; Solanky, Nita; Klockgether, Thomas; et al, Journal of Neurology. 944 - 952. 2. 270. 2022. http://dx.doi.org/10.1007/s00415-022-11441-z . 10.1007/s00415-022-11441-z . Journal of Neurology
The autophagy-enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado–Joseph disease
Ana Vasconcelos-Ferreira; Sara Carmo-Silva; José Miguel Codêsso; Patrick Silva; Alberto Rolim Muro Martinez; Marcondes Cavalcante França Jr; Clévio Nóbrega; Luís Pereira de Almeida, Neuropathology and Applied Neurobiology. 2022. https://doi.org/10.1111/nan.12763 . 10.1111/nan.12763 . Neuropathology and Applied Neurobiology
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity
Hengel, Holger; Martus, Peter; Faber, Jennifer; Garcia-Moreno, Hector; Solanky, Nita; Giunti, Paola; Klockgether, Thomas; et al, Movement Disorders. 405 - 410. 2. 37. 2021. http://dx.doi.org/10.1002/mds.28844 . 10.1002/mds.28844 . published Movement Disorders
5 11 out of 11 Publications
All projects
Information of exclusive responsibility of the researcher 29-03-2026 , from platform CIÊNCIAVITAE.
2023/03/01 - 2024/08/31
From “bedside-to-bench” biomarker discovery: on the road to a clinical trial for Machado-Joseph Disease
2022.06118.PTDC
Universidade de Coimbra
Funders: Fundação para a Ciência e a Tecnologia
2020/04 - 2020/07
Covid-19 Lab @ CNC / ViraVector
na
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular
2019/01/01 - 2019/12/31
CNC. IBILI
UID/NEU/04539/2019
Universidade de Coimbra Centro de Neurociências e Biologia Celular; Universidade de Coimbra; Universidade de Coimbra Instituto de Ciências Nucleares Aplicadas à Saúde; Universidade de Coimbra Instituto de Investigação Clínica e Biomédica de Coimbra
Funders: Fundação para a Ciência e a Tecnologia
2019/10/01 - 2023/09/30
Finding a blood-based biomarker for Machado-Joseph Disease: an integrated approach
SFRH/BD/148451/2019
PhD Student Fellow
Centro de Neurociências e Biologia Celular
Funders: Fundação para a Ciência e a Tecnologia
2018/04/16 - 2019/09/30
JPND European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
info:eu-repo/grantAgreement/RCUK/MRC/MR2%FN0287672%F1/GB
Research Fellow
CNC.IBILI
Funders: UK Research and Innovation
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