Andrea H. Németh
机构:National Health Service, Nuffield Orthopaedic Centre, University of Oxford, Oxford BioMedica (United Kingdom), Oxford University Hospitals NHS Trust · ORCID:0000-0002-2941-7657
发表论文 211 篇 · 总被引 12534 次 · h-index 56
代表论文
- Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis (2023 · Brain · 被引 74)
- Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers (2023 · The Cerebellum · 被引 66)
- Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation (2023 · Nature Communications · 被引 43)
- Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease (2024 · Brain · 被引 29)
- Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance (2023 · The Cerebellum · 被引 22)
- Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers (2023 · The Cerebellum · 被引 20)