Andrea H. Németh

National Health Service — United Kingdom

Neuroscience · Life Sciences

55h-index11.9kcitations213works5.42yr avg
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Research Topics

Genetic Neurodegenerative Diseases(59), Mitochondrial Function and Pathology(42), Genomics and Rare Diseases(37), Neurological disorders and treatments(19), Genetics and Neurodevelopmental Disorders(18)

Publications194 total

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
The American Journal of Human Genetics·2025Open Access
Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T&gt;C) in Regulator of G-protein Signaling 9 ( <i>RGS9</i> )
Ophthalmic Genetics·2025
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers
The Cerebellum·2025· 1 citedOpen Access
Heterozygous <i>RAB3A</i> variants cause cerebellar ataxia by a partial loss-of-function mechanism
Brain·2025· 4 cited
A Multicentre Prospective Longitudinal Study of Novel Imaging Biomarkers in FRDA
SSRN Electronic Journal·2025Open Access
The effect of different interfaces during virtual game practice on motor performance of individuals with genetic ataxia: A cross-sectional study
PLoS ONE·2024· 1 citedOpen Access
#CC-Paper-03 Clinical and electrophysiological phenotype in probands with homozygous variant, c.895T&gt;C, in <i>RGS9</i>
2024Open Access
Neuropathy target esterase activity defines phenotypes among <i>PNPLA6</i> disorders
Brain·2024· 7 citedOpen Access
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
The American Journal of Human Genetics·2024· 15 citedOpen Access
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Brain·2024· 26 citedOpen Access
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers
The Cerebellum·2023· 17 citedOpen Access
Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design
Movement Disorders·2023· 13 citedOpen Access
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers
The Cerebellum·2023· 58 citedOpen Access
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Genome Medicine·2023· 64 citedOpen Access
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
Genetics in Medicine·2023· 4 citedOpen Access
Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders
2023· 1 citedOpen Access
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers
The Cerebellum·2023· 17 citedOpen Access
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic Variants
Neurology·2023· 3 citedOpen Access
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance
The Cerebellum·2023· 20 citedOpen Access
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
The Cerebellum·2023· 12 citedOpen Access
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Frequent Co-authors

Edit I. Buzás(7), Barbara W. Sódar(6), Xabier Osteikoetxea(6), Krisztina Pálóczi(5), Katalin Szabó-Taylor(5), Stefano Lise(5), Ágnes Kittel(4), Krisztina V Vukman(4), Éva Pállinger(4), Jenny C. Taylor(4), Gabrielle Rudolf(4), Anthony P. Monaco(4), Andrew R. Webster(4), Susan M. Downes(4), Ricardo Parolin Schnekenberg(4), Sandeep Jayawant(4), Jiannis Ragoussis(4), Penny Clouston(4), Jing Yu(4), Christine Tranchant(3)