Paola Giunti

University College Hospital — United Kingdom

Neuroscience · Life Sciences

68h-index14.9kcitations341works2.82yr avg
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Research Topics

Genetic Neurodegenerative Diseases(255), Mitochondrial Function and Pathology(192), Parkinson's Disease Mechanisms and Treatments(44), Neurological disorders and treatments(42), DNA Repair Mechanisms(35)

Publications336 total

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
The American Journal of Human Genetics·2025Open Access
The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort
CNS Drugs·2025Open Access
Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the <scp>EFACTS</scp> Study
Movement Disorders·2025Open Access
Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3
International Journal of Molecular Sciences·2025Open Access
Progress and challenges in sporadic late-onset cerebellar ataxias
Nature Reviews Neurology·2025· 1 cited
234PLong-term use of omaveloxolone in patients with Friedreich ataxia: up to 5 years of natural history propensity score matching from the MOXIe OLE
Neuromuscular Disorders·2025
Vestibular Loss and Cerebellar Ataxia: A Practical Approach
Ear and Hearing·2025Open Access
Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary
Future Neurology·2025Open Access
Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis
Acta Neuropathologica Communications·2025· 1 citedOpen Access
Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort
The Lancet Regional Health - Europe·2025· 3 citedOpen Access
Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology
Movement Disorders·2025· 1 citedOpen Access
The organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria
BMC Health Services Research·2025Open Access
The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort
2025Open Access
GAD antibodies in neurological disease: a critical evaluation of the utility and treatment implications of GAD antibodies in clinical practice
Journal of Neurology·2025· 6 citedOpen Access
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
2025· 1 citedOpen Access
Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patient-reported data
Heliyon·2025· 1 citedOpen Access
Transcriptomic analysis of repeat expansion-ataxias uncovers distinct non-neuronal cell type-specific signatures of disease across the human brain
2025· 1 citedOpen Access
A Multicentre Prospective Longitudinal Study of Novel Imaging Biomarkers in FRDA
SSRN Electronic Journal·2025Open Access
Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia
Brain Communications·2025· 3 citedOpen Access
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the <scp>EFACTS</scp> natural history study
European Journal of Neurology·2025· 1 citedOpen Access
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Frequent Co-authors

Caterina Mariotti(18), Alexandra Dürr(18), Lüdger Schöls(17), Sylvia Boesch(16), Thomas Klockgether(15), Béla Melegh(13), Maria Rakowicz(13), Bart P.C. van de Warrenburg(12), Nicholas Wood(12), Alessandro Filla(11), Dagmar Timmann(11), Sophie Tézenas du Montcel(10), Jon Infante(10), Alexis Brice(10), Chantal Depondt(9), Rafał Rola(9), Sandra Szymanski(9), Perrine Charles(9), Jörg B. Schulz(9), Giovanni Stévanin(8)