World's Best Scientists 2026 revealed!

D-Index & Metrics

Biology and Biochemistry

D-Index
68
Citations
15941
World Ranking
7821
National Ranking
604

Overview

Paola Giunti is a researcher affiliated with University College London in the United Kingdom. Their research primarily focuses on the investigation of genetic neurodegenerative diseases, mitochondrial function and pathology, and neurological disorders and treatments. The scope of their work spans multiple fields including biochemistry, genetics and molecular biology, neuroscience, and medicine, with significant specialization in molecular biology, cellular and molecular neuroscience, and neurology.

Their recent scholarly contributions include studies published in various prominent venues. Notable papers are: "Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)" (2020, Annals of Neurology), "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion" (2020, Brain), "Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice" (2020, EMBO Molecular Medicine), "Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension" (2022, Movement Disorders), and "Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study" (2021, The Lancet Neurology).

Their frequent coauthors include:

  • Héctor García-Moreno
  • Lüdger Schöls
  • Kathrin Reetz
  • Thomas Klockgether
  • Jennifer Faber

The researcher has contributed extensively to journals such as:

  • Movement Disorders
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Orphanet Journal of Rare Diseases
  • The Cerebellum
  • Brain

Paola Giunti's work is established within main fields of study that include:

  • Biochemistry, Genetics and Molecular Biology
  • Neuroscience
  • Medicine

The subfields of study related to their research are:

  • Molecular Biology
  • Cellular and Molecular Neuroscience
  • Neurology
  • Genetics
  • Physiology

The primary topics of their research activity address:

  • Genetic Neurodegenerative Diseases
  • Mitochondrial Function and Pathology
  • Parkinson's Disease Mechanisms and Treatments
  • Neurological disorders and treatments
  • DNA Repair Mechanisms
  • Amyotrophic Lateral Sclerosis Research
  • Genomics and Rare Diseases

Best Publications

  • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

    Gilles David;Nacer Abbas;Giovanni Stevanin;Alexandra Dürr

  • Diagnosis and treatment of Friedreich ataxia: a European perspective

    Jörg B. Schulz;Sylvia Boesch;Katrin Bürk;Alexandra Dürr

  • Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

    Joyce Van De Leemput;Jayanth Chandran;Jayanth Chandran;Melanie A. Knight;Lynne A. Holtzclaw

  • Spinocerebellar ataxia types 1, 2, 3, and 6 Disease severity and nonataxia symptoms

    T Schmitz-Hübsch;M Coudert;Peter Bauer;P Giunti

  • Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

    Heike Jacobi;Sophie Tezenas du Montcel;Peter Bauer;Paola Giunti

  • DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.

    Conceição Bettencourt;Davina Hensman‐Moss;Michael Flower;Sarah Wiethoff

  • Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: A cross-sectional analysis of baseline data

    Kathrin Reetz;Imis Dogan;Imis Dogan;Ana S Costa;Manuel Dafotakis

  • Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients

    Tanja T. Schmitz-Hübsch;Sophie Tezenas S.T. du Montcel;Laszlo L. Baliko;Sylvia S. Boesch

  • Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

    Sophie Tezenas Du Montcel;Sophie Tezenas Du Montcel;Alexandra Durr;Peter Bauer;Karla P. Figueroa

  • Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

    P.F. Worth;P. Giunti;C. Gardner-Thorpe;P.H. Dixon

  • Friedreich's ataxia: clinical features, pathogenesis and management.

    A Cook;P Giunti

  • Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

    C. Gaspar;C. Gaspar;I. Lopes-Cendes;S. Hayes;J. Goto

  • Inhibition of LRRK2 kinase activity stimulates macroautophagy

    Claudia Manzoni;Adamantios Mamais;Sybille Dihanich;Rosella Abeti

  • Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

    Vincenzo Libri;Vincenzo Libri;Cihangir Yandim;Stavros Athanasopoulos;Naomi Loyse

  • Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

    Charles A Galea;Aamira Huq;Paul J Lockhart;Geneieve Tai

  • Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.

    Paul F. Worth;Henry Houlden;Paola Giunti;Mary B. Davis

  • Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

    Jodice C;Malaspina P;Persichetti F;Novelletto A

  • Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich's Ataxia Models.

    Rosella Abeti;Annalisa Baccaro;Noemi Esteras;Paola Giunti

  • De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7

    Giovanni Stevanin;Paola Giunti;Gilles David;Samir Belal

  • The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

    P Giunti;G Sabbadini;Mg Sweeney;Mb Davis

Frequent Co-Authors

Nicholas W. Wood
Nicholas W. Wood University College London
Alexandra Durr
Alexandra Durr Sorbonne University
Thomas Klockgether
Thomas Klockgether German Center for Neurodegenerative Diseases
Massimo Pandolfo
Massimo Pandolfo McGill University
Ludger Schöls
Ludger Schöls University of Tübingen
Sylvia Boesch
Sylvia Boesch Innsbruck Medical University
Henry Houlden
Henry Houlden University College London
Jörg B. Schulz
Jörg B. Schulz RWTH Aachen University
Alexis Brice
Alexis Brice Institut du Cerveau
Dagmar Timmann
Dagmar Timmann University of Duisburg-Essen

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring Biology and Biochemistry can open doors to a variety of online degrees and health-related careers in the USA. Students interested in entering the healthcare workforce may consider starting with an online medical assisting school. This flexible option allows for foundational healthcare training and can often be completed quickly, making it a popular choice for career changers or those seeking entry-level roles.

For those wishing to advance their clinical skills further, enrolling in a medical assistant to lpn bridge program is a logical next step. These programs streamline the path from medical assistant to Licensed Practical Nurse (LPN), increasing both responsibilities and earning potential.

If you're interested in broader scientific fields, pursuing an online bachelor's degree in biology offers flexibility and can prepare you for advanced studies or diverse careers—including research, teaching, or healthcare.

Lastly, those aiming for a hands-on nursing role may choose an online asn program. These degrees fit well for those seeking RN licensure and careers in direct patient care, blending science with compassionate service.

Best Scientists Citing Paola Giunti

Trending Scientists

Recently Published Articles