World's Best Scientists 2026 revealed!

D-Index & Metrics

Neuroscience

D-Index
43
Citations
9516
World Ranking
7328
National Ranking
387

Best Publications

  • Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

    Victoria Campuzano;Laura Montermini;Maria Dolores Moltò;Luigi Pianese

  • Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

    Mireille Cossée;A Dürr;M. Schmitt;N Dahl

  • 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

  • The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study

    H. Jacobi;P. Bauer;P. Giunti;R. Labrum

  • Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

    Amila Suraweera;Amila Suraweera;Olivier J. Becherel;Philip Chen;Natalie Rundle

  • Responsiveness of different rating instruments in spinocerebellar ataxia patients.

    T Schmitz-Hübsch;R Fimmers;M Rakowicz;R Rola

  • Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

    Heike Jacobi;Kathrin Reetz;Kathrin Reetz;Sophie Tezenas du Montcel;Peter Bauer

  • Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument.

    H. Jacobi;M. Rakowicz;R. Rola;R. Fancellu

  • 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

  • Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6

    Christoph Globas;Sophie Tezenas du Montcel;Laslo Baliko;Syliva Boesch

  • Clinical and neurological abnormalities in adult celiac disease.

    G Cicarelli;G Della Rocca;M Amboni;C Ciacci

  • SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia.

    T Schmitz-Hübsch;P Giunti;D A Stephenson;C Globas

  • Idiopathic cerebellar ataxia associated with celiac disease: lack of distinctive neurological features

    M. T. Pellecchia;R. Scala;A. Filla;G. De Michele

  • Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.

    Andreas Traschütz;Andrea Cortese;Selina Reich;Selina Reich;Natalia Dominik

  • DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients

    Imma Castaldo;Michele Pinelli;Antonella Monticelli;Fabio Acquaviva

  • Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

    Alhassane Diallo;Heike Jacobi;Arron Cook;Robyn Labrum

  • GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.

    Unknown

  • Self-rated health status in spinocerebellar ataxia--results from a European multicenter study

    Tanja Schmitz-Hübsch;Mathieu Coudert;Paola Giunti;Christoph Globas

  • Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6

    Sophie Tezenas du Montcel;Alexandra Durr;Maria Rakowicz;Lorenzo Nanetti

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