Alessandro Filla

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

  3342
  Citations

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

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

  484
  Citations

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

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

  309
  Citations

• 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

  300
  Citations

• 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

  241
  Citations

• 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

  217
  Citations

• Responsiveness of different rating instruments in spinocerebellar ataxia patients.

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

  210
  Citations

• 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

  205
  Citations

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

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

  199
  Citations

• 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

  194
  Citations

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

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

  192
  Citations

• Clinical and neurological abnormalities in adult celiac disease.

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

  180
  Citations

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

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

  165
  Citations

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

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

  161
  Citations

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

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

  149
  Citations

• 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

  137
  Citations

• 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

  128
  Citations

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

  Unknown

  125
  Citations

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

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

  122
  Citations

• 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

  118
  Citations