Perrine Charles

Best Publications

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

  Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  570
  Citations

• Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

  Giovanni Stevanin;Filippo M. Santorelli;Hamid Azzedine;Hamid Azzedine;Paula Coutinho

  401
  Citations

• Negative regulation of central nervous system myelination by polysialylated-neural cell adhesion molecule

  P. Charles;M. P. Hernandez;B. Stankoff;M. S. Aigrot

  365
  Citations

• Neurofascin Is a Glial Receptor for the Paranodin/Caspr-Contactin Axonal Complex at the Axoglial Junction

  Perrine Charles;Steven Tait;Catherine Faivre-Sarrailh;Gilles Barbin

  351
  Citations

• Re‐expression of PSA‐NCAM by demyelinated axons: an inhibitor of remyelination in multiple sclerosis?

  Perrine Charles;Richard Reynolds;Danielle Seilhean;Geneviève Rougon

  335
  Citations

• Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.

  Fanny Mochel;Perrine Charles;François Seguin;Julie Barritault

  312
  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

• Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

  M. Anheim;B. Monga;B. Monga;M. Fleury;P. Charles

  274
  Citations

• Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

  Elizabeth Berry-Kravis;Vincent Des Portes;Vincent Des Portes;Randi J Hagerman;Sébastien Jacquemont

  265
  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

• 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

  232
  Citations

• Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism

  P. Charles;A. Camuzat;N. Benammar;F. Sellal

  209
  Citations

• Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

  Ashley L. Lennox;Mariah L. Hoye;Ruiji Jiang;Bethany L. Johnson-Kerner

  206
  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

• Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

  Amir Boukhris;Amir Boukhris;Rebecca Schule;José L. Loureiro;Charles Marques Lourenço

  204
  Citations

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

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

  199
  Citations

• International Guidelines for the treatment of Huntington’s Disease

  Anne Catherine Bachoud-Lévi;Joaquim Ferreira;Renaud Massart;Katia Youssov

  189
  Citations

• FXTAS New insights and the need for revised diagnostic criteria

  Emmanuelle Apartis;Anne Blancher;Wassilios G. Meissner;Lucie Guyant-Maréchal

  187
  Citations

• Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

  Stephan Klebe;Christel Depienne;Sylvie Gerber;Georges Challe

  184
  Citations