Giovanni Stevanin

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award
• 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Best Publications

• Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

  Georges Imbert;Frédéric Saudou;Frédéric Saudou;Gaël Yvert;Gaël Yvert;Didier Devys;Didier Devys

  1004
  Citations

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

  Gilles David;Nacer Abbas;Giovanni Stevanin;Alexandra Dürr

  960
  Citations

• Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

  Yvon Trottier;Yves Lutz;Giovanni Stevanin;Georges Imbert

  785
  Citations

• Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

  M C Moreira;S Klur;M Watanabe;A H Nemeth

  604
  Citations

• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

  Gaia Novarino;Ali G. Fenstermaker;Maha S. Zaki;Matan Hofree

  602
  Citations

• Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features

  Alexandra Durr;Giovanni Stevanin;Geraldine Cancel;Charles Duyckaerts

  527
  Citations

• Spectrin mutations cause spinocerebellar ataxia type 5

  Yoshio Ikeda;Katherine A Dick;Marcy R Weatherspoon;Dan Gincel

  439
  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

• Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1

  Gispert S;Twells R;Orozco G;Brice A

  378
  Citations

• Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

  Michael F. Waters;Ngatali A. Minassian;Giovanni Stevanin;Karla P. Figueroa

  347
  Citations

• Molecular and Clinical Correlations in Autosomal Dominant Cerebellar Ataxia with Progressive Macular Dystrophy (SCA7)

  Gilles David;Alexandra Dürr;Giovanni Stevanin;Géraldine Cancel

  339
  Citations

• A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.

  Susan E. Holmes;Elizabeth O'Hearn;Adam Rosenblatt;Colleen Callahan

  330
  Citations

• Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

  Josef Finsterer;Wolfgang Löscher;Stefan Quasthoff;Julia Wanschitz

  322
  Citations

• Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations

  H. Takano;G. Cancel;T. Ikeuchi;D. Lorenzetti

  299
  Citations

• Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

  Géraldine Cancel;Alexandra Dürr;Olivier Didierjean;Georges Imbert

  284
  Citations

• Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

  Giovanni Stevanin;Hamid Azzedine;Paola Denora;Amir Boukhris

  283
  Citations

• Hereditary spastic paraplegias: an update

  Christel Depienne;Giovanni Stevanin;Alexis Brice;Alexandra Durr

  278
  Citations

• Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families

  A Dürr;D Smadja;G Cancel;A Lezin

  273
  Citations

• Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology.

  Giovanni Stevanin;Alexandra Dürr;Alexis Brice

  264
  Citations

• Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

  Sylvain Hanein;Elodie Martin;Elodie Martin;Amir Boukhris;Paula Byrne

  259
  Citations