Concepedia

Pathogenic Gene Identification

Pathogenic Gene Identification is the systematic process of discovering and validating specific genetic mutations responsible for causing Spinocerebellar Ataxias within affected individuals or populations.

617

Publications

31.4K

Citations

5.5K

Authors

1.6K

Institutions

Publications per year

2017–2026

229

Parents

Publications

617

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

Georges Imbert, Frédéric Saudou, Gaël Yvert et al. · Nature Genetics · 1996 · 855 citations

, , +13

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Kazuhiro Sanpei, Hiroki Takano, S. Igarashi et al. · Nature Genetics · 1996 · 774 citations

, , +17

Identification of genes that modify ataxin-1-induced neurodegeneration

Pedro Fernández-Fúnez, María Laura Niño-Rosales, Béatrice Gouyon et al. · Nature · 2000 · 662 citations

, , +12

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Michael D. Koob, Melinda L. Moseley, Lawrence J. Schut et al. · Nature Genetics · 1999 · 639 citations

, , +13

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

James C. Engert, Pierre Bérubé, Jocelyne Mercier et al. · Nature Genetics · 2000 · 436 citations

, , +12

1–5 of 617

Authors

5.5K

  1. AB
    Alexis Brice

    Inserm, France

    21 publications · 2.6K citations

    20

    h-index

  2. AD
    Alexandra Dürr

    Inserm, France

    17 publications · 2K citations

    16

    h-index

  3. GS
    Giovanni Stévanin

    Inserm, France

    12 publications · 1.6K citations

    12

    h-index

  4. HJ
    Hong Jiang

    Central South University, China

    10 publications · 671 citations

    10

    h-index

  5. LS
    Lüdger Schöls

    Hertie Institute for Clinical Brain Research, Germany

    9 publications · 824 citations

    9

    h-index

1–5 of 5.5K

Institutions

1.6K

  1. Inserm

    Paris, France

    27 h-index

    273 publications

    30.6K citations

  2. Sorbonne Université

    Paris, France

    24 h-index

    186 publications

    16.6K citations

  3. Centre National de la Recherche Scientifique

    Paris, France

    24 h-index

    177 publications

    17.2K citations

  4. Pitié-Salpêtrière Hospital

    Paris, France

    20 h-index

    90 publications

    11.1K citations

  5. Assistance Publique – Hôpitaux de Paris

    Paris, France

    19 h-index

    132 publications

    11.2K citations

  6. University College London

    London, United Kingdom

    18 h-index

    104 publications

    4.2K citations

  7. Radboud University Nijmegen

    Nijmegen, The Netherlands

    14 h-index

    98 publications

    10.4K citations

  8. Central South University

    Changsha, China

    14 h-index

    186 publications

    8K citations

1–8 of 1.6K

Venues

  1. Neurology

    25 publications · 1.6K citations

    24

    h-index

  2. Movement Disorders

    21 publications · 692 citations

    17

    h-index

  3. Journal of Neurology

    17 publications · 730 citations

    15

    h-index

  4. PLoS ONE

    15 publications · 648 citations

    13

    h-index

  5. Human Mutation

    15 publications · 775 citations

    13

    h-index

1–5