Concepedia

Leukodystrophy Genetics

Leukodystrophy Genetics is a scientific discipline within glial cell genetics that investigates the hereditary mechanisms and genetic variations underlying disorders affecting the development and maintenance of white matter in the central nervous system, particularly those involving dysfunction of glial cells responsible for myelination.

617

Publications

29K

Citations

3.8K

Authors

1.2K

Institutions

Publications per year

2017–2026

129

Parents

Publications

617

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

Anna Richards, Arn M. J. M. van den Maagdenberg, Joanna C. Jen et al. · Nature Genetics · 2007 · 452 citations

, , +8

Lamin B1 duplications cause autosomal dominant leukodystrophy

Quasar Saleem Padiath, Kazumasa Saigoh, Raphael Schiffmann et al. · Nature Genetics · 2006 · 402 citations

, , +9

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Ichizo Nishino, Antonella Spinazzola, Alexandros Papadimitriou et al. · Annals of Neurology · 2000 · 343 citations

, , +17

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis.

Lars Svennerholm, M. T. Vanier, J.‐E. Månsson · Journal of Lipid Research · 1980 · 323 citations · Full text

, , +14

Molecular Basis of Different Forms of Metachromatic Leukodystrophy

Andreas Polten, Arvan L. Fluharty, Claire B. Fluharty et al. · New England Journal of Medicine · 1991 · 298 citations · Full text

, , +13

1–5 of 617

Authors

3.8K

  1. AV
    Adeline Vanderver

    Children's National, United States

    26 publications · 2.4K citations

    24

    h-index

  2. MS
    Marjo S. van der Knaap

    Amsterdam UMC Location Vrije Universiteit Amsterdam, Netherlands

    28 publications · 1.9K citations

    20

    h-index

  3. RS
    Raphael Schiffmann

    National Institute of Neurological Disorders and Stroke, United States

    21 publications · 2.4K citations

    20

    h-index

  4. NI
    Nicole I. Wolf

    Amsterdam Neuroscience, Netherlands

    25 publications · 1.6K citations

    20

    h-index

  5. GB
    Geneviève Bernard

    McGill University, Canada

    24 publications · 1.8K citations

    19

    h-index

1–5 of 3.8K

Institutions

1.2K

  1. Inserm

    Paris, France

    24 h-index

    148 publications

    12.6K citations

  2. McGill University

    Montreal, Canada

    21 h-index

    94 publications

    6.4K citations

  3. Amsterdam Neuroscience

    Amsterdam, The Netherlands

    19 h-index

    95 publications

    8.7K citations

  4. Children's National

    Washington, United States

    18 h-index

    79 publications

    5.6K citations

  5. University of Göttingen

    Göttingen, Germany

    17 h-index

    39 publications

    2.9K citations

  6. University of Bonn

    Bonn, Germany

    17 h-index

    70 publications

    4.8K citations

  7. Montreal Children's Hospital

    Montreal, Canada

    16 h-index

    63 publications

    4.1K citations

  8. University of Pennsylvania

    Philadelphia, United States

    16 h-index

    35 publications

    2.5K citations

1–8 of 1.2K

Venues

  1. Neurology

    27 publications · 1.8K citations

    21

    h-index

  2. Annals of Neurology

    21 publications · 1.9K citations

    19

    h-index

  3. PubMed

    Repository · 33 publications · 1.3K citations

    19

    h-index

  4. Human Molecular Genetics

    20 publications · 1.5K citations

    18

    h-index

  5. Brain

    17 publications · 944 citations

    17

    h-index

1–5