Concepedia

Wolfram Syndrome

Wolfram Syndrome is a rare autosomal recessive neurodegenerative disorder characterized by the combination of optic atrophy and diabetes insipidus, distinguished from other syndromic forms of diabetes by the presence of progressive neurological and endocrinological manifestations.

295

Publications

17.4K

Citations

1.6K

Authors

608

Institutions

Publications per year

2017–2026

78

Variants

DidmoadDidmoad Syndrome

Parents

Publications

295

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

Hiroshi Inoue, Yukio Tanizawa, P Behn et al. · Nature Genetics · 1998 · 755 citations

, , +15

Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome

Timothy Barrett, Sarah Bundey, A F Macleod · The Lancet · 1995 · 636 citations

, , +9

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

Tim M. Strom · Human Molecular Genetics · 1998 · 482 citations · Full text

, , +17

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells

Sonya G. Fonseca, Shinsuke Ishigaki, Christine M. Oslowski et al. · Journal of Clinical Investigation · 2010 · 408 citations · Full text

, , +15

WFS1 Is a Novel Component of the Unfolded Protein Response and Maintains Homeostasis of the Endoplasmic Reticulum in Pancreatic β-Cells

Sonya G. Fonseca, Mariko Fukuma, Kathryn L. Lipson et al. · Journal of Biological Chemistry · 2005 · 368 citations · Full text

, , +16

1–5 of 295

Authors

1.6K

  1. FU
    Fumihiko Urano

    Washington University in St. Louis, United States

    19 publications · 1.9K citations

    17

    h-index

  2. TH
    Tamara Hershey

    Washington University in St. Louis, United States

    19 publications · 863 citations

    16

    h-index

  3. TB
    Timothy Barrett

    University of Birmingham, United Kingdom

    18 publications · 1.7K citations

    16

    h-index

  4. EV
    Eero Vasar

    University of Tartu, Estonia

    12 publications · 610 citations

    12

    h-index

  5. BA
    Bess A. Marshall

    Washington University in St. Louis, United States

    12 publications · 572 citations

    12

    h-index

1–5 of 1.6K

Institutions

608

  1. Washington University in St. Louis

    St Louis, United States

    24 h-index

    188 publications

    11.9K citations

  2. Inserm

    Paris, France

    15 h-index

    90 publications

    4.3K citations

  3. University of Birmingham

    Birmingham, United Kingdom

    14 h-index

    51 publications

    2.7K citations

  4. University of Tartu

    Tartu, Estonia

    14 h-index

    123 publications

    6.2K citations

  5. University of Copenhagen

    Copenhagen, Denmark

    11 h-index

    26 publications

    2K citations

  6. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    10 h-index

    51 publications

    2.2K citations

  7. University College London

    London, United Kingdom

    10 h-index

    26 publications

    1K citations

  8. Yamaguchi University

    Yamaguchi, Japan

    9 h-index

    36 publications

    2.5K citations

1–8 of 608

Venues

  1. Human Molecular Genetics

    17 publications · 2.6K citations

    16

    h-index

  2. PubMed

    Repository · 16 publications · 469 citations

    11

    h-index

  3. Scientific Reports

    8 publications · 289 citations

    8

    h-index

  4. Diabetes Care

    7 publications · 654 citations

    7

    h-index

  5. PLoS ONE

    7 publications · 413 citations

    7

    h-index

1–5