Concepedia

Cobblestone Cortex

Cobblestone Cortex is a neuropathological malformation of the cerebral cortex characterized by neuronal overmigration beyond the pial boundary, resulting in a nodular cortical surface and disorganized lamination that distinguishes it from other cortical developmental disorders.

12

Publications

1K

Citations

57

Authors

33

Institutions

Publications per year

2017–2026

1

Variants

Cobblestone Lissencephaly

Parents

Publications

12

<i>POMT2</i> mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

J. van Reeuwijk · Journal of Medical Genetics · 2005 · 417 citations · Full text

, , +14

GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination

Shihong Li, Zhaohui Jin, Samir Koirala et al. · Journal of Neuroscience · 2008 · 241 citations · Full text

, , +17

Muscle—eye—brain disease: A neuropathological study

Matti Haltia, Ilmo Leivo, Hannu Somer et al. · Annals of Neurology · 1997 · 166 citations

, , +15

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

Lionel Van Maldergem, Memnune Yüksel‐Apak, Hülya Kayserili et al. · Neurology · 2008 · 50 citations · Full text

, , +17

Developmental disorders of the midbrain and hindbrain

A. James Barkovich · Frontiers in Neuroanatomy · 2012 · 47 citations · Full text

, , +17

1–5 of 12

Authors

57

  1. PS
    Pirkko Santavuori

    University of Helsinki, Finland

    2 publications · 176 citations

    2

    h-index

  2. WB
    William B. Dobyns

    University of Chicago, United States

    2 publications · 68 citations

    2

    h-index

  3. JV
    J. van Reeuwijk

    Radboud University Medical Center, Netherlands

    1 publications · 417 citations

    1

    h-index

  4. RO
    Richard O. Hynes

    Massachusetts Institute of Technology, United States

    1 publications · 241 citations

    1

    h-index

  5. SL
    Shihong Li

    Lanzhou Institute of Husbandry and Pharmaceutical Sciences, China

    1 publications · 241 citations

    1

    h-index

1–5 of 57

Institutions

33

  1. Beth Israel Deaconess Medical Center

    Boston, United States

    2 h-index

    2 publications

    658 citations

  2. Howard Hughes Medical Institute

    Chevy Chase, United States

    2 h-index

    2 publications

    658 citations

  3. University of Helsinki

    Helsinki, Finland

    2 h-index

    2 publications

    176 citations

  4. Radboud Institute for Molecular Life Sciences

    Nijmegen, The Netherlands

    1 h-index

    1 publications

    417 citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    1 h-index

    1 publications

    417 citations

  6. Istituto Ortopedico Rizzoli

    Bologna, Italy

    1 h-index

    1 publications

    417 citations

  7. Radboud University Medical Center

    Nijmegen, The Netherlands

    1 h-index

    1 publications

    417 citations

  8. Hammersmith Hospital

    London, United Kingdom

    1 h-index

    1 publications

    417 citations

1–8 of 33

Venues

  1. Neurology

    2 publications · 68 citations

    2

    h-index

  2. Journal of Medical Genetics

    JMG · 1 publications · 417 citations

    1

    h-index

  3. Journal of Neuroscience

    1 publications · 241 citations

    1

    h-index

  4. Annals of Neurology

    1 publications · 166 citations

    1

    h-index

  5. Frontiers in Neuroanatomy

    1 publications · 47 citations

    1

    h-index

1–5