Concepedia

Cobblestone Lissencephaly

Cobblestone Lissencephaly is a rare congenital brain malformation characterized by a cobblestone-like cortical surface due to aberrant neuronal migration and overmigration across the pial basement membrane, distinguishing it from other forms of lissencephaly by the presence of nodular heterotopia and glioneuronal proliferation.

40

Publications

2.5K

Citations

261

Authors

155

Institutions

Publications per year

2017–2026

5

Variants

Cobblestone Cortex

Parents

Publications

40

G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination

Rong Luo, Sung‐Jin Jeong, Zhaohui Jin et al. · Proceedings of the National Academy of Sciences · 2011 · 286 citations · Full text

, , +13

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Louise Devisme, C Bouchet, Marie Gonzalès et al. · Brain · 2012 · 192 citations

, , +17

A Radial Glia-Specific Role of RhoA in Double Cortex Formation

Silvia Cappello, Christian Böhringer, Matteo Bergami et al. · Neuron · 2012 · 167 citations · Full text

, , +17

Distinct Functions of Glial and Neuronal Dystroglycan in the Developing and Adult Mouse Brain

Jakob S. Satz, Adam P. Ostendorf, Shangwei Hou et al. · Journal of Neuroscience · 2010 · 161 citations · Full text

, , +17

A homozygous nonsense mutation in the <i>Fukutin</i> gene causes a Walker-Warburg syndrome phenotype

Daniel Beltrán Valero de Bernabé, Hans van Bokhoven, Ellen van Beusekom et al. · Journal of Medical Genetics · 2003 · 155 citations · Full text

, , +17

1–5 of 40

Authors

261

  1. WB
    William B. Dobyns

    University of Chicago, United States

    6 publications · 473 citations

    6

    h-index

  2. FE
    Férechté Encha‐Razavi

    Hôpital Necker-Enfants Malades, France

    3 publications · 354 citations

    3

    h-index

  3. KP
    Kevin P. Campbell

    Howard Hughes Medical Institute, United States

    3 publications · 229 citations

    3

    h-index

  4. AB
    Anne Bazin

    Inserm, France

    2 publications · 332 citations

    2

    h-index

  5. SV
    Sandrine Vuillaumier‐Barrot

    Hôpital Bichat-Claude-Bernard, France

    2 publications · 332 citations

    2

    h-index

1–5 of 261

Institutions

155

  1. Howard Hughes Medical Institute

    Chevy Chase, United States

    5 h-index

    5 publications

    417 citations

  2. Harvard University

    Cambridge, United States

    3 h-index

    3 publications

    524 citations

  3. Inserm

    Paris, France

    3 h-index

    3 publications

    360 citations

  4. University of Chicago

    Chicago, United States

    3 h-index

    3 publications

    349 citations

  5. University of Iowa

    Iowa City, United States

    3 h-index

    3 publications

    229 citations

  6. University of California, San Francisco

    San Francisco, United States

    3 h-index

    3 publications

    199 citations

  7. SUNY Downstate Health Sciences University

    Brooklyn, United States

    3 h-index

    3 publications

    143 citations

  8. Boston Children's Hospital

    Boston, United States

    2 h-index

    2 publications

    357 citations

1–8 of 155

Venues

  1. PubMed

    Repository · 3 publications · 77 citations

    3

    h-index

  2. Journal of Neuroscience

    2 publications · 278 citations

    2

    h-index

  3. The American Journal of Human Genetics

    AJHG · 2 publications · 186 citations

    2

    h-index

  4. Neuropediatrics

    2 publications · 63 citations

    2

    h-index

  5. European Journal of Pediatrics

    2 publications · 43 citations

    2

    h-index

1–5