Cobblestone Malformation

Cobblestone Malformation is a developmental brain malformation characterized by abnormal neuronal migration resulting in a nodular cortical surface due to overmigration of neurons beyond the pial basement membrane.

Publications

2.3K

Citations

269

Authors

151

Institutions

Publications per year

2017–2026

Variants

Cobblestone CortexCobblestone Lissencephaly

Parents

Developmental Brain Malformations

Publications

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

Life Sciences, Developmental Biology, Neuroscience +13

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

Medicine, Neurobiology, Neuroscience +17

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

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

Medicine, Neurology, Neuroscience +17

Muscle—eye—brain disease: A neuropathological study

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

Medicine, Neurology, Neuroscience +15

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

Medicine, Neurobiology, Neuroscience +17

1–5 of 31

Authors

269

WB
William B. Dobyns
University of Chicago, United States
5 publications · 295 citations
5
h-index
XP
Xianhua Piao
Boston Children's Hospital, United States
3 publications · 569 citations
3
h-index
SA
Steven A. Moore
University of Iowa, United States
3 publications · 286 citations
3
h-index
KP
Kevin P. Campbell
Howard Hughes Medical Institute, United States
3 publications · 311 citations
3
h-index
SL
Shihong Li
Lanzhou Institute of Husbandry and Pharmaceutical Sciences, China
3 publications · 569 citations
3
h-index

1–5 of 269

Institutions

151

1–8 of 151

Venues

The American Journal of Human Genetics
AJHG · 3 publications · 298 citations
3
h-index
Ultrasound in Obstetrics and Gynecology
3 publications · 83 citations
3
h-index
Journal of Neuropathology & Experimental Neurology
3 publications · 168 citations
3
h-index
Brain
2 publications · 333 citations
2
h-index
Journal of Neuroscience
2 publications · 402 citations
2
h-index

1–5