|2.||Malformations of Cortical Development
|3.||Muscular Dystrophies (Muscular Dystrophy)
|4.||Classical Lissencephalies and Subcortical Band Heterotopias
|1.||Tanzi, Rudolph E: 1 article (06/2015)|
|2.||Wang, Lirong: 1 article (06/2015)|
|3.||Hafeez, Imran: 1 article (06/2015)|
|4.||Guénette, Suzanne Y: 1 article (06/2015)|
|5.||Moncaster, Juliet A: 1 article (06/2015)|
|6.||Goldstein, Lee E: 1 article (06/2015)|
|7.||Suh, Jaehong: 1 article (06/2015)|
|8.||Herz, Joachim: 1 article (06/2015)|
|9.||Nakagawa, Naoki: 1 article (01/2015)|
|10.||Kato, Koichi: 1 article (01/2015)|
01/01/2015 - "Our findings demonstrate the initial pathological events in dystroglycanopathy mice and contribute to our understanding of how dystroglycan dysfunction affects brain development and progresses to cobblestone lissencephaly. "
10/27/2010 - "Deletion of dystroglycan in the whole brain produced glial/neuronal heterotopia resembling the cerebral cortex malformation in cobblestone lissencephaly. "
06/01/2010 - "The CNS lesion of FCMD is characterized by cobblestone lissencephaly, associated with decreased glycosylation of alpha-dystroglycan in the glia limitans where the basement membrane is formed. "
01/01/2015 - "Aberrant glycosylation of dystroglycan causes congenital muscular dystrophies associated with cobblestone lissencephaly, classified as dystroglycanopathy. "
08/01/2012 - "During development, defects in the glycosylation of α-dystroglycan that impair its ability to interact with the extracellular matrix (ECM) are frequently associated with cobblestone lissencephaly and mental retardation. "
06/01/2015 - "We previously reported that FE65/FE65L1 double knockout (DKO) mice display disorganized laminin in meningeal fibroblasts and a cobblestone lissencephaly-like phenotype in the developing cortex. "
03/01/2013 - "Mice lacking both of these laminin chains exhibit hallmarks of human cobblestone lissencephaly (type II, nonclassical): they demonstrate severe laminar disruption; midline fusion; perturbation of Cajal-Retzius cell distribution; altered radial glial cell morphology; and ectopic germinal zones. "
12/01/2007 - "There was no brainstem involvement, polymicrogyria or cobblestone lissencephaly in both of our cases which allowed differentiation of merosin-negative CMD from other CMDs. "
06/01/1999 - "This is the first report of a patient with merosin-positive CMD, cobblestone lissencephaly, and demyelinating peripheral neuropathy."
|4.||GTP Phosphohydrolases (GTPases)IBA
03/08/2012 - "Here we show that genetic deletion of the small GTPase RhoA in the developing cerebral cortex results in two migrational disorders: subcortical band heterotopia (SBH), a heterotopic cortex underlying the normotopic cortex, and cobblestone lissencephaly, in which neurons protrude beyond layer I at the pial surface of the brain. "
|7.||Creatine Kinase (Creatine Phosphokinase)IBA
04/15/2014 - "We report the first known Egyptian patient with FCMD, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive joint contractures, severe scoliosis, elevated serum creatine kinase level, myopathic electrodiagnostic changes, brain MRI with cobblestone complex, and mutation in the fukutin gene. "
02/01/2013 - "Cobblestone lissencephaly in Schinzel-Giedion syndrome."
|9.||protein O-mannose beta-1,2-N-acetylglucosaminyltransferaseIBA