New insights into the mechanism of dynein motor regulation by lissencephaly-1
Lissencephaly ('smooth brain') is a severe brain disease associated with numerous
symptoms, including cognitive impairment, and shortened lifespan. The main causative …
symptoms, including cognitive impairment, and shortened lifespan. The main causative …
Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis
R Guerrini, T Filippi - Journal of child neurology, 2005 - journals.sagepub.com
Several malformation syndromes with abnormal cortical development have been
recognized. Specific causative gene defects and characteristic electroclinical patterns have …
recognized. Specific causative gene defects and characteristic electroclinical patterns have …
Effects of environmental enrichment on gene expression in the brain
C Rampon, CH Jiang, H Dong… - Proceedings of the …, 2000 - National Acad Sciences
An enriched environment is known to promote structural changes in the brain and to
enhance learning and memory performance in rodents [Hebb, DO (1947) Am. Psychol. 2 …
enhance learning and memory performance in rodents [Hebb, DO (1947) Am. Psychol. 2 …
A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function
NE Faulkner, DL Dujardin, CY Tai, KT Vaughan… - Nature cell …, 2000 - nature.com
Mutations in the LIS1 gene cause gross histological disorganization of the develo**
human brain, resulting in a brain surface that is almost smooth. Here we show that LIS1 …
human brain, resulting in a brain surface that is almost smooth. Here we show that LIS1 …
Epilepsy and malformations of the cerebral cortex
Malformations of the cerebral cortex (MCC) are often associated with severe epilepsy and
developmental delay. About 40% of drug‐resistant epilepsies are caused by MCC …
developmental delay. About 40% of drug‐resistant epilepsies are caused by MCC …
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization
A Cahana, T Escamez… - Proceedings of the …, 2001 - National Acad Sciences
Lissencephaly is a severe brain malformation in humans. To study the function of the gene
mutated in lissencephaly (LIS1), we deleted the first coding exon from the mouse Lis1 gene …
mutated in lissencephaly (LIS1), we deleted the first coding exon from the mouse Lis1 gene …
Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging
KK Nicodemus, JH Callicott, RG Higier, A Luna… - Human genetics, 2010 - Springer
The etiology of schizophrenia likely involves genetic interactions. DISC1, a promising
candidate susceptibility gene, encodes a protein which interacts with many other proteins …
candidate susceptibility gene, encodes a protein which interacts with many other proteins …
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)
Classical lissencephaly (LIS) and subcortical band heterotopia (SBH) are related cortical
malformations secondary to abnormal migration of neurons during early brain development …
malformations secondary to abnormal migration of neurons during early brain development …
Epilepsy and genetic malformations of the cerebral cortex
R Guerrini, R Carrozzo - American journal of medical genetics, 2001 - Wiley Online Library
Malformations of the cerebral cortex are an important cause of developmental disabilities
and epilepsy. Here we review those malformations for which a genetic basis has been …
and epilepsy. Here we review those malformations for which a genetic basis has been …
Genetic malformations of the cerebral cortex and epilepsy
R Guerrini - Epilepsia, 2005 - Wiley Online Library
We reviewed the epileptogenic cortical malformations for which a causative gene has been
cloned or a linkage obtained. X‐linked bilateral periventricular nodular heterotopia (BPNH) …
cloned or a linkage obtained. X‐linked bilateral periventricular nodular heterotopia (BPNH) …