Results 41 to 50 of about 13,805 (257)

In utero MR imaging in fetuses at high risk of lissencephaly [PDF]

British Journal of Radiology, 2017
F.T. Williams, Paul D. Griffiths
openalex   +2 more sources

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection. [PDF]

Epilepsy Behav Rep
Ying Eng N, Nie DA.
europepmc   +2 more sources

CNV and nervous system diseases - what's new? [PDF]

, 2008
Several new genomic disorders caused by copy number variation (CNV) of genes whose dosage is critical for the physiological function of the nervous system have been recently identified.
Gu, W., Lupski, J. R.
core   +3 more sources

Differential effects of the dynein-regulatory factor Lissencephaly-1 on processive dynein-dynactin motility

Journal of Biological Chemistry, 2017
Cytoplasmic dynein is the primary minus-end–directed microtubule motor protein in animal cells, performing a wide range of motile activities, including transport of vesicular cargos, mRNAs, viruses, and proteins.
Pedro Antonio Gutiérrez, Bryce E. Ackermann, Michael Vershinin, Richard J. McKenney   +3 more
openalex   +2 more sources

New insights into the mechanism of dynein motor regulation by lissencephaly-1

eLife, 2020
Lissencephaly (‘smooth brain’) is a severe brain disease associated with numerous symptoms, including cognitive impairment, and shortened lifespan. The main causative gene of this disease – lissencephaly-1 (LIS1) – has been a focus of intense scrutiny ...
S. M. Markus, M. G. Marzo, R. Mckenney
semanticscholar   +1 more source

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

Genes, 2021
Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development.
Gianluca Contrò, A. Micalizzi, S. Giangiobbe, S. Caraffi, R. Zuntini, S. Rosato, M. Pollazzon, A. Terracciano, M. Napoli, Susanna Rizzi, G. Salerno, F. Radio, M. Niceta, E. Parrini, C. Fusco, G. Gargano, R. Guerrini, M. Tartaglia, A. Novelli, O. Zuffardi, L. Garavelli   +20 more
semanticscholar   +1 more source

Molecular and Genetic Determinants of Glioma Cell Invasion. [PDF]

, 2017
A diffusely invasive nature is a major obstacle in treating a malignant brain tumor, "diffuse glioma", which prevents neurooncologists from surgically removing the tumor cells even in combination with chemotherapy and radiation.
Kato, Yoichiro, Masui, Kenta, Mischel, Paul S, Sawada, Tatsuo, Shibata, Noriyuki   +4 more
core   +2 more sources

Labyrinthine Turing Pattern Formation in the Cerebral Cortex [PDF]

, 2002
I propose that the labyrinthine patterns of the cortices of mammalian brains may be formed by a Turing instability of interacting axonal guidance species acting together with the mechanical strain imposed by the interconnecting axons.Comment: See home ...
BAIER, BARD, CARTWRIGHT, CASTETS, DICKSTEIN, DOBYNS, ERNST, FITZHUGH, FITZHUGH, GOLDSTEIN, GOODHILL, GOODWIN, GRIFFIN, HENTSCHEL, JUDD, JULYAN H.E. CARTWRIGHT, KAUFFMAN, KOCH, KONDO, MEINHARDT, MURATOV, MURRAY, MURRAY, NAGUMO, ODELL, OSTER, OUYANG, RAGHAVAN, RAKIC, RAMÓN Y CAJAL, RICHMAN, SCANNELL, SEUL, TESSIER-LAVIGNE, TODD, TURING, VAN DER POL, VAN ESSEN, WATZL, WITELSON, ZHENG, ZILLES   +41 more
core   +3 more sources

Lissencephaly in a Pekingese

Journal of Veterinary Medical Science, 2017
A 1-year-old neutered male Pekingese was presented for evaluation and further treatment of cluster seizures. The dog had behavioral abnormalities, and a prosencephalic lesion was suspected following neurological examination. The dog showed signs of learning difficulty. Magnetic resonance imaging of the brain revealed a remarkably smooth cerebral cortex
Michihito Tagawa, Kazuro Miyahara, Eiji Oohashi, Masashi Yanagawa, Genya Shimbo   +4 more
openaire   +4 more sources

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

Neurology: Genetics, 2021
Objective We aimed to identify pathogenic variants in a girl with epilepsy, developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities with the use of whole-exome sequencing.
MD Msc Daphne J. Smits, BSc Rachel Schot, PhD Martina Wilke, PhD Marjon van Slegtenhorst, Marie Claire, MD Y. de Wit, Marjolein H.G. Dremmen PhD, M. W. B. Md, PhD A. James Barkovich, PhD Grazia M.S. Mancini   +9 more
semanticscholar   +1 more source