Results 61 to 70 of about 13,805 (257)

Characteristics of symptomatic epilepsy and other neurological disorders in children with lissencephaly

Бюллетень сибирской медицины, 2018
Brain malformations are one of the most frequent causes of epilepsy in childhood. In patients with malformations of the brain epilepsy is diagnosed in 75–80% of cases.
V. I. Guzeva, I. V. Ochrim, V. R. Kasumov, O. V. Guzeva, V. V. Guzeva, N. E. Maksimova   +5 more
doaj   +1 more source

Paclitaxel resistance by random mutagenesis of α‐tubulin [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/102075/1/cm21154-sup-0001-suppfig1.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/102075/2/cm21154-sup-0002-suppfig2.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/102075/3/cm21154 ...
Abraham, Bahi-Buisson, Begaye, Bhattacharya, Boggs, Cabral, Cabral, Cabral, Cabral, Cabral, Cabral, Cabral, Cabral, DeLano, Dumontet, Elliott, Elliott, Fallet-Bianco, Ganguly, Ganguly, Ganguly, Giannakakou, Giannakakou, Gonzalez-Garay, Gossen, Hari, Huzil, Janke, Jansen, Jordan, Kanakkanthara, Keating, Kumar, Kung, Lecourtois, LeDizet, Li, Loganzo, Martello, Minotti, Mitchison, Morris-Rosendahl, Nogales, Nogales, Piperno, Poirier, Poirier, Poruchynsky, Schibler, Sheir-Neiss, Thomas, Tischfield, Wang, Westermann, Yang, Yin, Yin   +56 more
core   +1 more source

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Genetics in Medicine, 2018
To estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia. We collected DNA from 756 children with lissencephaly over 30 years.
N. Donato, A. Timms, K. Aldinger, G. Mirzaa, PhD James T Bennett MD, S. Collins, C. Olds, D. Mei, S. Chiari, G. Carvill, Candace T. Myers, J. Rivière, M. Zaki, PhD Joseph G Gleeson MD, A. Rump, V. Conti, E. Parrini, PhD M Elizabeth Ross MD, D. Ledbetter, R. Guerrini, W. Dobyns   +20 more
semanticscholar   +1 more source

Polymicrogyria: pathology, fetal origins and mechanisms [PDF]

, 2014
Polymicrogyria (PMG) is a complex cortical malformation which has so far defied any mechanistic or genetic explanation. Adopting a broad definition of an abnormally folded or festooned cerebral cortical neuronal ribbon, this review addresses the ...
Anna Jansen, Waney Squier
core   +1 more source

Construction of 3D in vitro models by bioprinting human pluripotent stem cells: Challenges and opportunities [PDF]

, 2019
Three-dimensional (3D) printing of biological material, or 3D bioprinting, is a rapidly expanding field with interesting applications in tissue engineering and regenerative medicine. Bioprinters use cells and biocompatible materials as an ink (bioink) to
Rosa, Alessandro, Salaris, Federico
core   +1 more source

Nestin Selectively Facilitates the Phosphorylation of the Lissencephaly-Linked Protein Doublecortin (DCX) by cdk5/p35 to Regulate Growth Cone Morphology and Sema3a Sensitivity in Developing Neurons

Journal of Neuroscience, 2020
Nestin, an intermediate filament protein widely used as a marker of neural progenitors, was recently found to be expressed transiently in developing cortical neurons in culture and in developing mouse cortex.
C. J. Bott, L. McMahon, Jason M. Keil, C. Yap, Kenneth Y. Kwan, B. Winckler   +5 more
semanticscholar   +1 more source

Extensive Phenotypic Variability in Syndrome Dysmorphic Facies, Renal Agenesis, Ambiguous Genitalia, Microcephaly, Polydactyly, and Lissencephaly (DREAM-PL): A Case Report Highlighting Diagnostic and Management Challenges. [PDF]

Cureus
Shaaban AI, Lotfy FM, Alharbi MS, Zaky AF, Al Sari RR, Mattar RK, Al Mubarak HA, Jama A, Mousa SM, Borah NA, Alshami FM, Afandy FF, Fadda SH.   +12 more
europepmc   +3 more sources

Studies of Recombinant TWA1 Reveal Constitutive Dimerization [PDF]

, 2017
The mammalian muskelin/RanBP9/C-terminal to LisH (CTLH) complex and the Saccharomyces cerevisiae glucose-induced degradation (GID) complex are large, multi-protein complexes that each contain a RING E3 ubiquitin ligase.
Adams, Jo, Baker, Genevieve, Francis, Ore, Race, Paul   +3 more
core   +2 more sources

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias

Frontiers in Neuroscience, 2015
Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere
Mitsuhiro eKato, Mitsuhiro eKato
doaj   +1 more source

Baraitser-Winter cerebrofrontofacial syndrome [PDF]

, 2016
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems.
Baraitser, Belyantseva, Bergeron, Bunnell, Bunnell, Cheever, Der Kaloustian, Di Donato, Di Donato, Drummond, Dugina, Dugina, Fletcher, Forbes, Fryns, Gearing, Ghosh, Gomez, Guion-Almeida, Hundt, Johnston, Karakozova, Koçak Eker, Lohr, Perrin, Perrin, Poirier, Ramer, Rendtorff, Retterer, Rivière, Rossi, Skalicky, Sonnemann, Stern, Verloes, Wijk, Winter, Yamazaki, Zhang   +39 more
core   +2 more sources