Results 31 to 40 of about 11,896 (240)

Dictyostelium discoideum: A Model System for Neurological Disorders

Cells, 2022
Background: The incidence of neurological disorders is increasing due to population growth and extended life expectancy. Despite advances in the understanding of these disorders, curative strategies for treatment have not yet eventuated. In part, this is
Claire Louise Storey, Robin Simon Brooke Williams, Paul Robert Fisher, Sarah Jane Annesley   +3 more
doaj   +1 more source

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε)

Brain Sciences, 2021
The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller–Dieker syndrome (MDS) and 17p13.3 duplication syndrome.
Xiaonan Liu, Sarah A. Bennison, Lozen Robinson, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

A de novo microdeletion involving PAFAH1B (LIS1) related to lissencephaly phenotype

Data in Brief, 2015
Lissencephaly is a type of the congenital malformation of the brain. Due to the impairments of neuronal migration, patients show absence of brain convolution manifesting smooth brain surfaces.
Keiko Shimojima, Akihisa Okumura, Toshiyuki Yamamoto   +2 more
doaj   +1 more source

Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration [PDF]

, 2007
Type I lissencephaly, a genetic disease characterized by disorganized cortical layers and gyral abnormalities, is associated with severe cognitive impairment and epilepsy.
Antypa, M, Friocourt, G, Liu, JS, Parnavelas, JG, Rakic, S, Walsh, CA   +5 more
core   +1 more source

MAPping out distribution routes for kinesin couriers [PDF]

, 2013
In the crowded environment of eukaryotic cells, diffusion is an inefficient distribution mechanism for cellular components. Long-distance active transport is required and is performed by molecular motors including kinesins.
*Ackmann, Adams, Akhmanova, Akhmanova, Akiyama, Al-Bassam, Amadoro, Amos, Audebert, Baas, Baas, Bai, Bananis, Barlan, Bechstedt, Bieling, Binder, Black, Bobinnec, Bonnet, Boucher, Bouquet, Boyne, Bulinski, Bulinski, Burbridge, Burgess, Byrd, Cai, Charalambous, Chu, Cierpicki, Congdon, Cook, Corbo, De Vos, des Portes, des Portes, Desai, Deshpande, Deuel, Dijkmans, Dimitrov, DiTella, Dixit, Douglas, Drewes, Drewes, Duan, Dubey, Duff, Dunn, Eastwood, Ebneth, Erck, Faire, Fourniol, Francis, Friocourt, Fu, Fukushima, Fung, Galaburda, Garnham, Gleeson, Gleeson, Goldstein, Guillaud, Gurland, Hagiwara, Hammond, Hanger, Hanlon, Harada, Hardy, Heins, Hepp, Hidaka, Hirokawa, Hirokawa, Hoang, Horesh, Horiguchi, Huang, Hyman, Iijima, Ikegami, Ikegami, Iqbal, Iqbal, Ittner, Jacobson, Janke, Jenkins, Jimenez-Mateos, Ju, Kamal, Kanaan, Kanai, Kappeler, Kar, Kaslow, Kawaguchi, Kayadjanian, Khatoon, Khawaja, Kim, Klebe, Koizumi, Kondo, Konishi, Kosik, Kowall, Kreitzer, Kueh, LaPointe, Larcher, Larkin, Lawrence, Lazarov, Lee, Leger, Lewis, Liao, Lin, Liu, Liu, Liu, Liu, Lopez, Maas, Makrides, Mandelkow, Mandelkow, Mandell, Marcos, Marszalek, Massinen, Massow, Maurer, McVicker, Meng, Metzger, Miki, Miki, Mok, Moores, Moores, Morfini, Muresan, Nadar, Nakata, Nakata, Nakata, Navone, Nguyen, Nishimura, Noda, Noda, Nogales, Nosten-Bertrand, Omori, Pagon, Palazzo, Paturle-Lafanechere, Peck, Perez, Peterman, Pettersen, Pfenninger, Pfister, Polydoro, Reed, Reifert, Reiner, Saito, Santarella, Sapir, Saragoni, Schaar, Seidel, Seitz, Setou, Setou, Sharp, Shirasu, Silverman, Sindelar, Small, Song, Soppina, Sossey-Alaoui, Spiliotis, Spronsen, Stamer, Stokin, Stoothoff, Sung, Takei, Takemura, Tapia, Taylor, Teng, Terwel, Thinakaran, Thorn, Tien, Tilney, Tint, Tischfield, Trinczek, Tsai, Uchida, Utton, Vale, Vale, Verhey, Verhey, Vershinin, Vreugdenhil, Wade, Wagner, Walter, Wordeman, Xu, Yajima, Yamazaki, Yang, Yang, Ye, Yonekawa, Yoshimura, Yu, Yuan, Zempel, Zhang   +235 more
core   +1 more source

What do parents of children with dysphagia think about their MDT? A qualitative study [PDF]

, 2014
Objectives: To seek the experiences and perspectives of parents caring for children with dysphagia, with emphasis on their experiences of working within their child’s multidisciplinary team (MDT) Setting: This research was completed in community settings,
Hanson, B, Smith, CH
core   +1 more source

Infantile spasms and developmental delay: A case of miller–Dieker syndrome

Indian Pediatrics Case Reports, 2023
Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George, Carol Sara Cherian, Reji Thomas, Sebin Sunnychan   +3 more
doaj   +1 more source

Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography

Brain Sciences, 2023
Lissencephaly (LIS) is a rare neurodevelopmental disorder with severe symptoms caused by abnormal neuronal migration during cortical development. It is caused by both genetic and non-genetic factors.
Alpen Ortug, Briana Valli, José Luis Alatorre Warren, Tadashi Shiohama, Andre van der Kouwe, Emi Takahashi   +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