Results 51 to 60 of about 13,805 (257)

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

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

Degree of Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy [PDF]

, 2016
The secondary dystroglycanopathies are characterized by the hypoglycosylation of alpha dystroglycan, and are associated with mutations in at least 18 genes that act on the glycosylation of this cell surface receptor rather than the Dag1 gene itself.
Booler, H, Brown, S C, Hopkinson, M, Williams, J   +3 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

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

Lissencephaly

Definitions, 2020
A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.
Joseph Junewick
semanticscholar   +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
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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

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? [PDF]

, 2016
LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular ...
A Brancaccio, A von Renesse, A Yoshida, AK Marrone, AM Beedle, AS Pawlisz, Atsushi Asakura, B Constantin, C Whitmore, CJ Moore, D Beltran-Valero de Bernabe, D. J. Wells, DE Michele, DJ Lefeber, E. Lacey, EL McDearmon, F Saito, H. Booler, J Liu, J van Reeuwijk, J. C. W. Hildyard, JM Ervasti, JS Satz, K Kobayashi, K Koehler, KG Meilleur, KJ Carss, KM Wright, LT Guo, M Bozzi, M Brockington, M Kanagawa, M Ogawa, M. Hopkinson, MD Henry, MD Henry, MM Goddeeris, MR Ackroyd, MR Ackroyd, MT Garcia-Silva, O Ibraghimov-Beskrovnaya, O Thompson, P Zhang, PJ Holzfeind, PK Grewal, R Barone, R Barresi, R Shaheen, S Sugita, S Vuillaumier-Barrot, S. C. Brown, T Roscioli, T Toda, T Willer, Y Omori   +54 more
core   +4 more sources