Results 81 to 90 of about 2,568 (202)

Calnexin-assisted biogenesis of the neuronal glycine transporter 2 (GlyT2).

PLoS ONE, 2013
The neuronal transporter GlyT2 is a polytopic, 12-transmembrane domain, plasma membrane glycoprotein involved in the removal and recycling of synaptic glycine from inhibitory synapses.
Esther Arribas-González, Pablo Alonso-Torres, Carmen Aragón, Beatriz López-Corcuera   +3 more
doaj   +1 more source

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]

, 2017
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael, Becker, Felicitas, Dalal, Ashwin B, Dutta, Usha R, Gradek, Gyri, Jamali, Payman, Kahrizi, Kimia, Kalscheuer, Vera M, Korenke, Christoph, Lesca, Gaetan, Marco, Elysa, Marshall, Christian R, Mercier, Sandra, Minassian, Berge A, Najmabadi, Hossein, Scherer, Stephen W, Sherr, Elliott, Suckow, Vanessa, Till, Marianne, Walker, Susan, Wiesener, Antje, Yamamoto, Toshiyuki   +21 more
core  

‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCC [PDF]

, 2015
Serological testing for anti-neural autoantibodies is important in patients presenting with idiopathic cerebellar ataxia, since these autoantibodies may indicate cancer, determine treatment and predict prognosis.
Jarius, Sven, Wildemann, Brigitte
core   +1 more source

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies [PDF]

, 2016
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their ...
Allen, Amy J. LaCroix, Amy L. Schneider, Andrew S. Allen, Annapurna Poduri, Anthony G. Marson, Auvin, Bagnall, Berg, Candace T. Myers, Carvill, Carvill, Carvill, Colton, Damaj, Daniel H. Lowenstein, David Coman, David B. Goldstein, de Ligt, Deepak Gill, Dennis Dlugos, Dimassi, Elliott Sherr, Erin L. Heinzen, Evan E. Eichler, Gemma L. Carvill, Georgina Hollingsworth, Hamdan, Heather C. Mefford, Hino-Fukuyo, Hugo Sampaio, Ingrid E. Scheffer, Jacinta M. McMahon, Jeremy Freeman, Jozef Gecz, Julia E. Saykally, Kim, Kong, Kong, Lynette G. Sadleir, Marina Nikanorova, Mark Corbett, Mark I. Rees, Matthew Zemel, McTague, Mefford, Michael P. Epstein, Michael R. Johnson, Nakamura, Norman Delanty, Papandreou, Patrick Carney, Patrick Cossette, Petrovski, Porreca, Reutens, Rikke S. Møller, Ruben Kuzniecky, Ruth Ottman, Samocha, Samuel F. Berkovic, Seo-Kyung Chung, Shoubridge, Slavé Petrovski, Smith-Packard, Sophie Calvert, Stephen Petrou, Tally Lerman-Sagie, Tanaka, Terence J. O’Brien, Tracy Glauser, William O. Pickrell, Xu   +72 more
core   +1 more source

Refractory Seizures and Encephalopathy in a Neonate: A Rare Case of Molybdenum Cofactor Deficiency Type B - A Case Report

Indian Pediatrics Case Reports
Background: Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive inborn error of metabolism causing deficiency in molybdenum-dependent enzymes, leading to accumulation of toxic metabolites such as sulfite, resulting in severe neurological ...
Pradeep Kumar Sanga, Kailas Randad, Qudsiya Ansari, Akash Sarkate   +3 more
doaj   +1 more source

Narcolepsy and emotional experience: a review of the literature [PDF]

, 2018
Narcolepsy is a chronic sleep disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis. This disease affects significantly the overall patient functioning, interfering with social, work, and ...
De Gennaro, Luigi, D’Atri, A., Gorgoni, M., Scarpelli, S., Schiappa, C.   +4 more
core   +1 more source

Anti-ARHGAP26 autoantibodies are associated with isolated cognitive impairment [PDF]

, 2018
Autoantibodies against the RhoGTPase-activating protein 26 (ARHGAP26) were originally identified in the context of subacute autoimmune cerebellar ataxia.
Bartels, Frederik, Finke, Carsten, Prüss, Harald   +2 more
core   +1 more source

Early Neuroimaging in Molybdenum Cofactor Deficiency

Pediatric Neurology Briefs, 2014
Investigators at Wakayama Medical University, Japan, report the neuroimaging features soon after birth in 2 siblings with molybdenum cofactor deficiency (MoCoD) type A.
J Gordon Millichap, John J Millichap
doaj   +1 more source

Ionotróp receptorok allosztérikus modulációja = Allosteric modulation of ionotropic receptors [PDF]

, 2011
A pentamer szerkezetű ionofór neurotranszmitter ?-aminovajsav, szerotonin és glicin receptorok (GABAAR, 5-HT3R, GlyR) szerkezetét és allosztérikus szabályozását vizsgáltuk meg.
Maksay, Gábor, Nemes, Péter
core  

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

Annals of Clinical and Translational Neurology, 2019
We report sleep phenotypes and polysomnographic findings in two siblings with a novel homozygous variant of the GLRA1 gene causing hereditary hyperekplexia (HH).
Régis Lopez, François Rivier, Jamel Chelly, Yves Dauvilliers   +3 more
doaj   +1 more source