Keywords: Exfoliation syndrome; Glaucoma; Pseudoexfoliation; LOXL1; CACNA1A; TGF-β1; Homocysteine; GWAS; Gene-environment interaction;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: AgNPs; silver nanoparticles; SD; Sprague-Dawley; CACNA1A; calcium channel protein; KCNA1; potassium channel protein; CGCs; cerebellum granule cells; BBB; blood-brain barrier; CNS; central nervous system; ICP-MS; inductively coupled plasma mass spectro
Keywords: Alternating hemiplegia of childhood; ATP1A3; CACNA1A; Genetics; Ketogenic diet; Neurodevelopmental syndrome
Keywords: Ataxia; Episodic ataxia type 2; EA2; Channelopathy; CACNA1A; Voltage-gated calcium channel; Purkinje cell; Cerebellar granule cell; Cre; Knockin;
Keywords: CACNA1A; epilepsy; epileptic encephalopathy; channelopathy; calcium; genetic; lamotrigine
CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report
Keywords: CACNA1A; Early-onset epileptic encephalopathy; Hyperekplexia;
Alcohol withdrawal upregulates mRNA encoding for CaV2.1-α1 subunit in the rat inferior colliculus
Keywords: Cacna1a; P/Q-type calcium channel; Audiogenic seizures;
Atassie episodiche
Keywords: Atassia episodica; CACNA1A; KCNA1; Canalopatia;
Polyglutamine expansion diseases: More than simple repeats
Keywords: Neurodegenerative disease; Polyglutamine protein; Aggregation modulation; Post-translational modification; Molecular partner; Ataxin-3; APR; aggregation-prone region; αB-c; AlphaB-crystallin; AR; androgen receptor; Atx1; ataxin-1; Atx3; ataxin-3; Atn1; a
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report
Keywords: Migraine; Familial hemiplegic migraine; Calcium channel; CACNA1A;
Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation
Keywords: Episodic ataxia; SCA6; CACNA1A; Acetazolamide; Gender differences;
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay
Keywords: whole exome sequencing; genetics; CACNA1A; P/Q-type calcium channel; congenital hypotonia; developmental delay
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
Keywords: Paroxysmal tonic upward gaze; CACNA1A; Ataxia
Absence-like seizures and their pharmacological profile in tottering-6j mice
Keywords: Antiepileptic drug; Ataxia; Cacna1a; Electroencephalograms; Spike-and-wave discharge; Tottering-6j mice;
Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population
Keywords: Drug-resistant epilepsy; Single nucleotide polymorphism; CACNA1A; CACNA1C; CACNA1H; Association study
Effects of age-related loss of P/Q-type calcium channels in a mice model of peripheral nerve injury
Keywords: Cacna1a; P/Q-type channels; Allodynia; Nerve regeneration; Schwann cells; Muscle;
Case studyA loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy
Keywords: Benign paroxysmal torticollis of infancy; CACNA1A; P/Q channel; Patch clamp; Genetics;
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression
Keywords: Spinocerebellar ataxia; SCA6; EA2; FHM1; CACNA1A; Ion channel gene defects; Molecule dynamic simulation
An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation
Keywords: GABA-A; CACNA1A; PET; SCA6; FHM1; Flumazenil
Differential trigeminovascular nociceptive responses in the thalamus in the familial hemiplegic migraine 1 knock-in mouse: A Fos protein study
Keywords: CGRP; calcitonin gene-related peptide; CSD; cortical spreading depression; CM; centromedian thalamic nucleus; FHM; familial hemiplegic migraine; PF; parafascicular thalamic nucleus; Po; Posterior thalamic nucleus; TCC; trigeminocervical complex; TNC; Trig
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome
Keywords: CACNA1A; Epilepsy; SCN1A; Electrophysiology; Molecular genetics
Atassie episodiche
Keywords: Atassia episodica; EA1; EA2; KCNA1; CACNA1A;
Computational prediction of the PolyQ and CAG repeat spinocerebellar ataxia network based on sequence identity to untranslated regions
Keywords: SCA; spinocerebellar ataxia; PolyQ; poly glutamine; LTP; long term potentiation; Nt; nucleotide; UTR; untranslated region; DAVID; Database for Annotation, Visualization and Integrated Discovery; CAG; cytosine-adenosine-guanosine; RefSeq; NCBI Referenc
Hemiconvulsion-hemiplegia-epilepsy syndrome: Current understandings
Keywords: Hemiconvulsion; Hemiplegia; Febrile seizure; Status epilepticus; Edema; CACNA1A; Epileptogenesis;
A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline
Keywords: Hemiplegic migraine; CACNA1A; Ataxia; Cognitive impairment; Cerebellar dysfunction; Mutation
Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice
Keywords: CACNA1A; gene encoding P/Q type α1A subunit voltage-dependent calcium channel; CaV2.1; α1A subunit of P/Q voltage-dependent calcium channel; EA2; Episodic Ataxia type 2; tg; tottering; tg-la; leaner; rkr; rocker; rolling-nagoya; tg-rol; PTC; premature t
Splice isoform-specific suppression of the CaV2.1 variant underlying spinocerebellar ataxia type 6
Keywords: Neurodegeneration; Autosomal dominant disorder; Spinocerebellar ataxia; Polyglutamine; Cav2.1; CACNA1A; Calcium channel; Alternative splicing; RNA interference; MicroRNA; siRNA; shRNA; Allele specific silencing; Gene therapy;
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2
Keywords: EA2; Episodic ataxia; Calcium channel; CACNA1A; Acetazolamide; Paroxysmal torticollis
The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility
Keywords: Migraine; Hemiplegic migraine; Basilar-type migraine; CACNA1A; SNPs;
Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene
Keywords: Migraine; CACNA1A; Mutation analysis; Functional analysis; Episodic ataxia type 2; EA2
Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies
Keywords: tottering alleles; Ca(v)2.1 calcium channels; semi-dominant mutation; BHK; baby hamster kidney; B6; B10, BALB, C3H and CAST, five inbred strains of mice; CACNA1A; calcium channel gene encoding the Ca(v)2.1 or P/Q-type subunit; cDNA; complementary DNA; CSD
The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel α1A subunit gene and exhibits absence seizures
Keywords: Rat disease model; Groggy; Ataxia; Cacna1a; Spike-and-wave discharge; Antiepileptic drug
Dominant-negative suppression of Cav2.1 currents by α12.1 truncations requires the conserved interaction domain for β subunits
Keywords: CACNA1A; P/Q-type; Channelopathy; Cerebellum; Stress; Cav β subunit
Gene dosage-dependent transmitter release changes at neuromuscular synapses of Cacna1a R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness
Keywords: CACNA1A; Cav2.1 mutation; migraine; neuromuscular junction; neurotransmitter release; ACh; acetylcholine; ANOVA; analysis of variance; BTx; α-bungarotoxin; CMAP; compound muscle action potential; CSD; cortical spreading depression; EA2; episodic ataxia t