دانلود مقالات ISI درباره Gba + ترجمه فارسی

Research articleAutosomal dominant Parkinson's disease: Incidence of mutations in LRRK2, SNCA, VPS35 and GBA genes in Brazil

Keywords: Parkinson's disease; Autosomal dominant Parkinson's disease; LRRK2; SNCA; VPS35; GBA;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2016 سفارش ترجمه

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

Keywords: DBS; Dried blood spot on a newborn screening card; GAA; Acid α-glucosidase; GALC; Galactocerebrosidase; GBA; Glucocerebrosidase; GLA; α-Galactosidase A; IDUA; α-Iduronidase; MPS-I; Mucopolysaccharidosis-I; MS/MS; Tandem mass spectrometry; MRM; Multiple

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz

Keywords: FJD; Fundación Jiménez Díaz; GD; Gaucher disease; GBA; acid β-glucosidase; ERT; enzyme replacement therapy; Spanish Gaucher disease; Gaucher disease; GBA gene; Chitotriosidase;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

An adaptive two-stage energy-efficiency mechanism for the doze mode in EPON

Keywords: Energy-saving; EPON; GBA; Doze sleep duration

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Research reportAlteration of behavior and monoamine levels attributable to Lactobacillus plantarum PS128 in germ-free mice

Keywords: ALT; alanine aminotransferase; CPK; creatine phosphokinase; CREA; creatinine; DA; dopamine; EPM; elevated plus maze; FST; forced swim test; GBA; gut-brain axis; GF; germ-free; HPLC-ECD; high-performance liquid chromatography with electrochemical detec

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

Keywords: Dementia with Lewy bodies; Exome sequencing; Alzheimer dementia; Lewy body dementia; GBA; PSEN1; APP; APOE;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2016 سفارش ترجمه

Astrocytes and lysosomal storage diseases

Keywords: AD; Alzheimer's disease; DAMP; danger-associated molecular pattern; GBA; glucocerebrosidase; GFAP; glial fibrillary acidic protein; GLD; globoid cell leukodystrophy; INCL; infantile neuronal ceroid lipofuscinosis; JNCL; juvenile neuronal ceroid lipofusc

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2016 سفارش ترجمه

ReviewRegulation, Signaling, and Physiological Functions of G-Proteins

Keywords: GPCR; G-protein-coupled receptor; G-protein; guanine-nucleotide-binding regulatory proteins; β2-AR; β2-adrenergic receptor; GPR; G-protein regulator; GBA; Gα-binding and activating; RGS; regulators of G-protein signaling; RTK; receptor tyrosine kinase;

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2016 سفارش ترجمه

Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients

Keywords: PD; Parkinson's disease; MAPT; the microtubule-associated protein tau gene; GBA; the glucocerebrosidase gene; SMPD1; the sphingomyelin phosphodiesterase 1, ​acid lysosomal gene; MTHFR; the methylenetetrahydrofolate reductase gene; dbSNP; database of s

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2016 سفارش ترجمه

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression

Keywords: Parkinson disease; Age at onset; Motor progression; GBA; SNCA; MAPT;

دانلود رایگان متن کامل مقاله ISI 25 صفحه سال انتشار : 2016 سفارش ترجمه

The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews

Keywords: Parkinson's disease; SMPD1; GBA; LRRK2; Niemann-Pick disease; Gaucher disease;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)

Keywords: Glucosylceramide; Spastic paraplegia; Cerebellar ataxia; Miglustat; GBA2; Enzyme activity; SPG46; Cer; ceramide; GBA; glucocerebrosidase; GBA2; β-glucosidase 2; Glc; glucose; GlcCer; glucosylceramide; NB-DGJ; N-butyldeoxygalactonojirimycin; NB-DNJ; N-but

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies

Keywords: SMPD1; GBA; Parkinson's disease; Genetics;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

Genética de la artrosis

Keywords: ADNmt; ADN mitocondrial (mitochondrial DNA); ALDH1A2; retinaldehído deshidrogenasa 2 (retinaldehyde dehydrogenase 2); ASTN2; astrotactina 2 (astrotactin-2); BMI; índice de masa corporal (body mass index); BMP; proteína morfogenética ósea (bone minera

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Glucocerebrosidase gene therapy prevents α-synucleinopathy of midbrain dopamine neurons

Keywords: GBA; α-Synuclein; Parkinson's disease; Glucocerebrosidase; Autophagy; Gene therapy; Neuroprotection;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Neurodegenerative CSF markers in genetic and sporadic PD: Classification and prediction in a longitudinal study

Keywords: Parkinson; CSF; Tau; Abeta; LRRK2; GBA;

دانلود رایگان متن کامل مقاله ISI 26 صفحه سال انتشار : 2015 سفارش ترجمه

Novel and functional ABCB1 gene variant in sporadic Parkinson's disease

Keywords: ABCB1; ATP-binding cassette sub-family B member 1; ATP13A2; Lysosomal P-type transmembrane cation-transporting ATPase, PARK9; BBB; Blood-brain barrier; DJ-1; PARK7 gene; DSVs; DNA sequence variants; FOXO1; Forkhead box factor O1; FOXO3a; Forkhead box fa

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Clinicogenetic study of GBA mutations in patients with familial Parkinson's disease

Keywords: Parkinson's disease/Parkinsonism; GBA; Dementia; Gaucher disease;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Development and application to clinical practice of a validated HPLC method for the analysis of β-glucocerebrosidase in Gaucher disease

Keywords: GD; Gaucher disease; GBA; β-glucocerebrosidase; GlcCer; glucocerebroside; FACS; fluorescence-activated cell sorter; PNP-Glc; 4-nitrophenyl-β-d-glucopyranoside; PNP; p-nitrophenol; ERT; enzyme replacement therapy; IMG; imiglucerase; EMA; European Medicin

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Transcriptomics profiling and steroid production in mummichog (Fundulus heteroclitus) testes after treatment with 5α-dihydrotestosterone

Keywords: 11KT; 11-ketotestosterone; ABCC2; ATP-binding cassette, sub-family C (CFTR/MRP), member 2; ABCC3; ATP-binding cassette, sub-family C (CFTR/MRP), member 3; ABCG8; ATP-binding cassette, sub-family G (WHITE), member 8; ACY1; aminoacylase 1; ADAR; adenosine d

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2014 سفارش ترجمه

Comprehensive LRRK2 and GBA screening in Portuguese patients with Parkinson's disease: Identification of a new family with the LRRK2 p.Arg1441His mutation and novel missense variants

Keywords: Parkinson's disease; Genetics; LRRK2; GBA; R1441H; Portugal;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform

Keywords: LSDs; lysosomal storage diseases; DBS; dried blood spot; NBS; newborn screening; GAA; acid α-glucosidase; GLA; acid α-galactosidase; IDS; acid α-l-iduronate-2-sulfatase; GBA; acid β-d-glucosidase; IDU; acid α-l-iduronidase; ALL; advanced liquid logic

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Consumo de fármacos relacionados con el tratamiento de la diabetes mellitus y otros factores de riesgo cardiovascular en la población española. Estudio Di@bet.es

Keywords: ADO; antidiabéticos orales; DM; diabetes mellitus; GBA; glucemia basal alterada; IECA; inhibidores de la enzima de conversión de la angiotensina; IG; intolerancia a la glucosa; IMC; índice de masa corporal; Consumo de fármacos; Diabetes mellitus; Hipe

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2013 سفارش ترجمه

Genetic analysis of SIRT1 gene promoter in sporadic Parkinson's disease

Keywords: ATG; autophagy-related genes; CREB; cAMP response element-binding protein; DJ-1; Parkinson's disease gene 7; DRAM; damage-regulated autophagy modulator; FOXO; forkhead box transcription factor; GBA; lysosomal glucocerebrosidase; HIC1; hypermethylated in

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene

Keywords: LSD; lysosomal storage disease; ERT; enzyme replacement therapy; DBS; dried blood spots; GBA; acid β-glucosidase; GAA; acid α-glucosidase; GLA; acid α-galactosidase; GD; Gaucher disease; IDUA; α-l-iduronidase; MPS; mucopolysaccharidosis; Acid α-galac

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

The Clinical Epidemiology of Urachal Carcinoma: Results of a Large, Population Based Study

Keywords: urinary bladder; urachus; carcinoma; cystectomy; Netherlands; GBA; Population Municipality Registry; NCR; Netherlands Cancer Registry; OS; overall survival; PSM; positive surgical margin; RS; relative survival; UraC; urachal carcinoma;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

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

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2012 سفارش ترجمه

β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease

Keywords: GD; Gaucher disease; GBA; β-Glucocerebrosidase; PD; Parkinson's disease; EOPD; Early onset Parkinson's disease; β-Glucocerebrosidase gene mutations; Parkinson's disease;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease

Keywords: Parkinson's disease; GBA; GIGYF2; ATP13A2

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2010 سفارش ترجمه

Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China

Keywords: Parkinson's disease (PD); GBA; L444P;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2010 سفارش ترجمه

Changes in gamma-band power and phase synchronization with the difficulty of a visual oddball task

Keywords: ERP; Event-related potential; GBA; Gamma-band activity; Event-related potential (ERP); Visual oddball task; Task difficulty; Gamma-band activity (GBA); Phase synchronization;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2008 سفارش ترجمه

Epidemiología, genética y mecanismos patogénicos de la diabetes mellitus

Keywords: Diabetes mellitus tipo 2; Epidemiología; Fisiopatología; Type-2 diabetes mellitus; Epidemiology; Pathophysiology; AGL; ácidos grasos libres; DM; diabetes mellitus; DM1; diabetes mellitus tipo 1; DM2; diabetes mellitus tipo 2; GBA; glucemia basal altera

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2007 سفارش ترجمه

Generation of a conditional knockout of murine glucocerebrosidase: Utility for the study of Gaucher disease

Keywords: Gaucher disease; Glucocerebrosidase; Mouse model; Cre-lox; Flp-FRT; Conditional knockout; Hematopoietic cell; Tie2-Cre; Gaucher cell; Splenomegaly; GBA

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2007 سفارش ترجمه

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease

Keywords: Gaucher disease; GBA; Ichthyosis; Perinatal form; [L444P;E326K] allele; I260T mutation;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2005 سفارش ترجمه

Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations

Keywords: Gaucher disease; GBA; Mutation; Colombian patients; Glucocerebrosidase deficiency;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2005 سفارش ترجمه

The Plasmodium falciparum sexual development transcriptome: A microarray analysis using ontology-based pattern identification

Keywords: OPI; ontology-based pattern identification; GO; gene ontology; ANOVA; analysis of variance; MOID; match-only integral distribution; GBA; guilt-by-association; GlcNAc; N-acetyl glucosamine; PBS; phosphate-buffered saline; BSA; bovine serum albumin; Plasmod

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2005 سفارش ترجمه