دانلود مقالات ISI درباره نوع Niemann Pick نوع C + ترجمه فارسی

اختلال متابولیسم کلسترول در بیماری هانتینگتون

The impairment of cholesterol metabolism in Huntington disease

Keywords: نوع Niemann Pick نوع C; 24OHC; 24S-Hydroxycholesterol; 27OHC; 27-Hydroxycholesterol; ABC; ATP-binding cassette transporter; ACAT; Acyl-Coa:cholesterol acyltransferase; AD; Alzheimer disease; ApoE; Apolipoprotein E; BACHD; Bacterial artificial chromosome HD; BDNF; Brain-derived n

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2015 سفارش ترجمه

اثربخشی مگالواستات در بیماری نیمان-وی سی: تجربه تک مرکز

Efficacy of Miglustat in Niemann-Pick C disease: A single centre experience

Keywords: نوع Niemann Pick نوع C; NPC; Niemann-Pick disease type C; CS; composite score; BS; body surface; LE/L; late endosomes/lysosomes; ER; endoplasmic reticulum; Niemann-Pick type C; Miglustat; Disability scale; Mean annual change; Dysphagia; Epilepsy;

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

Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis

Keywords: نوع Niemann Pick نوع C; Niemann-Pick type C; Lysosomal diseases; Oxysterols; Cholestane-3β,5α,6β-triol; Chitotriosidase;

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

Chemical derivatization for enhancing sensitivity during LC/ESI-MS/MS quantification of steroids in biological samples: a review

Keywords: نوع Niemann Pick نوع C; 1,25(OH)2D2; 1α,25-dihydroxyvitamin D2; 1,25(OH)2D3; 1α,25-dihydroxyvitamin D3; 17(OH)P4; 17α-hydroxyprogesterone; 17(OH)P5; 17α-hydroxypregnenolone; 24,25(OH)2D3; 24R,25-dihydroxyvitamin D3; 25(OH)D2; 25-hydroxyvitamin D2; 25(OH)D3; 25-hydroxyvitamin

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2016 سفارش ترجمه

Bridging NCL research gaps

Keywords: نوع Niemann Pick نوع C; NCL; neuronal ceroid lipofuscinosis; LSD; lysosomal storage disease; ERT; enzyme replacement therapy; ER; endoplasmic reticulum; PoC; proof-of-concept; iPS cell; induced pluripotent stem cell; PD; Parkinson's disease; NPC; Niemann-Pick type C; SLOS; Smi

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

Identification of bovine NPC1 gene cSNPs and their effects on body size traits of Qinchuan cattle

Keywords: نوع Niemann Pick نوع C; cSNPs; coding single nucleotide polymorphisms; bp; base pair(s); NPC; Niemann-Pick type C; GLM; general linear model; He; observed heterozygosity; Ho; observed homozygosity; HWE; Hardy-Weinberg equilibrium; LD; linkage disequilibrium; MAS; marker assi

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

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C

Keywords: نوع Niemann Pick نوع C; NPC; Niemann-Pick type C; NPC1; NPC1 gene; NPC2; NPC2 gene; SMPD1; sphingomyelin phosphodiesterase 1 gene; LDL; low density lipoprotein; HGMD; The Human Gene Mutation Database; ALS; amyotrophic lateral sclerosis; DTR; deep tendon reflex; MRI; magnetic r

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice

Keywords: نوع Niemann Pick نوع C; Au1; primary auditory cortex; CPu; Caudate putamen; GFAP; glial fibrillary acidic protein; LEnt; lateral entorhinal cortex; LGNd; dorsal lateral geniculate nucleus; LSDs; Lysosomal storage disorders; MGN; medial geniculate nucleus; M1; primary motor corte

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2012 سفارش ترجمه

Loss of amyloid precursor protein in a mouse model of Niemann-Pick type C disease exacerbates its phenotype and disrupts tau homeostasis

Keywords: نوع Niemann Pick نوع C; Amyloid; Niemann-Pick type C; Alzheimer's disease; Cerebellum; Tau; Cholesterol;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2011 سفارش ترجمه

Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient

Keywords: نوع Niemann Pick نوع C; Niemann-Pick Type C; Miglustat; DTI; Fractional anisotropy;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2010 سفارش ترجمه