دانلود مقالات ISI درباره Ad, Autosomal Dominant + ترجمه فارسی

دینامیک میتوکندریایی و بیماری های عصبی محیطی به ارث رسیده است

Mitochondrial dynamics and inherited peripheral nerve diseases

Keywords: AD, autosomal dominant; AR, autosomal recessive; CFEOM, congenital fibrosis of extra-ocular muscles; CMAP, compound muscle action potential; CMT, Charcot-Marie-Tooth disease; COX, cytochrome c oxidase; dHMN, distal hereditary motor neuropathy; DI, dominan

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2015 سفارش ترجمه

Charcot–Marie–Tooth: Are you testing for proteinuria?

Keywords: Charcot–Marie–Tooth disease; Focal segmental glomerulosclerosis; Proteinuria; INF2ACE, I angiotensin converting enzyme inhibitor; AD, autosomal dominant; ARB, angiotensin receptor blocker; CDC42, cell division cycle 42; CMT, Charcot–Marie–Tooth disease; D

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

Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6

Keywords: Woolly hair; Hypotrichosis; LPAR6; LPA6; LIPHWH, woolly hair; AD, autosomal dominant; AR, autosomal recessive; IRS, inner root sheath; HF, hair follicle; LPA, lysophosphatidic acid; GPCR, G protein–coupled receptor; PCR, polymerase chain reaction; RT, rev

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

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

Keywords: AD, autosomal dominant; ALP, alkaline phosphatase; AR, autosomal recessive; bp, base pair; BTM, bone turnover marker; CRT, creatinine; DPD, deoxypyridinoline; ESH, expansile skeletal hyperphosphatasia; FEO, familial expansile osteolysis; JPD, juvenile Pag

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: Report of a Chinese family with intra-familial phenotypical diversity

Keywords: PEB, Pretibial epidermolysis bullosa; DDEB, dystrophic epidermolysis bullosa; DEB, Dystrophic epidermolysis bullosa; RDEB, Recessive dystrophic epidermolysis bullosa; AD, Autosomal dominant; DHPLC, denaturing high-performance liquid chromatographyPretibia

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

Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia

Keywords: HSP, Hereditary spastic paraplegia; AD, autosomal dominant; AR, autosomal recessive; SPG, spastic paraplegia gene; MMSE, Mini-Mental State Examination; MRI, magnetic resonance imaging; EEG, electroencephalogram; CSF, cerebrospinal fluid; NGS, next-generat

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

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

Keywords: AD, autosomal dominant; AR, autosomal recessive; CMAP, compound muscle action potentials; CMT, Charcot–Marie–Tooth; CNS, central nervous system; ER, endoplasmic reticulum; HMN, hereditary motor neuropathy; HMSN, hereditary motor and sensory neuropathy; HN

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2013 سفارش ترجمه

Kinases and kinase signaling pathways: Potential therapeutic targets in Parkinson's disease

Keywords: AD, autosomal dominant; ALP, autophagy-lysosome pathway; AR, autosomal recessive; CCVs, clathrin-coated vesicles; CDK, cyclin-dependent kinase; DA, dopamine; ERK, extracellular signal-regulated kinases; 4E-BP, 4E (eIF4E)-binding protein; GAK, cyclin-G-ass

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

Hereditary peripheral neuropathies of childhood: An overview for clinicians

Keywords: AD, autosomal dominant; AR, autosomal recessive; CMT, Charcot–Marie-Tooth disease; DTR, deep tendon reflexes; EM, electron micrography; EMG, electromyogram; FA, Friedreich’s ataxia; GAN, giant axonal neuropathy; MF, myelinated fibre; MNCS, motor nerve con

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2011 سفارش ترجمه

Familial pure paroxysmal kinesigenic dyskinesia in Han population from the Chinese mainland: A new subtype?

Keywords: PKD, paroxysmal kinesigenic dyskinesia; AD, autosomal dominant; AR, autosomal recessive; LOD, logarithm of odds; NPL, nonparametric linkage; PD, paroxysmal dyskinesias; PKC, paroxysmal kinesigenic choreoathetosis; PDC, paroxysmal dystonic choreoathetosis;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2008 سفارش ترجمه

Telomerase as a clinical target: Current strategies and potential applications

Keywords: AA, aplastic anemia; AD, autosomal dominant; ALT, alternative lengthening of telomeres; ATM, ataxia telangiectasia mutated protein; AZT, 3′-azido-2′,3′-dideoxythymidine; BRCA2, breast cancer 2; c-Myc, myelocytomatosis oncogene; DC, dyskeratosis congenita;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2007 سفارش ترجمه

Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

Keywords: AFP, alpha-fetoprotein; ALS4, amyotrophic lateral sclerosis type 4; Ab, Antibody; AOA2, Ataxia-Ocular Apraxia 2; AD, autosomal dominant; AR, autosomal recessive; EYFP, enhanced YFP expression vector; ESTs, expressed sequence tags; FCS, fetal calf serum; I

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2006 سفارش ترجمه