Keywords: آتاکسی spinocerebellar; CCFS; composite cerebellar functional severity score; CFE; connectivity-based fixel enhancement; CSD; constrained spherical deconvolution; CST; corticospinal tract; DTI; diffusion tensor imaging; FA; fractional anisotropy; FBA; fixel-based analysis; FC; f
مقالات ISI آتاکسی spinocerebellar (ترجمه نشده)
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Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia 2; SCA2; Non-ataxic symptoms; Polyglutamine repeat; CAG, Trinucleotide repeat disorder; AAO; Age at onset; AD; Autosomal dominant; CAG; Cytosine-Adenine-Guanine; CI; Confidence interval; DNA; Deoxyribonucleic acid; ICARS; Internatio
Keywords: آتاکسی spinocerebellar; Aβ; beta-amyloid; APOE; apolipoprotein E; APP; amyloid precursor protein; AD; Alzheimer's disease; CRISPR; clustered regularly interspaced short palindromic repeats; DAT; dopamine transporter; ER; estrogen receptor; FAD; familial Alzheimer's disease;
Keywords: آتاکسی spinocerebellar; Huntington disease; Chorea-acanthocytosis; Spinocerebellar ataxia; HDL2; Genetics;
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; Degeneration; VBM; Atrophy; Classification;
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; Dystonia; Trinucleotide repeat; Modifier;
Keywords: آتاکسی spinocerebellar; Genetic counsel; Spinocerebellar ataxia; Presymptomatic diagnosis; Neurodegenerative disorders; Ethics; Asesoramiento genético; Ataxias espinocerebelosas; Diagnóstico presintomático; Trastornos neurodegenerativos; Ãtica;
Keywords: آتاکسی spinocerebellar; Calidad de vida relacionada con la salud; Cuestionario; Ataxias espinocerebelosas; Pacientes; Short Form 36 Health Survey; Health-related quality of life; Questionnaire; Spinocerebellar ataxia; Patients; Short Form 36 Health Survey;
Keywords: آتاکسی spinocerebellar; ALS; amyotrophic lateral sclerosis; AR; androgen receptor; BDNF; brain-derived neurotrophic factor; CGRP; calcitonin gene-related peptide; ChAT; choline acetyltransferase; DAB; diaminobenzidine; DLN; dorsal nucleus; ENK; enkephalin; GFAP; glial fibrillary
Keywords: آتاکسی spinocerebellar; Ataxia; Calcium; Spinocerebellar ataxia; Episodic ataxia; Cerebellum; Purkinje cells;
Keywords: آتاکسی spinocerebellar; Amyotrophic lateral sclerosis; Parkinson's disease; Progressive supranuclear palsy; Multiple system atrophy; Spinocerebellar ataxia; Endothelial function;
Keywords: آتاکسی spinocerebellar; Cerebellum; Cerebellar lobule segmentation; Graph cuts; Magnetic resonance imaging; Multi-atlas labeling; Random forest classifier; Spinocerebellar ataxia;
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; FTD/ALS; Frontotemporal dementia; RNA foci; Splicing misregulation; RAN translation;
Keywords: آتاکسی spinocerebellar; SCA; spinocerebellar ataxia; NEI VFQ; National Eye Institute Visual Function Questionnaire; NOS; neuro-ophthalmic supplement; VRQOL; vision related quality of life; SARA; scale for assessment and rating of ataxia; ETDRS; early treatment diabetic retinopat
Keywords: آتاکسی spinocerebellar; Diffusion tensor imaging; Diffusion weighted imaging; Multisystem atrophy; Q-ball imaging; Spinocerebellar ataxia
Keywords: آتاکسی spinocerebellar; AD; Alzheimer's disease; ADCA; autosomal dominant cerebellar ataxia; AMPA receptor; α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor; APP; amyloid precursor protein; Atx2mut; mutant ataxin-2; Aβ peptides; amyloid beta peptides; BACE1; beta
Keywords: آتاکسی spinocerebellar; Incoordination; Plasticity; Rehabilitation; Spinocerebellar ataxias; C-T; conditioning-test; CPG; central pattern generator; H-reflex; Hoffman reflex; ICARS; International Cooperative Ataxia Rating Scale; MVC; maximal voluntary contraction; RPE; rating of
Keywords: آتاکسی spinocerebellar; Machado-Joseph disease; Sleep disorders; Polysomnography; Excessive fragmentary myoclonus; Spinocerebellar ataxia; Nonmotor symptoms;
Keywords: آتاکسی spinocerebellar; Essential tremor; Spinocerebellar ataxia; Purkinje cell; Neurodegeneration; Cerebellum; Molecular layer;
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; Mutational frequency; Mutational prevalence; Machado-Joseph disease; Repeat expansion;
Keywords: آتاکسی spinocerebellar; Dystonia; Extrapyramidal signs; Movement disorders; Parkinsonism; Spinocerebellar ataxia; Tremor
Keywords: آتاکسی spinocerebellar; Friedreich's ataxia; Spinocerebellar ataxia; Autosomal recessive cerebellar ataxia; Autosomal dominant cerebellar ataxia; SCA; Hereditary ataxia; Expanded triplet repeat disorders;
Keywords: آتاکسی spinocerebellar; Machado-Joseph disease; Spinocerebellar ataxia; Oxidative stress; Genotoxicity; Antioxidant enzymes;
Keywords: آتاکسی spinocerebellar; ATN1; atrophin-1; CNS; central nervous system; DRPLA; dentatorubral-pallidoluysian atrophy; HD; Huntington's disease; polyQ; polyglutamine; polyL; polyleucine; SCA; spinocerebellar ataxia; TPEN; N,N,Nâ²,Nâ²-tetrakis (2-pyridylmethyl) ethylenediamine; Z-
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; Ataxic dysarthria; Progression of dysarthria; Perceptual analysis; Instrumental acoustic analysis; Speech and language pathology intervention;
Keywords: آتاکسی spinocerebellar; (tPA); tissue-type plasminogen activator; (SCA); spinocerebellar ataxia; (HD); Huntington's disease; (OPT); Optical Projection Tomography; Tissue-type plasminogen activator; Plasminogen activation; Purkinje neuron; Ataxia; Calbindin; Huntington's disease;
Keywords: آتاکسی spinocerebellar; Spinocerebellar Ataxia; Autosomal dominantly inherited neurodegenerative disease; Electrophysiology; Nerve conduction study; Evoked potentialAtaxie spinocérébelleuse; Maladie neurodégénérative héréditaire autosomique dominante; Électrophysiologie; Étude d
ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis
Keywords: آتاکسی spinocerebellar; Amyotrophic lateral sclerosis; Spinocerebellar ataxia; Frontotemporal dementia; ATXN1; C9orf72;
Can pre-screening vestibulocerebellar involvement followed by targeted training improve the outcomes of balance in cerebellar ataxia?
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; Balance; Vestibulocerebellum; Subjective visual vertical;
Investigation on modulation of DNA repair pathways in Chinese MJD patients
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; DNA repair pathways; Age at onset; Genetic modifiers;
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
Keywords: آتاکسی spinocerebellar; AD; autosomal dominant; AOA1; ataxia with oculomotor apraxia type 1; AR; autosomal recessive; ARCA; autosomal recessive cerebellar ataxia; ATM; ataxia talengiectasia; FA; Friedreich ataxia; GBA2; b-glucosidase 2; HSPs; hereditary spastic paraplegias; NGS;
Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patients
Keywords: آتاکسی spinocerebellar; Polyglutamine disease; MSA; Spinocerebellar ataxia; SCA; Huntington disease;
Challenges in sleep stage R scoring in patients with autosomal dominant spinocerebellar ataxias (SCA1, SCA2 and SCA3) and oculomotor abnormalities: a whole night polysomnographic evaluation
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; Occulomotor abnormalities; Rapid eye movement; Polysomnography; Stage R scoring rules;
Pathophysiological consequences of isoform-specific IP3 receptor mutations
Keywords: آتاکسی spinocerebellar; ALS; amyotrophic lateral sclerosis; Bcl-2; B-cell lymphoma-2; CA8; carbonic anhydrase 8 (carbonic anhydrase-related protein); CSCC; cervical squamous cell carcinoma; CTT; C-terminal tail; DKO; double knockout; FAD; familial Alzheimer's disease; GS; Gilles
Stance instability in preclinical SCA1 mutation carriers: A 4-year prospective posturography study
Keywords: آتاکسی spinocerebellar; Gait disorders; Hereditary ataxia; Spinocerebellar ataxia; Trinucleotide repeat diseases; Preclinical gene mutation carriers;
Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review
Keywords: آتاکسی spinocerebellar; ITPR1; inositol 1,4,5-triphosphate receptor type 1; InsP3; inositol 1,4,5-triphosphate; SCA; spinocerebellar ataxia; GS; Gillespie syndrome;
Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy
Keywords: آتاکسی spinocerebellar; Spinocerebellar ataxia; Parkinson's disease; Epilepsy; Cognitive disorders; KCND3 mutation; Neurogenetics; Neuropsychiatric disorder;
The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia
Keywords: آتاکسی spinocerebellar; CA; cerebellar ataxia; PC; Purkinje cells; SCA; spinocerebellar ataxia; DRPLA; dentatorubral-pallidoluysian atrophy; MSA-C; multiple system atrophy-cerebellar type; MCP; middle cerebellar peduncles; CTCAE; Common Terminology Criteria for Adverse Events;
Consideraciones éticas en el diagnóstico presintomático de ataxias espinocerebelosas autosómico dominantes
Keywords: آتاکسی spinocerebellar; Asesoramiento genético; Ataxias espinocerebelosas; Diagnóstico presintomático; Trastornos neurodegenerativos; Ãtica; Genetic counsel; Spinocerebellar ataxia; Presymptomatic diagnosis; Neurodegenerative disorders; Ethics;
ReviewSpinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration
Keywords: آتاکسی spinocerebellar; miRNA; Spinocerebellar ataxia; Purkinje cells; Neurodegeneration; Cerebellum;
Neuregulin-1 protects mouse cerebellum against oxidative stress and neuroinflammation
Keywords: آتاکسی spinocerebellar; Nrg1; neuregulin-1; rNrg1β; recombinant Nrg1β; ErbB; epidermal growth factor receptor; LPS; lipopolysaccharides; CGNs; cerebellar granule neurons; AD; Alzheimer's disease; PD; Parkinson's disease; HD; Huntington's disease; ALS; amyotrophic lateral
n-Butylidenephthalide exhibits protection against neurotoxicity through regulation of tryptophan 2, 3 dioxygenase in spinocerebellar ataxia type 3
Keywords: آتاکسی spinocerebellar; Machado-Joseph disease; Polyglutamine disease; Spinocerebellar ataxia; Tryptophan 2, 3-dioxygenase; Tryptophan metabolism;
Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles
Keywords: آتاکسی spinocerebellar; Saccade metrics; Cerebellum; Spinocerebellar ataxia; Multiple system atrophy; Fastigial nucleus; Peak velocity;
Single-step blood direct PCR: A robust and rapid method to diagnose triplet repeat disorders
Keywords: آتاکسی spinocerebellar; Blood direct PCR; Triplet repeat disorder; Spinocerebellar ataxia; FRDA;
Mesencephalic astrocyte-derived neurotrophic factor (MANF), a new player in endoplasmic reticulum diseases: structure, biology, and therapeutic roles
Keywords: آتاکسی spinocerebellar; AAV; adeno-associated virus; AKI; acute kidney injury; ARMET; arginine-rich mutated in early tumors; ATF6; activating transcription factor 6; BiP; Ig-binding protein; CDNF; conserved dopamine neurotrophic factor; CHOP; C/EBP homologous protein; DM; diabet
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
Keywords: آتاکسی spinocerebellar; GS; Gillespie syndrome; InsP3; Inositol 1,4,5 tri-phosphate receptor; IRBIT; InsP3-binding domain; CARP; Carbonic anhydrase-related protein VIII; SCA; Spinocerebellar ataxia; NPCA; Nonprogressive congenital ataxia; GRM1; Metabotropic glutamate receptor; P
Operation of a P300-based brain-computer interface by patients with spinocerebellar ataxia
Keywords: آتاکسی spinocerebellar; BCI; BMI; P300; Visual stimuli; Spinocerebellar ataxia;
RNA FISH for detecting expanded repeats in human diseases
Keywords: آتاکسی spinocerebellar; DM; myotonic dystrophy; HD; Huntington's disease; SCA; spinocerebellar ataxia; DRPLA; dentatorubral-pallidoluysian atrophy; HDL2; Huntington disease-like 2; ALS/FTD; amyotrophic lateral sclerosis/frontotemporal dementia; FXTAS; fragile X-associated trem
Research reportTargeting the prodromal stage of spinocerebellar ataxia type 17 mice: G-CSF in the prevention of motor deficits via upregulating chaperone and autophagy levels
Keywords: آتاکسی spinocerebellar; G-CSF; Spinocerebellar ataxia; SCA17; Chaperone; Autophagy;
Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR
Keywords: آتاکسی spinocerebellar; Trinucleotide repeat disorders; Fragile X syndrome; Myotonic dystrophy type 1; Spinocerebellar ataxia; Friedreich Ataxia and Huntington Disease