Keywords: آتاکسی مخچه; AD; Alzheimer's disease; CaM; calmodulin; CNS; central nervous system; PMCA; plasma membrane calcium pump; Calcium homeostasis; Cerebellar ataxia; Excitotoxicity; Neurodegenerative disease; Plasma membrane calcium ATPase;
مقالات ISI آتاکسی مخچه (ترجمه نشده)
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Keywords: آتاکسی مخچه; Gait; Walking; Psychometrics; Cerebellar ataxia; Spinocerebellar degeneration; Review;
Keywords: آتاکسی مخچه; Magnetic resonance imaging; Cerebellar ataxia; Attention deficit hyperactivity disorder; Autism;
Keywords: آتاکسی مخچه; Cerebellar ataxia; Neural control; Obstacle avoidance; Online gait corrections; Stepping accuracy;
Keywords: آتاکسی مخچه; Brain biopsy; Cerebellar ataxia; Creutzfeldt-Jakob disease; Brownell-Oppenheimer syndrome;
Keywords: آتاکسی مخچه; Cerebellar ataxia; Motor control; Rock climbing; Movement disorders;
Keywords: آتاکسی مخچه; Cerebellar ataxia; Transcranial direct current stimulation; Cerebellar stimulation;
Keywords: آتاکسی مخچه; Plasma membrane Ca2+ pumps; Pump isoforms; PMCA mutations; Genetic deafness; Cerebellar ataxia; Spastic paraplegia;
Keywords: آتاکسی مخچه; Alcoholic cerebellar degeneration; Alcohol intake; Brief Ataxia Rating Scale; Cerebellar ataxia; Population-based study; Ecuador;
Keywords: آتاکسی مخچه; Trouble de la marche; Paraparésie spastique; Maladie de Parkinson; Neuropathie Périphérique; Ataxie cérébelleuse; Gait disorders; Spastic paraparesis; Parkinson disease; Peripheral neuropathy; Cerebellar ataxia;
Keywords: آتاکسی مخچه; Classification; Charcot-Marie-Tooth; HSAN; Spastic paraplegia; Cerebellar ataxia;
Keywords: آتاکسی مخچه; Video gait analysis; Locomotion; Amyotrophic lateral sclerosis; Huntington's disease; Cerebellar ataxia; Neurodegeneration;
Keywords: آتاکسی مخچه; animal model; cerebellar abiotrophy; cerebellar ataxia; goat;
Keywords: آتاکسی مخچه; Gait; Balance; Cerebellar ataxia; Friedreich's ataxia;
Keywords: آتاکسی مخچه; Cerebellar ataxia; Quantitative evaluation; Accelerometer; Biomarker; The Scale for the Assessment and Rating of Ataxia (SARA); Gait analysis;
Keywords: آتاکسی مخچه; Chronic acquired hepatocerebral degeneration; Cerebellar ataxia; Portosystemic shunt; Liver disease; MRI; Neuroradiology;
Keywords: آتاکسی مخچه; Postural and balance disorders; Cerebellar ataxia; Rehabilitation; Posturography; Ataxie cérébelleuse posturale; Rééducation; Posturographie;
Keywords: آتاکسی مخچه; Mitochondrial diseases; MtDNA; Nuclear genome; Progressive external ophthalmoplegia; Exercise intolerance; Cerebellar ataxia; Refractory epilepsy; Movement disorders; Maladies mitochondriales; ADNmt; Génome nucléaire; Ophtalmoplégie progressive externe
Keywords: آتاکسی مخچه; Opsoclonus; Cerebellar ataxia; Thymic carcinoma; Paraneoplastic neurological syndrome; Onconeural antibodies; Surgical removal;
Keywords: آتاکسی مخچه; Cerebellum; Adaptive locomotion; Cerebellar ataxia; Context dependency;
Keywords: آتاکسی مخچه; pediatric; cerebellar ataxia
Keywords: آتاکسی مخچه; Stiff person syndrome; Cerebellar ataxia; Cognitive impairment; Glutamic acid decarboxylase antibodies
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant
Keywords: آتاکسی مخچه; ITPR1; Gillespie syndrome; Cerebellar ataxia; Aniridia; Intellectual disability;
Long-term clinical follow-up of a patient with non-paraneoplastic cerebellar ataxia associated with anti-mGluR1 autoantibodies
Keywords: آتاکسی مخچه; Autoimmune; Cerebellar ataxia; Immunotherapy; Metabotropic glutamate receptor 1 (mGluR1) autoantibody;
Neurologic disorders associated with anti-glutamic acid decarboxylase antibodies: A comparison of anti-GAD antibody titers and time-dependent changes between neurologic disease and type I diabetes mellitus
Keywords: آتاکسی مخچه; Anti-GAD antibody; Neurologic disorders; Stiff person syndrome; Cerebellar ataxia; Type I diabetes mellitus;
A systematic review of the gait characteristics associated with Cerebellar Ataxia
Keywords: آتاکسی مخچه; Cerebellar ataxia; Systematic review; Meta-analysis; Gait analysis;
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
Keywords: آتاکسی مخچه; 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;
Test-retest reliability of an instrumented electronic walkway system (GAITRite) for the measurement of spatio-temporal gait parameters in young patients with Friedreich's ataxia
Keywords: آتاکسی مخچه; Cerebellar ataxia; Gait analysis; Spatio-temporal parameters; GAITRite; Gait Variability Index;
A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia
Keywords: آتاکسی مخچه; Calcium signaling; Plasma membrane calcium ATPases; Cerebellar ataxia; Pump mutation;
The KASH-containing isoform of Nesprin1 giant associates with ciliary rootlets of ependymal cells
Keywords: آتاکسی مخچه; SYNE1; Nesprin1; Ciliary rootlets; Cerebellar ataxia; ARCA1; SCAR8; Ependymal cells; Brain ventricles; KASH; ARCA1; Autosomal recessive cerebellar ataxia; CGN; Cerebellar granule neurons; GCL; Granule cell layer; KASH; Klarsicht/Anc1/Syne homology; KLNes1
Clinical ObservationsEarly Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family
Keywords: آتاکسی مخچه; CAPOS syndrome; ATP1A3 gene; cerebellar ataxia; sensorineural hearing loss; optic atrophy;
SCA13 causes dominantly inherited non-progressive myoclonus ataxia
Keywords: آتاکسی مخچه; Cerebellar ataxia; Myoclonus; Neurogenetics; Movement disorder;
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing
Keywords: آتاکسی مخچه; d-Bifunctional protein deficiency; HSD17B4; Whole-exome sequencing; Hearing impairment; Peripheral neuropathy; Cerebellar ataxia;
The c-Abl inhibitor, nilotinib, as a potential therapeutic agent for chronic cerebellar ataxia
Keywords: آتاکسی مخچه; 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;
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
Keywords: آتاکسی مخچه; Peroxisome biogenesis disorder; Peroxisome biogenesis factor 10 (PEX10); Compound heterozygote; Point mutation; Cerebellar ataxia; Zellweger syndrome; AFP; alpha fetoprotein; BWA; Burrows Wheeler Aligner; DHA; docosahexaenoic acid; dma; dimethyl acetal; F
Comparison of imaging using 11C-ITMM and 18F-FDG for the detection of cerebellar ataxia
Keywords: آتاکسی مخچه; Type 1 metabotropic glutamate receptor; Cerebellar ataxia; PET; 11C-ITMM; 18F-FDG;
Reversal of aberrant PI3K/Akt signaling by Salubrinal in a GalT-deficient mouse model
Keywords: آتاکسی مخچه; Classic Galactosemia; PI3K/Akt signaling; Endoplasmic reticulum (ER) stress; Salubrinal; Primary ovarian insufficiency (POI); Cerebellar ataxia;
Sez6l2 regulates phosphorylation of ADD and neuritogenesis
Keywords: آتاکسی مخچه; Sez6l2; Anti-neuronal antibody; Cerebellar ataxia; Neuronal surface antibodies; Adducin; Glutamate receptor 1;
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene
Keywords: آتاکسی مخچه; CAPOS syndrome; ATP1A3 gene; cerebellar ataxia; areflexia; pes cavus; optic atrophy; sensorineural hearing loss;
Topical ReviewAcute Ataxia in Children: A Review of the Differential Diagnosis and Evaluation in the Emergency Department
Keywords: آتاکسی مخچه; acute ataxia; cerebellar ataxia; toxic ingestion; Guillain-Barré syndrome; differential diagnosis; children; magnetic resonance; lumbar puncture;
Psychotic syndrome associated with anti-Ca/ARHGAP26 and voltage-gated potassium channel antibodies
Keywords: آتاکسی مخچه; Anti-Ca; Anti-ARHGAP26; Rho GTPase-activating protein 26; GTPase regulator associated with focal adhesion kinase; GRAF1; Oligophrenin 1-like protein; Voltage-gated potassium channels; Anti-nuclear antibodies; Kv1.1; Kv1.2; Kv1.7; LGI1; CASPR2; Limbic ence
Ataxia-telangiectasia — A historical review and a proposal for a new designation: ATM syndrome
Keywords: آتاکسی مخچه; Ataxia-telangiectasia; Cerebellar ataxia; Immunodeficiency; Malignancies; Oculocutaneous telangiectasia; Alpha-fetoprotein
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)
Keywords: آتاکسی مخچه; 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
A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy
Keywords: آتاکسی مخچه; Cerebellar ataxia; Metachromatic leukodystrophy; Arylsulfatase A; Magnetic resonance imaging; Lysosomal storage disease; Neurometabolic disease;
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) – A case report and review of literature
Keywords: آتاکسی مخچه; Cerebellar ataxia with neuropathy and vestibular areflexia syndrome; Cerebellar ataxia; Sensory neuropathy; Vestibulopathy; Visually enhanced vestibulo-ocular reflex
Review articleHemicerebellitis: Report of three paediatric cases and review of the literature
Keywords: آتاکسی مخچه; Hemicerebellitis; Cerebellitis; Posterior fossa tumour; Cerebellar ataxia;
Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration
Keywords: آتاکسی مخچه; Cerebellar ataxia; Neurodegeneration; Functional genomics; Next generation sequencing; Genome-wide expression profiling; Modifier gene;
Nesprins in health and disease
Keywords: آتاکسی مخچه; Ageing; Cancer; Cerebellar ataxia; LINC complex; Nesprin; SUN-domain proteins;
Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement
Keywords: آتاکسی مخچه; Cerebellar ataxia; Adult-onset Alexander disease; GFAP gene; Cervicomedullary atrophy; MRI; Neurodegenerative disorder;
Neuropathology of leukoencephalopathy with brainstem and spinal cord involvement and high lactate caused by a homozygous mutation of DARS2
Keywords: آتاکسی مخچه; LBSL; DARS2; MRS; Cerebellar ataxia; Spongy encephalopathy; Axonal degeneration