Keywords: آتروفی مغزی; ataxia; dilated cardiomyopathy; DNAJC19 gene; cerebellar atrophy; 3-methylglutaconic acid
مقالات ISI ترجمه شده آتروفی مغزی
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Keywords: آتروفی مغزی; Cortical thickness; Multiple system atrophy; Cerebellar atrophy; Speech;
Keywords: آتروفی مغزی; late-infantile neuronal ceroid lipofuscinoses; chorea; neuroregression; cerebellar atrophy
Keywords: آتروفی مغزی; Episodic ataxia; SCN2A; Acetazolamide; Cerebellar atrophy; Treatment; Channelopathy
Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin
Keywords: آتروفی مغزی; Cerebellar atrophy; Auditory neuropathy; Axonal neuropathy; Myoclonus; Riboflavin; WES; whole exome sequencing; OXPHOS; oxidative phosphorylation;
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing
Keywords: آتروفی مغزی; Congenital disorder of glycosylation; COG8; CDG-IIh; Cerebellar atrophy;
Relevance of non-specific MRI features in multiple system atrophy
Keywords: آتروفی مغزی; Muliple system atrophy; MRI features of MSA; 'Hot-cross bun' sign; Hyperintense putamen rim; Corpus callosal atrophy; Cerebellar atrophy; Midbrain atrophy; 'Morning glory' sign;
Brain volumetric analysis and cortical thickness in adults with saccadic intrusions (ocular flutter or opsoclonus-myoclonus syndrome)
Keywords: آتروفی مغزی; Opsoclonus myoclonus syndrome; Ocular flutter; Cortical thickness; Cerebellar atrophy;
Original articleMissense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
Keywords: آتروفی مغزی; Congenital ataxia; Cerebellar atrophy; Calcium channel; Voltage-dependent; P/Q type; Alpha-1a subunit (CACNA1A); Targeted resequencing;
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome
Keywords: آتروفی مغزی; 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
JC virus granule cell neuronopathy: A cause of infectious cerebellar degeneration
Keywords: آتروفی مغزی; JC virus; Progressive multifocal leukoencephalopathy; Cerebellar atrophy; Immunosuppression; HIV; Granule cell neuronopathy;
Dysarthrie et troubles de l'équilibre chez un homme de 54Â ans
Keywords: آتروفی مغزی; Atrophie cérébelleuse; Syndrome de l'X fragile (FXTAS); Atrophie multisystématisée; SLA; Cerebellar atrophy; X-fragile syndrome (FXTAS); Multiple system atrophy;
Cerebellar atrophy in a child with hereditary methemoglobinemia type II
Keywords: آتروفی مغزی; Hereditary methemoglobinemia; Movement disorders; Cerebellar atrophy
Galloway-Mowat syndrome: Prenatal ultrasound and perinatal magnetic resonance imaging findings
Keywords: آتروفی مغزی; Cerebellar atrophy; Galloway-Mowat syndrome; Magnetic resonance imaging; Prenatal diagnosis; Ultrasound
A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis
Keywords: آتروفی مغزی; Gerstmann-Sträussler-Scheinker syndrome; Prion protein gene; Codon 105; Extrapyramidal sign; Ataxia; Cerebellar atrophy
DOOR syndrome concomitant with non-convulsive status epilepticus and hyperintense cerebellar cortex on T2-weighted imaging
Keywords: آتروفی مغزی; DOOR syndrome; Non-convulsive status epilepticus; Cerebellar atrophy
Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients
Keywords: آتروفی مغزی; Ataxia with oculo-motor apraxia type 2; Senataxin gene; Clinical phenotype; Cerebellar atrophy; Axonal polyneuropathy; Alpha-fetoprotein
Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum
Keywords: آتروفی مغزی; Hypomyelination; Cerebellar atrophy; Atrophy of the corpus callosum; Slow progressive; MRI
Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood
Keywords: آتروفی مغزی; PET; FDG; Hypometabolism; Cerebellar atrophy; AHC
Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
Keywords: آتروفی مغزی; Congenital disorders of glycosylation; CDG-Ia; Cerebellar atrophy; Olivopontocerebellar atrophy; Hydrops foetalis; CoagulopathyATIII, antithrombin III; aPPT, activated partial thromboplastin time; CDG, congenital disorders of glycosylation; GDP-mannose, g
Research ReportPitch discrimination in cerebellar patients: Evidence for a sensory deficit
Keywords: آتروفی مغزی; Discrimination; Impairment; Cerebellar atrophy; Sensory; Hearing;
Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sjögren syndrome
Keywords: آتروفی مغزی; Marinesco-Sjögren syndrome; SIL1 gene; Mutation; Autosomal recessive disease; Cerebellar atrophy; Mental retardation; Cataract; Loss-of-function;
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration—A late onset variant of PCH-1?
Keywords: آتروفی مغزی; Pontocerebellar hypoplasia; Cerebellar atrophy; Mental retardation; Anterior horn cell degeneration; Spinal muscular atrophy
Subcortical and cerebellar atrophy in mesial temporal lobe epilepsy revealed by automatic segmentation
Keywords: آتروفی مغزی; Volumetric MRI; Mesial temporal lobe epilepsy; Subcortical atrophy; Cerebellar atrophy
Infantile neuroaxonal dystrophy: What's most important for the diagnosis?
Keywords: آتروفی مغزی; Infantile neuroaxonal dystrophy; PLA2G6 gene; Cerebellar atrophy; EEG fast rhythms
Differential diagnosis of cerebellar atrophy in childhood
Keywords: آتروفی مغزی; Cerebellar atrophy; Cerebellar hypoplasia; Children; Neuroimaging; Pattern-recognition
A Japanese family with early-onset ataxia with motor and sensory neuropathy
Keywords: آتروفی مغزی; Cerebellar atrophy; Peripheral neuropathy; Autosomal recessive inheritance; Hyperglutamatemia
Abnormal cerebellar cytoarchitecture and impaired inhibitory signaling in adult mice lacking TR4 orphan nuclear receptor
Keywords: آتروفی مغزی; Testicular orphan nuclear receptor 4; Cerebellar atrophy; Locomotor
Cerebellar atrophy in temporal lobe epilepsy
Keywords: آتروفی مغزی; Cerebellar atrophy; Temporal lobe epilepsy; Quantitative magnetic resonance imaging;