Keywords: لکوودیستروفی; Leukodystrophy; Ribosomopathy; Developmental disorders; Genetics;
مقالات ISI لکوودیستروفی (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: لکوودیستروفی; Acquired deafness; Sensorineural hearing loss; Congenital cytomegalovirus (CMV); Leukodystrophy;
Keywords: لکوودیستروفی; Multiple sulfatase deficiency; Leukodystrophy; Mucopolysaccharidoses; Consensus; Therapy; Care; Outcomes; Prevention; ACC; augmentative and alternative communication; AEP; auditory evoked potential; BiPAP; bilevel positive airway pressure; CPAP; continuou
Keywords: لکوودیستروفی; cerebrovascular disease; developmental disorders; genetics; movement disorders; leukodystrophy;
Keywords: لکوودیستروفی; Leukodystrophy; Vanishing white matter disease; EIF mutation; Cranial nerve enhancement; Immunotherapy;
Keywords: لکوودیستروفی; Neurodegenerative disorder; Leukodystrophy; Alexander disease; Magnetic resonance; GFAP gene; Enfermedad neurodegenerativa; Leucodristrofia; Enfermedad de Alexander; Resonancia magnética; Gen GFAP;
Keywords: لکوودیستروفی; Myelin vacuolation; Demyelination; Leukodystrophy; Multiple sclerosis; Toxin; Deficiency;
Keywords: لکوودیستروفی; gLE; genetic leukoencephalopathy; CNS; central nervous system; MRI; magnetic resonance imaging; MSUD; Maple Syrup Urine Disease; ClC-2; Chloride Ion Channel 2; MLC; Megalencephalic Leukoencephalopathy with subcortical cysts; X-ALD; X-linked Adrenoleukodys
Keywords: لکوودیستروفی; X-ALD; X-linked adrenoleukodystrophy; ADLD; Adult onset autosomal dominant leukodystrophy; AGS; Aicardi-Goutières syndrome; AxD; Alexander disease; CER; Comparative effectiveness research; CT; Computed tomography; CTX; Cerebrotendinous xanthomatosis; G
Keywords: لکوودیستروفی; leukodystrophy; metachromatic; hematopoietic stem cell transplantation; gene therapy; enzyme replacement therapy; magnetic resonance imaging;
Keywords: لکوودیستروفی; LD; Leukodystrophies; gLE; Genetic leukoencephalopathy; MR; Magnetic resonance; MRI; Magnetic resonance imaging; GLIA; Global Leukodystrophy Initiative; CNS; Central nervous system; SIMD; Society for Inherited Metabolic Disorders; VWM; Vanishing white mat
Keywords: لکوودیستروفی; Rare disease; Leukodystrophy; Health database; Ethics committee; Ethical management
Keywords: لکوودیستروفی; Medicina personalizada; Exoma; Leucodistrofia; Paraparesia espástica; Retraso mental no sindrómicoPersonalized medicine; Exome; Leukodystrophy; Spastic paraparesis; Non syndromic mental retardation
Keywords: لکوودیستروفی; Krabbe's disease; Twitcher; Leukodystrophy; Myelin; Axonal transport; Endocytosis;
Keywords: لکوودیستروفی; Diffuse; Leukodystrophy; Leukoencephalopathy; MRI; T2; White matter;
Keywords: لکوودیستروفی; Leukodystrophy; Inborn error of metabolism; Dysmyelination; Demyelination; Spectroscopy; White matter;
Keywords: لکوودیستروفی; Leukodystrophy; Mitochondrial disease; Crohn disease; Hirschsprung disease; Myopathy; Ganglion cell; Intestinal pseudo-obstruction;
Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis
Keywords: لکوودیستروفی; Alexander disease; Leukodystrophy; GFAP; Spinal manifestation;
A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma
Keywords: لکوودیستروفی; Zellweger syndrome; Ocular medulloepithelioma; Optic neuropathy; Leukodystrophy;
Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency
Keywords: لکوودیستروفی; Phosphoglycerate kinase deficiency; Hemolytic crisis; Rhabdomyolysis; Intellectual disability; Leukodystrophy; Dystonia; Ketogenic diet;
Expanding the spectrum of PEX16 mutations and novel insights into disease mechanisms
Keywords: لکوودیستروفی; Whole genome sequencing; PEX16; Peroxisomes; Leukodystrophy; Dystonia;
Ataxia With Hypodontia: A Unique Leukodystrophy
Keywords: لکوودیستروفی; Hypodontia; Ataxia; Leukodystrophy; Hypomyelination; 4H syndrome;
GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy
Keywords: لکوودیستروفی; Leukodystrophy; MLC1; GlialCAM; LRRC8; Astrocytes; Signal transduction; Volume-regulated anion channel; ERK; cDNA; copy DNA or complementary DNA; EmGFP; emerald green fluorescent protein; HA; haemagglutinin; KO; knockout; MLC; megalencephalic leukoencepha
Mice overexpressing lamin B1 in oligodendrocytes recapitulate the age-dependent motor signs, but not the early autonomic cardiovascular dysfunction of autosomal-dominant leukodystrophy (ADLD)
Keywords: لکوودیستروفی; ADLD; adult-onset autosomal dominant leukodystrophy; BRS; index of cardiac baroreflex sensitivity; EEG; electroencephalogram; EMG; electromyogram; HP; heart period; LMNB1; lamin B1 gene; N; non-rapid-eye-movement sleep; PBS; phosphate buffered saline; Plp
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients
Keywords: لکوودیستروفی; Aicardi-Goutières syndrome; leukodystrophy; calcification; TREX-1;
Leukodystrophy with disorders of sex development due to WT1 mutations
Keywords: لکوودیستروفی; Hypomyelination; Leukodystrophy; Neurodegeneration; Denys-Drash syndrome; Sex development;
Developmental defects and aberrant accumulation of endogenous psychosine in oligodendrocytes in a murine model of Krabbe disease
Keywords: لکوودیستروفی; Krabbe disease; Oligodendrocyte; Demyelination; Leukodystrophy; Sphingolipidoses; Lysosomal storage disease;
Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective
Keywords: لکوودیستروفی; Leukodystrophy; MLC1; GlialCAM; ClC-2; Astrocyte;
Asociación entre la mutación homocigota c.318A>T en el exón 2 del gen EIF2B5 y la forma infantil de la leucoencefalopatÃa con sustancia blanca evanescente
Keywords: لکوودیستروفی; LeucoencefalopatÃa con sustancia blanca evanescente; Gen EIF2B5; Resonancia magnética; Leucodistrofia; Vanishing white matter disease; EIF2B5 gene; Magnetic resonance; Leukodystrophy;
Original articleLong-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study
Keywords: لکوودیستروفی; X-linked adrenoleukodystrophy; Addison's disease; Very long chain fatty acids; Leukodystrophy; AI; adrenal insufficiency; ACTH; adrenocorticotropin; CCALD; childhood cerebral X-ALD; FSIQ; full scale intelligence quotient (IQ) score; HSCT; hematopoietic st
In vivo characterization of the aspartyl-tRNA synthetase DARS: Homing in on the leukodystrophy HBSL
Keywords: لکوودیستروفی; DARS; HBSL; Leukodystrophy; Aminoacyl-tRNA synthetase; Aspartyl-tRNA synthetase; Mouse model;
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation
Keywords: لکوودیستروفی; TUFM; Mitochondrial translation; Leukodystrophy; OXPHOS defects;
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome
Keywords: لکوودیستروفی; Aicardi-Goutières syndrome; RNASET2; Leukodystrophy; Calcification; Interferonopathy;
Original articleTUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients
Keywords: لکوودیستروفی; TUBB4A; Hypomyelination; Leukodystrophy; H-ABC; Cerebellar; Atrophy;
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings
Keywords: لکوودیستروفی; Leukodystrophy; Mitochondrial disease; LTBL; Child; Nuclear gene;
Auditory neuropathy spectrum disorder in hypomyelinating leukodystrophy-A case study
Keywords: لکوودیستروفی; Leukodystrophy; Hypomyelination; Auditory neuropathy spectrum disorder; Otoacoustic emissions; Brainstem auditory evoked responses; Cochlear microphonics;
Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions
Keywords: لکوودیستروفی; T-cells; Leukodystrophy; Oligodendrocyte; Gap junctions; B-cells; Multiple sclerosis;
Adult Polyglucosan Body Disease: Clinical and histological heterogeneity of a large Italian family
Keywords: لکوودیستروفی; Adult Polyglucosan Body Disease; Leukodystrophy; 1,4-Alpha-glucan branching enzyme; GBE1
Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings
Keywords: لکوودیستروفی; NBIA; 4H syndrome; Demyelinating disease; Leukodystrophy; WDR45; POLR3A; Whole exome sequencing
From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1
Keywords: لکوودیستروفی; AIFM1; X-chromosomal mitochondriopathy; Leukodystrophy; External ophthalmoplegia; Muscle wasting
Disease specific therapies in leukodystrophies and leukoencephalopathies
Keywords: لکوودیستروفی; X-ALD; X-linked Adrenoleukodystrophy; AGS; Aicardi-Goutières Syndrome; CSF; cerebrospinal fluid; IFNα; α-interferon; RNA; ribonucleic acid; DNA; deoxyribonucleic acid; SLE; systemic lupus erythematosus; AxD; Alexander disease; GFAP; growth factor ass
Phenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP)
Keywords: لکوودیستروفی; ALSP; adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; CSF-1R; colony stimulating factor-1 receptor; FA; fractional anisotropy; GFAP; glial fibrillary acidic protein; G-CSF; granulocyte-CSF; GM-CSF; granulocyte macrophage-CSF; HDL
Emerging Treatments for Pediatric Leukodystrophies
Keywords: لکوودیستروفی; Leukodystrophy; Genomics; Therapy; Symptomatic; Disease modifying; Stem cell; Gene therapy;
Pelizaeus-Merzbacher Disease, Easily Misdiagnosed as Cerebral Palsy: A Report of a Three-generation Family
Keywords: لکوودیستروفی; demyelination; leukodystrophy; Pelizaeus-Merzbacher disease; proteolipid protein
Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy
Keywords: لکوودیستروفی; leukodystrophy; TUBB4A; whole-exome sequencing; hypomyelination;
GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease
Keywords: لکوودیستروفی; Leukodystrophy; Glia; Myelin; GJC2; Pelizaeus–Merzbacher
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination
Keywords: لکوودیستروفی; Hypomyelination; Leukodystrophy; Hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome; POLR3A; Whole-exome sequencing; RNA polymerase III (Pol III)
Pathophysiology of X-linked adrenoleukodystrophy
Keywords: لکوودیستروفی; ABC transporter; Axonopathy; Demyelination; Inflammation; Leukodystrophy; Peroxisome; ABCD; ATP-binding cassette transporter subfamily D; AMN; adrenomyeloneuropathy; CALD; cerebral adrenoleukodystrophy; HSCT; hematopoietic stem cell transplantation; VLCFA
Metabolic White Matter Diseases and the Utility of MR Spectroscopy
Keywords: لکوودیستروفی; Brain tumor; Demyelination; Inborn errors of metabolism; Leukodystrophy; Mitochondrial disorders; MR Spectroscopy (MRS); Radiation therapy; Voxel;
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: Relevance to MLC disease pathogenesis
Keywords: لکوودیستروفی; Leukodystrophy; Early/recycling endosomes; TRPV4; V-ATPase; Na; K-ATPase; Hyposmosis; Calcium; Rab11;