Magnetic resonance imaging pattern recognition in hypomyelinating disorders - Test2 - elhamkhani - TriplyDB

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

http://www.wikidata.org/entity/Q36661277

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Hypomyelinating leukodystrophies: translational research progress and prospects Mutations in RARS cause hypomyelination Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein Whole brain myelin mapping using T1- and T2-weighted MR imaging data.Mapping pathological changes in brain structure by combining T1- and T2-weighted MR imaging data.Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature Neurometabolic diseases of childhood.Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia.Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis TUBB4A de novo mutations cause isolated hypomyelination.Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI.GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.Altered PLP1 splicing causes hypomyelination of early myelinating structures.Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.Familial recurrence of cerebral palsy with multiple risk factors Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form Diffuse hypomyelination is not obligate for POLR3-related disorders.Consensus paper: radiological biomarkers of cerebellar diseases The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India More than hypomyelination in Pol-III disorder.The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement Neuroradiologic correlates of clinical disability and progression in the X-linked leukodystrophy Pelizaeus-Merzbacher disease Glial progenitor cell-based treatment of the childhood leukodystrophies.Whole exome sequencing in patients with white matter abnormalities.Childhood leukodystrophies: a clinical perspective.Advances in the diagnosis of leukoencephalopathies.Emerging treatments for pediatric leukodystrophies.Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

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P2860

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

http://www.wikidata.org/entity/Q36661277

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2010年论文

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2010年论文

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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Magnetic resonance imaging pattern recognition in hypomyelinating disorders

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Grazia M S Mancini

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Marjan E Steenweg

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Marjo S van der Knaap

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Susan Blaser

http://www.w3.org/2001/XMLSchema#string

Tom J de Koning

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Wessel N van Wieringen

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P2860

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

Neurological manifestations of the oculodentodigital dysplasia syndrome

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter

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10.1093/BRAIN/AWQ257

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10

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133

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Frederik Barkhof

Adeline Vanderver

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2010-10-01T00:00:00Z

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46820437

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20881161

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