about
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.SCN8A encephalopathy: Research progress and prospectsTUBB4A de novo mutations cause isolated hypomyelination.GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin SynthesisLoss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectCase definition and classification of leukodystrophies and leukoencephalopathies.Disease specific therapies in leukodystrophies and leukoencephalopathies.A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesReduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency.Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiencyNeuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeMR Imaging Findings in Xp21.2 Duplication Syndrome.Whole exome sequencing in patients with white matter abnormalities.Consensus statement on preventive and symptomatic care of leukodystrophy patients.Emerging treatments for pediatric leukodystrophies.Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects.Update on Leukodystrophies: A Historical Perspective and Adapted Definition.RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].The urea cycle disorders.Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.Anti–N-Methyl-d-Aspartate (NMDA) Receptor EncephalitisLeukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndromeErratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin SynthesisType II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoformGenome sequencing in persistently unsolved white matter disordersRandomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
P50
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P50
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researcher
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wetenschapper
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հետազոտող
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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Guy Helman
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P1153
56045821000
P21
P31
P496
0000-0002-4784-7423