Lista de obras - Guy Helman - Dominio Público Uruguay

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

artículo científico publicado en 2014

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

artículo científico publicado en 2020

Anti–N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis

Case definition and classification of leukodystrophies and leukoencephalopathies

artículo científico publicado en 2015

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

artículo científico publicado en 2020

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

artículo científico publicado en 2015

Consensus statement on preventive and symptomatic care of leukodystrophy patients

artículo científico

Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

artículo científico publicado en 2016

Disease specific therapies in leukodystrophies and leukoencephalopathies

artículo científico publicado en 2015

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

artículo científico publicado en 2014

Emerging treatments for pediatric leukodystrophies

artículo científico

Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

scholarly article by Guy Helman et al published 2014 in Journal of Inherited Metabolic Disorders Reports

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

artículo científico publicado en 2020

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease

artículo científico publicado en 2013

Genome sequencing in persistently unsolved white matter disorders

artículo científico publicado en 2020

Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency

artículo científico publicado en 2014

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

artículo científico publicado en 2019

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

artículo científico publicado en 2015

MR Imaging Findings in Xp21.2 Duplication Syndrome.

artículo científico publicado en 2016

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

artículo científico publicado en 2015

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

scientific article published on 10 November 2020

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

artículo científico publicado en 2017

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects

artículo científico publicado en 2016

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

artículo científico publicado en 2015

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

artículo científico publicado en 2016

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

scientific article published on 28 April 2020

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency

artículo científico publicado en 2015

SCN8A encephalopathy: Research progress and prospects

artículo científico publicado en 2016

TUBB4A de novo mutations cause isolated hypomyelination

artículo científico publicado en 2014

The urea cycle disorders

artículo científico publicado en 2014

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

scientific article published on 03 March 2020

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

artículo científico publicado en 2016

Whole exome sequencing in patients with white matter abnormalities.

artículo científico publicado en 2016

Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

artículo científico publicado en 2014

Lista de obras de Guy Helman

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Anti–N-Methyl-d-Aspartate (NMDA) Receptor Encephalitis

Case definition and classification of leukodystrophies and leukoencephalopathies

Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Consensus statement on preventive and symptomatic care of leukodystrophy patients

Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].

Disease specific therapies in leukodystrophies and leukoencephalopathies

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

Emerging treatments for pediatric leukodystrophies

Erratum to: Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease

Genome sequencing in persistently unsolved white matter disorders

Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

MR Imaging Findings in Xp21.2 Duplication Syndrome.

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

Multi-omic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Neurologist Comfort in the Use of Next-Generation Sequencing Diagnostics: Current State and Future Prospects

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders

Reduced Functional Connectivity of Default Mode and Set-Maintenance Networks in Ornithine Transcarbamylase Deficiency

SCN8A encephalopathy: Research progress and prospects

TUBB4A de novo mutations cause isolated hypomyelination

The urea cycle disorders

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Whole exome sequencing in patients with white matter abnormalities.

Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin Synthesis