List of works - Guy Helman

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

scientific article

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

scientific article published on 08 September 2020

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

Case definition and classification of leukodystrophies and leukoencephalopathies

scientific article

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

scientific article published on 28 September 2020

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

scientific article

Consensus statement on preventive and symptomatic care of leukodystrophy patients

scientific article published on 27 December 2014

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

scientific article published in November 2016

Disease specific therapies in leukodystrophies and leukoencephalopathies

scientific article

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

scientific article

Emerging treatments for pediatric leukodystrophies

scientific article published on 08 April 2015

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

scientific article published on 23 June 2020

GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease

scientific article

Genome sequencing in persistently unsolved white matter disorders

scientific article published on 07 January 2020

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

scientific article published on 20 May 2014

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

scientific article published on 11 January 2019

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

scientific article

MR Imaging Findings in Xp21.2 Duplication Syndrome.

scientific article published on 31 May 2016

Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy

scientific article

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.

scientific article published on 20 July 2017

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

scientific article

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

scientific article published on 18 November 2015

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

scientific article published on 13 September 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

scientific article published on 11 June 2015

SCN8A encephalopathy: Research progress and prospects

scientific article

TUBB4A de novo mutations cause isolated hypomyelination

scientific article

The urea cycle disorders

scientific article published in July 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

scientific article

Whole exome sequencing in patients with white matter abnormalities.

scientific article published on 09 May 2016

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

scientific article

List of works by 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