List of works - Simon Edvardson

2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

scientific article

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

scientific article published on 23 October 2010

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

scientific article published on 17 April 2015

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

scientific article

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

scientific article

A human laterality disorder caused by a homozygous deleterious mutation in MMP21

scientific journal article

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

scientific article published on 7 February 2013

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

scientific article

C6ORF66 is an assembly factor of mitochondrial complex I

scientific article

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

scientific article published on 24 May 2011

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

scientific article published on 20 January 2016

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

scientific article

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

scientific article

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

scientific article published on 8 April 2014

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

scientific article

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect

scientific article published on 11 February 2017

Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

scientific article published on 23 September 2011

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

scientific article published in April 2012

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site

scientific article

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene

scientific article published on 22 October 2014

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex

scientific article

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

scientific article published on 12 June 2012

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a Mutation

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation

scientific article

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

scientific article published on 6 December 2013

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

scientific article

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

scientific article

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

scientific article

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

scientific article published on 30 August 2016

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

scientific article published on 3 June 2015

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

scientific article published on 12 September 2013

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

scientific article

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)

scientific article

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

scientific article published on 03 January 2008

Truncating Mutation in the Nitric Oxide Synthase 1 Gene Is Associated With Infantile Achalasia

article

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

West syndrome caused by ST3Gal-III deficiency.

scientific article published on 17 December 2012

West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation ⬇️

scientific article published on June 28, 2013

[Referral letters to the pediatric emergency department]

scientific article published on 01 July 2008

List of works by Simon Edvardson

2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

A human laterality disorder caused by a homozygous deleterious mutation in MMP21

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

C6ORF66 is an assembly factor of mitochondrial complex I

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency

Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect

Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a Mutation

Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

Truncating Mutation in the Nitric Oxide Synthase 1 Gene Is Associated With Infantile Achalasia

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

West syndrome caused by ST3Gal-III deficiency.

West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation ⬇️

[Referral letters to the pediatric emergency department]