about
2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylaseA deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonismC6ORF66 is an assembly factor of mitochondrial complex IJoubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationA human laterality disorder caused by a homozygous deleterious mutation in MMP21Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding siteDeleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathyInfantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex.Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaA defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.Functional consequences and structural interpretation of mutations of human choline acetyltransferase.Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.West syndrome caused by ST3Gal-III deficiency.KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutationA common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyTwo novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalusCombined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7Truncating Mutation in the Nitric Oxide Synthase 1 Gene Is Associated With Infantile AchalasiaThe unique neuroradiology of complex I deficiency due to NDUFA12L defect[Referral letters to the pediatric emergency department]Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 geneJoubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a Mutation
P50
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P50
description
researcher
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wetenschapper
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հետազոտող
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name
Simon Edvardson
@en
Simon Edvardson
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Simon Edvardson
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Simon Edvardson
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type
label
Simon Edvardson
@en
Simon Edvardson
@es
Simon Edvardson
@nl
Simon Edvardson
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prefLabel
Simon Edvardson
@en
Simon Edvardson
@es
Simon Edvardson
@nl
Simon Edvardson
@sl
P106
P21
P31
P496
0000-0003-2878-1278