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Lista de obras de Simon Edvardson

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2013

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

artículo científico publicado en 2016

C6ORF66 is an assembly factor of mitochondrial complex I

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado el 28 de junio de 2013

[Referral letters to the pediatric emergency department]

artículo científico publicado en 2008