Шимон Эдвардсон

Научные публикации

• Nociception and pain in humans lacking functional TRPV1 channel
• A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System
• Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
• Macrophage migration inhibitory factor in Nodding syndrome
• Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
• Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families
• A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy
• Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove
• Dual-Targeted Autoimmune Sword in Fatal Epilepsy: Patient's glutamate receptor AMPA GluR3B peptide autoimmune antibodies bind, induce Reactive Oxygen Species (ROS) in, and kill both human neural cells and T cells
• Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
• Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
• Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy
• Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy
• Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
• Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
• A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency
• Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
• EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS
• Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
• A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness
• De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
• Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
• Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
• Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
• tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy
• Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
• Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway
• Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
• Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
• PARP10 deficiency manifests by severe developmental delay and DNA repair defect
• Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
• Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation
• A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay
• Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
• Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy
• Mutation-specific effects on thin filament length in thin filament myopathy
• Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
• Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function
• Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
• Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
• Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
• Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene
• TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
• Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
• A human laterality disorder caused by a homozygous deleterious mutation in MMP21
• Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients
• Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)
• Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
• A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
• Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia