294 results on '"Edvardson, Simon"'
Search Results
2. A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment
3. Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation
4. Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families
5. Nociception and pain in humans lacking a functional TRPV1 channel
6. Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy
7. Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
8. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
9. A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency
10. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
11. WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy.
12. Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure
13. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
14. Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
15. A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness
16. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay
17. PARP10 deficiency manifests by severe developmental delay and DNA repair defect
18. Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
19. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
20. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
21. A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
22. Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene
23. Loss-of-function mutation in humanOxidation Resistance gene 1disrupts the spatial-temporal regulation of histone arginine methylation in early brain development
24. Contributors
25. Complex II Deficiency
26. Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy
27. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function
28. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)
29. Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy
30. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene
31. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
32. A human laterality disorder caused by a homozygous deleterious mutation in MMP21
33. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
34. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex
35. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation
36. Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation
37. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
38. C6ORF66 is an assembly factor of mitochondrial complex I
39. Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
40. West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation
41. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
42. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
43. Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
44. West syndrome caused by ST3Gal-III deficiency
45. Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
46. Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene
47. Hereditary Sensory Autonomic Neuropathy Caused by a Mutation in Dystonin
48. A deleterious variant of INTS1 leads to disrupted sleep–wake cycles
49. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
50. Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
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