172 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. Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
35. A deleterious variant of INTS1 leads to disrupted sleep–wake cycles
36. Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
37. Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
38. Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
39. A homozygous deleteriousCDK10mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness
40. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
41. Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
42. tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy
43. Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy
44. Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
45. Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
46. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
47. Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation
48. Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria
49. Mutation-specific effects on thin filament length in thin filament myopathy
50. Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy
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