217 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. Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
7. Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
8. Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
9. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization
10. A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency
11. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
12. WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy.
13. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
14. Truncating Mutation in the Nitric Oxide Synthase 1 Gene Is Associated With Infantile Achalasia
15. Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
16. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder
17. A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness
18. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay
19. PARP10 deficiency manifests by severe developmental delay and DNA repair defect
20. Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
21. Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
22. A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
23. Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene
24. Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy
25. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function
26. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)
27. Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy
28. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene
29. l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
30. A human laterality disorder caused by a homozygous deleterious mutation in MMP21
31. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
32. The unique neuroradiology of complex I deficiency due to NDUFA12L defect
33. C6ORF66 Is an Assembly Factor of Mitochondrial Complex I
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. Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
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. Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
49. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
50. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
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