636 results on '"Tournier‐Lasserve, Elisabeth"'
Search Results
2. Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
3. Lysyl hydroxylase 3–mediated post-translational modifications are required for proper biosynthesis of collagen α1α1α2(IV)
4. COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
5. Impaired retinoic acid signaling in cerebral cavernous malformations
6. Phenotype and imaging features associated with APP duplications
7. Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
8. Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice
9. Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial
10. An AluYa5 Insertion in the 3′UTR of COL4A1 and Cerebral Small Vessel Disease
11. Moyamoya disease: diagnosis and interventions
12. Monogenic Stroke Diseases
13. Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors
14. PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis
15. Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel
16. Blocking Signalopathic Events to Treat Cerebral Cavernous Malformations
17. Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice
18. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
19. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
20. Early-Onset Cerebral Amyloid Angiopathy and Alzheimer Disease Related to an APP Locus Triplication
21. Recalibrating vascular malformations and mechanotransduction by pharmacological intervention
22. Further refinement of COL4A1 and COL4A2 related cortical malformations
23. Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
24. Estudios genéticos en pacientes y familias con sospecha de enfermedades neurovasculares hereditarias
25. Pathogenic SCN2A variants are associated with familial and sporadic hemiplegic migraine
26. List of Contributors
27. Molecular Genetic Screening of CCM Patients: An Overview
28. Cerebral Cavernous Malformations, Molecular Biology, and Genetics
29. Nontraumatic Pediatric Intracerebral Hemorrhage
30. BiallelicNPR1loss of function variants are responsible for neonatal systemic hypertension
31. Extension of the Clinicoradiologic Spectrum of Newly Described End-TruncatingLAMB1Variations
32. Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage
33. Biallelic NPR1 loss of function variants are responsible for neonatal systemic hypertension.
34. Novel Chronic Mouse Model of Cerebral Cavernous Malformations
35. Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy
36. European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy Endorsed by Vascular European Reference Network (VASCERN)
37. Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM): a randomised, open-label, blinded-endpoint, phase 2 pilot trial
38. sj-docx-2-eso-10.1177_23969873221144089 – Supplemental material for European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)
39. sj-docx-3-eso-10.1177_23969873221144089 – Supplemental material for European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)
40. Additional file 1 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
41. sj-docx-4-eso-10.1177_23969873221144089 – Supplemental material for European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)
42. Additional file 5 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
43. sj-docx-1-eso-10.1177_23969873221144089 – Supplemental material for European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)
44. sj-docx-5-eso-10.1177_23969873221144089 – Supplemental material for European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)
45. sj-docx-6-eso-10.1177_23969873221144089 – Supplemental material for European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy: Endorsed by Vascular European Reference Network (VASCERN)
46. Additional file 2 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
47. Additional file 3 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
48. Additional file 4 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
49. Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors
50. Fatal Aβ cerebral amyloid angiopathy 4 decades after a dural graft at the age of 2 years
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