295 results on '"Riant, Florence"'
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2. Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
3. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
4. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
5. The dural angioleiomyoma harbors frequent GJA4 mutation and a distinct DNA methylation profile
6. Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
7. CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients
8. Clinical phenotypes of infantile onset CACNA1A-related disorder
9. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
10. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
11. Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
12. Pathogenic SCN2A variants are associated with familial and sporadic hemiplegic migraine
13. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
14. Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia
15. Movement disorders in patients with alternating hemiplegia: “Soft” and “stiff” at the same time
16. Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy
17. Mutations in the netrin-1 gene cause congenital mirror movements
18. TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases
19. Additional file 1 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
20. Additional file 5 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
21. Additional file 2 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
22. Additional file 3 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
23. Additional file 4 of Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy
24. SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
25. Loss of heterozygosity in CCM2cDNA revealing a structural variant causing multiple cerebral cavernous malformations
26. Autosomal recessive systemic microangiopathy associated with FANCLFanconi anaemia
27. Efficacy of Caffeine in ADCY5‐Related Dyskinesia: A Retrospective Study
28. Cerebellum Dysfunction in Patients With PRRT2 -Related Paroxysmal Dyskinesia
29. Hemiplegic Migraine Associated With PRRT2 Variations
30. Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine
31. Eye movement disorders are an early manifestation of CACNA1A mutations in children
32. Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
33. CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions
34. Hyperkeratotic cutaneous vascular malformation associated with familial cerebral cavernous malformations (FCCM) with KRIT1/CCM1 mutation
35. Identification of CACNA1A large deletions in four patients with episodic ataxia
36. Defective membrane expression of the [Na.sup.+]-HC[O.sub.3].sup.-] cotransporter NBCe1 is associated with familial migraine
37. Cerebral Cavernous Malformations Arise Independent of the Heart of Glass Receptor
38. Review for "Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants"
39. Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
40. Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling pathway
41. The multiple faces of the ATP1A3-related dystonic movement disorder
42. Caffeine Improved Paroxysmal Dyskinesia Caused by the PRRT2 Mutation
43. Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations
44. Cerebellum Dysfunction in Patients With -Related Paroxysmal Dyskinesia.
45. Hemiplegic Migraine Associated With Variations: A Clinical and Genetic Study.
46. FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9
47. Caractérisation clinico-radio-histopathologique des angioléiomyomes duraux (DALM) du SNC : une entité rare et méconnue !
48. Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations
49. Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
50. Familial form of typical childhood absence epilepsy in a consanguineous context
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