236 results on '"Cazeneuve, C."'
Search Results
2. Pre-symptomatic diagnosis in ALS
3. ALPK3 gene in cardiomyopathies: Which phenotypes? Which mode of inheritance?
4. Methodology to study polymers interaction by surface plasmon resonance imaging
5. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work
6. Autosomal dominant cerebellar ataxias
7. Shear in Carbone-Epoxy Laminates at Various Strain Rates
8. ABORD DE LA SANTE AFFECTIVE ET SEXUELLE DES ADOLESCENTS PAR LES CONSEILLERES CONJUGALES ET FAMILIALES
9. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration
10. Hereditary spastic paraplegias: design of a diagnosis kit using next generation sequencing: EP4252
11. Bioinspired Self-Assembled 3D Patterned Polymer Textures as Skin Coatings Models : Tribology and Tactile Behavior
12. Mélanome sur naevus spilus : 5 observations
13. Deciphering the natural history of SCA7 in children
14. Impact of music therapy before first‐trimester instrumental termination of pregnancy: a randomised controlled trial
15. AN ADORA2A POLYMORPHISM MODIFIES AGE AT ONSET IN HUNTINGTONʼS DISEASE
16. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
17. De nouvelles mutations dans ANXA11 identifiées par analyse d'exomes chez des patients atteints de SLA
18. P09.117D: Distance between oculomotor patterns in premanifestspinocerebellar ataxias reflects disease onset
19. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever
20. MEFV Analysis Is of Particularly Weak Diagnostic Value for Recurrent Fevers in Western European Caucasian Patients
21. Comprehensive Cystic Fibrosis Mutation Epidemiology and Haplotype Characterization in a Southern Italian Population
22. A comparative study of thermoplastic films fracture using the J-integral and the essential work of fracture
23. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers
24. Subcellular localisation of marenostrin/pyrin isoforms carrying the most common mutations involved in familial Mediterranean fever in the presence or absence of its binding partner ASC
25. MEFV gene analysis in PFAPA
26. Clinical versus genetic diagnosis of familial Mediterranean fever
27. Prise en charge des patients lombalgiques chroniques par les ostéopathes
28. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes
29. Motor neuron disease of very long disease duration or Charcot–Marie–Tooth disease? A novel phenotype related to the SOD1 p.E22G variant
30. Detection of rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype charaterization for patients with homozygote mutations
31. A novel nonsense mutation (Y849X) in the CFTR gene of a patient from Southern Italy
32. Surfactant–polymer interactions: molecular architecture does matter
33. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
34. Conventional mutations are associated with a different phenotype than polyglutamine expansions in spinocerebellar ataxias
35. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
36. Sample Size Estimation for Future Therapeutic Trials in SCAs (S12.004)
37. Huntington Disease Like Phenotypes Not Linked to CAG Repeat Expansions in the HTT Gene (S32.002)
38. LOW DISEASE RISK IN RELATIVES OF NORTH AFRICAN LRRK2 PARKINSON DISEASE PATIENTS
39. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
40. Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis
41. α-Synuclein gene duplication is present in sporadic Parkinson disease
42. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
43. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
44. 1.309 Clinical and molecular studies of patients screened for Huntington's disease in a movement disorders clinic from Brazil
45. The E148QMEFV allele is not implicated in the development of familial Mediterranean fever
46. CFTR genotypes in patients with normal or borderline sweat chloride levels
47. NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1 Communicated by: Jurgen Horst Online Citation: Human Mutation, Mutation in Brief #363 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/363.pdf
48. Mutations in theMEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
49. Screening practices for mutations in the CFTR gene ABCC7
50. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.