47 results on '"Cazeneuve, Cécile"'
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2. Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations
3. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
4. Genetic and Molecular Studies
5. Propensity for somatic expansion increases over the course of life in Huntington disease
6. Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center’s Experience Over 5 Years
7. Author response: Propensity for somatic expansion increases over the course of life in Huntington disease
8. Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities
9. SOD1-related ALS with anticipation in a large family from Martinique
10. Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis
11. Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
12. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
13. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers
14. Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach
15. Prenatal testing in Huntington disease: after the test, choices recommence
16. TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
17. Charcot-Marie-Tooth Disease Type 2A
18. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes
19. Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
20. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
21. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
22. Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes
23. Characteristics of clinical and electrophysiological pattern of Charcot‐Marie‐Tooth 4C
24. REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
25. Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype
26. Screening of OPTN in French familial amyotrophic lateral sclerosis
27. A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease
28. Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation
29. Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
30. Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
31. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson’s disease
32. Huntington's disease-like 2 in Brazil-Report of 4 patients
33. Interaction of pyrin with 14.3.3 in an Isoform-specific and phosphorylation-dependent manner regulates its translocation to the nucleus
34. The Tumor Necrosis Factor α-dependent Activation of the Human Mediterranean Fever (MEFV) Promoter Is Mediated by a Synergistic Interaction between C/EBPβ and NFκB p65
35. Clinical Evaluation of a Reverse Hybridization Assay for the Molecular Detection of Twelve MEFV Gene Mutations
36. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations
37. MEFV gene analysis in PFAPA
38. Cystic fibrosis transmembrane conductance regulator (CFTR) gene defects in patients with primary sclerosing cholangitis
39. Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations
40. Identification of MEFV-Independent Modifying Genetic Factors for Familial Mediterranean Fever
41. Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions
42. Evaluation of Parental Mitochondrial Inheritance in Neonates Born after Intracytoplasmic Sperm Injection
43. Detection of Five Rare Cystic Fibrosis Mutations Peculiar to Southern Italy: Implications in Screening for the Disease and Phenotype Characterization for Patients with Homozygote Mutations
44. MEFV-Gene Analysis in Armenian Patients with Familial Mediterranean Fever: Diagnostic Value and Unfavorable Renal Prognosis of the M694V Homozygous Genotype—Genetic and Therapeutic Implications
45. Hemochromatosis C282Y mutation and histological fibrosis in patients with C virus chronic hepatitis
46. A noval nonsense mutation (Y849X) in the CFTR gene of a CF patient from southern Italy Communicated by: Garry R. Cutting Online Citation: Human Mutation, Mutation and Polymorphism Report #69 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr69.pdf Acknowledgments: Grants from MURST (PRIN 1997), Rome, Italy, Regione Campania (LR41/94), CNR (P.F. Biotecnologie), and Ministero della Sanità (Rome) are gratefully acknowledged.
47. CFTR Gene Mutations in Adults with Disseminated Bronchiectasis
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