52 results on '"F.L. Conforti"'
Search Results
2. Report of an ALS case associated with a new mutation in the TARDBP gene
Catalog
Books, media, physical & digital resources
3. Brown-Vialetto-Van Laere syndrome: a case report of a family from Italy
4. R521C mutation in the FUS gene in a large Italian family
5. A patient affected by CADASIL carrying a novel mutation on the exon 7 of the NOTCH3 gene
6. Seizures and Epilepsy in the Setting of Neurofibromatosis Type 1 (NF1): a Population-Based, Genotype-Phenotype Study
7. Natural history of neurofibromatosis type 2 (NF2) in the paediatric age: a prospective clinical and molecular study
8. A CLINICAL AND MOLECULAR STUDY IN A CHILD UNDER 1 YEAR OF AGE AFFECTED BY NEUROFIBROMATOSIS TYPE 2
9. A novel missense mutation of the NF2 gene in a severely affected boy and his healthy father
10. A Novel Notch3 Gene Mutation In A Patient With Cadasil From Southern Italy
11. A novel Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy
12. DISTINGUISHING APPARENTLY SPORADIC CADASIL FROM OTHER LEUCOENCEPHALOPATHIES:THE ROLE OF MAGNETIC RESONANCE IMAGING IN THE NOTCH3 GENE SCREENING
13. HNPP Due To A Novel Frameshift Mutation Of The PMP22 Gene
14. Ricerca di mutazioni nel gene jag1 e loro possibile implicazione nella modulazione di fenotipi simili al Cadasil
15. Medial Temporal Lobe Activity In Cognitively Unimpaired Patients With Sporadic Amyotrophic Lateral Sclerosis
16. Nuove Mutazioni Del Gene Mecp2 Identificate In Pazienti Affetti Da Sindrome Di Rett Provenienti Dallitalia Meridionale
17. Nuove mutazioni identificate nel gene della spastina in soggetti affetti da Paraplegia Spastica Ereditaria
18. Novel Mecp2 Mutations Identified In Patients From Southern Italy With Rett syndrome
19. Neurofibromatosis Type 2 (Nf2) In Children Under 1 Year Of Age: A Clinical And Molecular Study
20. Subcortical Motor Plasticity In Patients With Sporadic Amyotrophic Lateral Sclerosis
21. SLA sporadica e mutazioni del gene VAPB nellItalia meridionale
22. Assenza di correlazione tra sclerosi multipla familiare (SM) e mutazioni nel gene eIF2B5
23. Notch3 screening in patients with sporadic leucoencephalopathy
24. Sporadic ALS and VAPB gene mutations in Southern Italy
25. Tre nuove mutazioni nel gene SPG4 identificate in pazienti affetti da paraparesi spastica ereditaria
26. Absence of heart abnormalities in subjects not carryng large NF1 gene deletions
27. Functional Cortical Changes In Amyotrophic Lateral Sclerosis: An FMRI Study In The Early Stage Of The Disease
28. Three novel mutations in CX32 gene detected by DHPLC mutation analysis
29. Mutational analysis in NF1 patients screened for heart abnormalities
30. Molecular testing in Neurofibromatosis type 1 (NF1): Mutational spectrum, patterns of recurrence and correlation with clinical features in Italy
31. New spastin (SPG4) mutations in patients with Hereditary Spastic Paraplegia
32. Five novel mutations in CX32 gene detected by DHPLC mutation analysis
33. Novel spastin mutations in two Italian patients with hereditary spastic paraplegia
34. Could Mitochondrial Haplogroups Play A Role In Sporadic Amyotrophic Lateral Sclerosis?
35. Denaturing High Performance Liquid Chromatography (DHPLC) for the mutational analysis of the Spast gene
36. Identificazione di una nuova mutazione nel gene SOD1 in un paziente affetto da Diplegia Brachiale Amiotrofica
37. Clinical and genetic study of an Italian family with CADASIL: a novel Notch3 mutation not involving a cysteine residue
38. A novel SOD1 mutation in a patient with Brachial Amyotrophic Diplegia
39. Analisi mutazionale del gene NF1 in pazienti del sud Italia affetti da Neurofibromatosi di tipo I: identificazione di 21 nuove mutazioni
40. Twenty novel mutations revealed by DHPLC analysis of the Neurofibromatosys type 1 (NF1) gene in unselected southern Italian NF1 patients
41. Identification of four novel pathogenic mutations in patients from Southern Italy with CADASIL
42. A splice-junction mutation in Sbf2 gene causes autosomal recessive Charcot-Marie-Tooth disease (CMT4B2) in a family from southern Italy
43. Splice-Junction Mutation In Sbf2 Gene Causes Autosomal Recessive Charcot-Marie-Tooth Disease (CMT4B2) In A Family from Southern Italy
44. Eight novel mutations revealed by means of DHPLC mutational analysis of the Neurofibromatosis type I (NF1) gene in NF1 patients from Sicily and Calabria (Southern Italy)
45. Clinical and genetic study of an Italian Family with a new form of Autosomal Dominant Complicated Spastic Paraplegia
46. Screening delle mutazioni del gene NOTCH3 in famiglie CADASIL provenienti dal sud Italia
47. Notch3 mutations in families with CADASIL from Southern Italy
48. Diagnosi di CMT e HNPP con PCR quantitativa Real time
49. Caratterizzazione dei portatori sani SMA con Real time PCR
50. A new insertion of CC in exon 4 of PMP22 gene in a patient with Ereditary Neuropathy with Liability to Pressure Palsies (HNPP)
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.