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1. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

3. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

4. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

5. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

6. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

7. ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

8. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion

9. HFE p.H63D polymorphism does not influence ALS phenotype and survival

10. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

11. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

13. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

14. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

18. Consensus recommendations of the Italian Association for Neuroimmunology for immunochemical cerebrospinal fluid examination

19. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

20. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

26. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

27. Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.

31. The HFE p.HIS63ASP polymorphism modifies ALS outcome in patients with SOD1 mutations

32. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

33. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

34. The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.

35. Geographic differences in the incidence of Huntington's disease in Sardinia, Italy.

36. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

37. Prevalence of Huntington's disease in Southern Sardinia, Italy.

38. Assessing the Metabolomic Profile of Multiple Sclerosis Patients Treated with Interferon Beta 1a by 1 H-NMR Spectroscopy.

39. Cardiac Abnormalities in Alzheimer Disease: Clinical Relevance Beyond Pathophysiological Rationale and Instrumental Findings?

41. Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.

42. Progressive apraxia of speech in a patient with a C9orf72 mutation.

43. TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

44. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.

45. Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.

46. (1)H-NMR analysis provides a metabolomic profile of patients with multiple sclerosis.

47. A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population.

48. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.

49. A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: the TARDBP Ala382Thr mutation and C9orf72 expansion.

50. HFE p.H63D polymorphism does not influence ALS phenotype and survival.

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