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47 results on '"Peverelli S."'

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2. Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population.

3. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)

4. Cerebrospinal fluid phosphorylated neurofilament heavy chain and chitotriosidase in primary lateral sclerosis

5. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

6. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)

7. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (Nature Genetics, (2021), 53, 12, (1636-1648), 10.1038/s41588-021-00973-1)

8. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

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

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

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

16. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

17. Cerebrospinal fluid phosphorylated neurofilament heavy chain and chitotriosidase in primary lateral sclerosis

18. Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype.

19. Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.

20. NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.

21. Association of APOE genotype and cerebrospinal fluid Aβ and tau biomarkers with cognitive and motor phenotype in amyotrophic lateral sclerosis.

22. Analysis of normal C9orf72 repeat length as possible disease modifier in amyotrophic lateral sclerosis.

23. Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation.

25. Exploring epigenetic drift and rare epivariations in amyotrophic lateral sclerosis by epigenome-wide association study.

27. Relationship between cerebrospinal fluid/serum albumin quotient and phenotype in amyotrophic lateral sclerosis: a retrospective study on 328 patients.

28. Phenotypic correlates of serum neurofilament light chain levels in amyotrophic lateral sclerosis.

29. Association of the risk factor UNC13A with survival and upper motor neuron involvement in amyotrophic lateral sclerosis.

30. Generation of five induced pluripotent stem cells lines from four members of the same family carrying a C9orf72 repeat expansion and one wild-type member.

31. Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.

32. Serum levels of glial fibrillary acidic protein in patients with amyotrophic lateral sclerosis.

33. Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects.

34. Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis.

35. Serum neurofilament light chain levels in Covid-19 patients without major neurological manifestations.

36. TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms.

37. TMEM106B Acts as a Modifier of Cognitive and Motor Functions in Amyotrophic Lateral Sclerosis.

38. Parkinsonian Syndromes in Motor Neuron Disease: A Clinical Study.

39. Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes.

40. Genetic characterization of a cohort with familial parkinsonism and cognitive-behavioral syndrome: A Next Generation Sequencing study.

41. Cerebrospinal fluid phosphorylated neurofilament heavy chain and chitotriosidase in primary lateral sclerosis.

42. Reprogramming fibroblasts and peripheral blood cells from a C9ORF72 patient: A proof-of-principle study.

43. Motor neuron differentiation of iPSCs obtained from peripheral blood of a mutant TARDBP ALS patient.

44. Survival of hepatocellular carcinoma patients is significantly improving: a population-based study from southern Switzerland.

45. Opportunistic screening strategy for cutaneous melanoma does not change the incidence of nodular and thick lesions nor reduce mortality: a population-based descriptive study in the European region with the highest incidence.

46. Abnormalities of endocrine function in patients with clinically "silent" adrenal masses.

47. [Clinical and preclinical aspects of adrenal Cushing syndrome].

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