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69 results on '"Chiò, Adriano"'

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1. Artificial intelligence and statistical methods for stratification and prediction of progression in amyotrophic lateral sclerosis: A systematic review

2. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

3. The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

4. C9orf72 ALS mutation carriers show extensive cortical and subcortical damage compared to matched wild-type ALS patients

6. Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study

9. The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment

13. The interplay among education, brain metabolism, and cognitive impairment suggests a role of cognitive reserve in Amyotrophic Lateral Sclerosis

14. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

15. A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation

17. Lifetime sport practice and brain metabolism in Amyotrophic Lateral Sclerosis

18. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

19. Mutations in the Sphingolipid Pathway Gene SPTLC1 are a Cause of Amyotrophic Lateral Sclerosis

20. A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms

21. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

22. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

24. Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

27. Multimodal structural MRI in the diagnosis of motor neuron diseases

28. Intraspinal stem cell transplantation for amyotrophic lateral sclerosis: Ready for efficacy clinical trials?

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

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

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

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

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

38. Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

41. Reduced cellular Ca2+ availability enhances TDP-43 cleavage by apoptotic caspases

43. Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

44. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study

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

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

49. The chromosome 9 ALS and FTD locus is probably derived from a single founder

50. A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

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