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73 results on '"Lattante S"'

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1. Induced pluripotent stem cell production (CSSi019-A)(14432) from an asymptomatic subject carrying a expansion of C9orf72 gene.

2. A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1 .

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3. Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.

4. M 6 A reduction relieves FUS-associated ALS granules.

5. Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene.

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

7. Characterization of SOD1-DT, a Divergent Long Non-Coding RNA in the Locus of the SOD1 Human Gene.

8. Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.

9. Analysis of STMN2 CA repeats in italian ALS patients shows no association.

10. Allele-specific silencing as therapy for familial amyotrophic lateral sclerosis caused by the p.G376D TARDBP mutation.

11. Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.

12. Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.

13. Adult phenotype in Koolen-de Vries/ KANSL1 haploinsufficiency syndrome.

14. FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees.

15. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration.

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

17. Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.

18. Targeting S100A4 with niclosamide attenuates inflammatory and profibrotic pathways in models of amyotrophic lateral sclerosis.

19. Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein.

20. Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.

21. High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

22. SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum.

23. ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43.

24. Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.

25. The S100A4 Transcriptional Inhibitor Niclosamide Reduces Pro-Inflammatory and Migratory Phenotypes of Microglia: Implications for Amyotrophic Lateral Sclerosis.

26. Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

27. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.

28. Generation and characterization of a human iPSC line from an ALS patient carrying the Q66K-MATR3 mutation.

29. LETM1 couples mitochondrial DNA metabolism and nutrient preference.

30. ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis.

31. A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.

32. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

33. Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

34. ATXN2 trinucleotide repeat length correlates with risk of ALS.

35. Matrin 3 variants are frequent in Italian ALS patients.

36. Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

37. New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.

38. Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

39. Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations.

40. Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

41. Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD.

42. ATXN2 polyQ intermediate repeats are a modifier of ALS survival.

43. Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.

44. Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

45. Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

46. hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

47. Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

48. TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.

50. Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.