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37 results on '"Serena Lattante"'

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1. M6A reduction relieves FUS-associated ALS granules

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

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

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

5. 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

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

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

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

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

10. LETM1 couples mitochondrial DNA metabolism and nutrient preference

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

12. 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

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

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

15. Short Report: Analysis of STMN2 CA repeats in italian ALS patients shows no association

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

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

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

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

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

22. High-throughput genetic testing in ALS: The challenging path of variant classification considering the acmg guidelines

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

24. LETM1 couples mitochondrial DNA metabolism and nutrient preference

25. 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

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

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

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

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

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

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

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

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

34. TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

35. Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

36. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

37. Rare missense variants of neuronal nicotinic acetylcholine receptors altering receptor function are associated with Sporadic Amyotrophic Lateral Sclerosis

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