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33 results on '"Restagno G."'

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1. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

2. Genetic counselling in ALS: facts, uncertainties and clinical suggestions

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

4. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

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

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

7. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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

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

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

11. Integrated Strategy for Fast and Automated Molecular Characterization of Genes Involved in Craniosynostosis

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

13. Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology

14. Severe and long-lasting disruption of T-cell receptor diversity in human myeloma after high-dose chemotherapy and autologous peripheral blood progenitor cell infusion

15. Autosomal dominant polycystic kidney disease: a linkage evaluation of heterogeneity in Italy. Italian Collaborative Group on Polycystic Kidney Disease

16. DNA marker analysis of adult polycystic kidney disease in Italian families. Italian Cooperative Group on ADPKD

17. Carrier detection for prenatal diagnosis of hemophilia A in Italian families

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

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

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

21. Fetal DNA detection in maternal plasma throughout gestation

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

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

24. Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report

25. Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy

26. Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study

27. Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia

28. FUS mutations in sporadic amyotrophic lateral sclerosis

29. Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene

30. Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of ß-thalassemia

31. Different approaches for noninvasive prenatal diagnosis of genetic diseases based on PNA-mediated enriched PCR

32. Feasibility Study for a Microchip-Based Approach for Noninvasive Prenatal Diagnosis of Genetic Diseases

33. Molecular Basis of childhood deafness resulting from mutations in the GJB2 (connexin26) gene

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