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23 results on '"Restagno G."'

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

16. Fetal DNA detection in maternal plasma throughout gestation

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

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

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

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

21. FUS mutations in sporadic amyotrophic lateral sclerosis

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

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

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