40 results on '"Mantuano, Elide"'
Search Results
2. Leukocyte telomere shortening in Huntington's disease
3. Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study
4. Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington’s Disease: A Pilot Study
5. Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study.
6. Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
7. Circulating U13 small nucleolar RNA as a candidate biomarker for Huntington’s disease
8. Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice
9. A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature
10. Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2
11. Newly characterised 5′ and 3′ regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia
12. Organization of the Human CD40L Gene: Implications for Molecular Defects in X Chromosome-Linked Hyper-IgM Syndrome and Prenatal Diagnosis
13. In Memoriam: Professor Marina Frontali, MD (1941–2021)
14. Construction and preliminary characterization of human recombinant proNGF-A variant
15. Age and gender distribution of COVID-19 infected cases in Italian population
16. Episodic Ataxias: Faux or Real?
17. Different responses of PC12 cells to different pro-nerve growth factor protein variants
18. Novel missense mutation in the ATP1A2 gene associated with atypical sporapedic hemiplegic migraine
19. Different responses of PC12 cells to different pro-nerve growth factor protein variants
20. Characterization of human frataxin missense variants in cancer tissues
21. Can leukocyte telomere shortening be a possible biomarker to track Huntington’s disease progression?
22. Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1)
23. A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
24. Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation
25. Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2
26. Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea
27. A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation
28. Use of the highly polymorphic marker M27-beta for carrier detection in the Wiskott-Aldrich syndrome
29. Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop
30. Evidence for linkage equilibrium between two RFLPs associated with the human SST locus
31. A fine physical map of the CACNA1A gene region on 19p13.1–p13.2 chromosome
32. Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1
33. X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene
34. Application of Molecular Analysis to Genetic Counseling in the Wiskott–Aldrich Syndrome (WAS)
35. Unusual Age‐Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia.
36. Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p.
37. Episodic Ataxias: looking for new genes by next generation sequencing approach
38. Episodic ataxias: looking for new genes by next generation sequencing approach
39. Characterization of human frataxin missense variants in cancer tissues
40. Can leukocyte telomere shortening be a possible biomarker to track Huntington's disease progression?
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