50 results on '"Mazzei, Rosalucia"'
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2. Notch3 protein expression in skin fibroblasts from CADASIL patients
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3. Copy number variations and stroke
4. Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case
5. Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?
6. Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
7. Genomic analysis identify a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease
8. A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1
9. Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria
10. A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3
11. Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia
12. THE p.ARG416CYS MUTATION IN SPG3A GENE ASSOCIATED WITH A PURE FORM OF SPASTIC PARAPLEGIA
13. A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL
14. Comparison of different techniques for detecting 17p12 duplication in CMT1A
15. Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy
16. A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis
17. A Novel Mutation in the Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Genetic and Magnetic Resonance Spectroscopic Findings
18. FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis
19. A review of the antimicrobial potential of herbal drugs used in popular Italian medicine (1850s–1950s) to treat bacterial skin diseases
20. Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case
21. Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?
22. Italian folk plant-based remedies to heal headache (XIX-XX century)
23. The Spectrum of ROBO3 Mutations in Horizontal Gaze Palsy with Progressive Scoliosis: An Update
24. Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene
25. Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
26. Ile587Val Polymorphism of the eIF2B5 Gene as Susceptibility Factor for Multiple Sclerosis
27. A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1
28. Clinical, genetic and magnetic resonance findings in an Italian patient affected by l-2-hydroxyglutaric aciduria
29. Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy
30. Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy
31. A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies
32. Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
33. Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?
34. Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis
35. A Simple Method for Diagnosis of Autosomal Recessive Spinal Muscular Atrophy by Denaturing High-Performance Liquid Chromatography
36. Mutation analysis of the MECP2 gene in patients with Rett syndrome
37. Rett Syndrome Phenotype Following Infantile Acute Encephalopathy
38. Further evidence thatSPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
39. Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Genetic and Magnetic Resonance Spectroscopic Findings.
40. SMN1 gene copy number analyses for SMA healthy carriers in Italian population
41. Mutation analysis of the MECP2 gene in patients with Rett syndrome
42. FUS Gene Analysis in Amyotrophic Lateral Sclerosis Patients in South Italy
43. Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia.
44. CYSTEINE-SPARING NOTCH3MUTATIONS CADASIL OR CADASIL VARIANTS?
45. Further evidence that <TOGGLE>SPG3A</TOGGLE> gene mutations cause autosomal dominant hereditary spastic paraplegia
46. Further evidence that SPG3Agene mutations cause autosomal dominant hereditary spastic paraplegia
47. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
48. Cysteine-sparing notch3 mutations: cadasil or cadasil variants?
49. Gene symbol: NOTCH3. Disease: CADASIL.
50. Gene symbol: MECP2. Disease: Rett syndrome.
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