29 results on '"Pozzi, Elisa"'
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2. Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
3. Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
4. Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study
5. A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy
6. In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients
7. Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
8. Spinocerebellar Ataxia Tethering PCR
9. Mice harboring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
10. A novel homozygous change ofCLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
11. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
12. Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia
13. Adverse Perinatal Outcome in Subsequent Pregnancy after Stillbirth by Placental Vascular Disorders
14. Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival
15. Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia
16. An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
17. Stillbirths in singletons, dichorionic and monochorionic twins: a comparison of risks and causes
18. Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)
19. 403: Stillbirths: a comparison of singletons vs twins
20. 382: Determinants of parental decision after prenatal diagnosis of isolated Spina Bifida
21. Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome
22. Risk assessment for Down syndrome with genetic sonogram in women at risk
23. Identifying the causes of stillbirth: a comparison of four classification systems
24. 145: Midtrimester sonographic findings for the prediction of Down syndrome in a population at risk
25. 286: Etiology of stillbirth: Comparison between two classification
26. Midtrimester sonographic findings for the prediction of down syndrome in a population at risk
27. Maternal polymorphisms for methyltetrahydrofolate reductase (MTHFR) and methioninesynthetasi-reductase (MTRR) and risk of children with down syndrome: A geographic effect?
28. Preterm twins: What threshold of birth weight discordance heralds major adverse neonatal outcome?
29. Doppler predictors of adverse neonatal outcome in the growth restricted fetus at 34 weeks' gestation or beyond
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