258 results on '"Mignarri, Andrea"'
Search Results
2. Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
3. 24S-Hydroxycholesterol and Cerebellar Degeneration: Insights from SCA2
4. Primary familial brain calcification with mild phenotype due to a new PDGFB mutation
5. Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
6. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
7. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
8. Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia
9. Oculomotor features in SCA27B patients
10. Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study
11. The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies
12. Familial Alzheimer's disease associated with heterozygous NPC1 mutation.
13. Familial Alzheimer’s disease associated with heterozygousNPC1mutation
14. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
15. Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita
16. Oculomotor features in SCA27B patients
17. Imaging of the thymus in myotonic dystrophy type 1
18. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies
19. Brachial plexopathy due to breast cancer metastases: electrophysiological and imaging findings
20. The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression
21. Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations
22. A recessive ataxia diagnosis algorithm for the next generation sequencing era
23. Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis
24. 24S-Hydroxycholesterol and Cerebellar Degeneration: Insights from SCA2
25. Clinical Features and Outcome of the Guillain–Barre Syndrome: A Single-Center 11-Year Experience
26. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network
27. Primary familial brain calcification: update on molecular genetics
28. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4
29. Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion
30. Treatment of SPG5 with cholesterol-lowering drugs
31. Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4
32. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis
33. Clinical and genetic features of a large cohort of Italian SPG4 patients from the D.A.I.S.Y. collaborative network
34. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
35. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
36. C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease
37. Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis
38. Long-Term Bone Density Evaluation in Cerebrotendinous Xanthomatosis: Evidence of Improvement after Chenodeoxycholic Acid Treatment
39. NGS in Hereditary Ataxia: When Rare Becomes Frequent
40. Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene
41. Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
42. Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism
43. Cerebellum and neuropsychiatric disorders: insights from ARSACS
44. Primary familial brain calcification: Genetic analysis and clinical spectrum
45. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN
46. Occurrence of ankylosing spondylitis and multiple sclerosis-like syndrome in a HLA-B27 positive patient
47. Lithium neurotoxicity mimicking rapidly progressive dementia
48. Primary familial brain calcification caused by MYORG mutations in an Italian family
49. First report of an Iraqi Kurdish CADASIL patient
50. Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
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