207 results on '"Magri, Stefania"'
Search Results
2. Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders
3. Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients
4. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
5. Application of machine learning techniques to derive sea water turbidity from Sentinel-2 imagery
6. Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy
7. Next‐generation sequencing in pediatric‐onset epilepsies: Analysis with target panels and personalized therapeutic approach.
8. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
9. 3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy
10. Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation
11. Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population
12. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature
13. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
14. Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
15. Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia
16. Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes
17. Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene
18. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
19. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature
20. A novel NDRG1 mutation in a non‐Romani patient with CMT4D/HMSN‐Lom
21. DNAJB2 ‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening
22. Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings
23. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature
24. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
25. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
26. Hereditary leukodystrophy with spheroids (HLDS) and Nasu-Hakola disease (NHD): Reports of seven Italian cases to highlight key diagnostic features
27. Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations
28. Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol
29. Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy
30. Numerical Modelling for Environmental Impact Assessment of Sediment Dispersion in Port Areas
31. Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations
32. A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children
33. Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients
34. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions solves the enigma of SCA17 and SCA48 incomplete penetrance
35. Hypomyelinating leukodystrophies in adults: Clinical and genetic features
36. Missing the pathological expansion in Huntington disease: de novo c. 51C >G variant on the expanded allele causing intrafamilial allele dropout
37. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene
38. Expanding the phenotypic spectrum ofTRIM2‐associated Charcot‐Marie‐Tooth disease
39. Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients
40. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
41. Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation
42. Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms
43. RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum
44. HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature
45. From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations
46. Expanding the spectrum of genes responsible for hereditary motor neuropathies
47. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
48. A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene
49. Digenic inheritance of STUB1variants and TBPpolyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48
50. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
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