437 results on '"Bassi, Maria Teresa"'
Search Results
2. A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement
3. Olanzapine, risperidone and ziprasidone differently affect lysosomal function and autophagy, reflecting their different metabolic risk in patients
4. Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion
5. The wide world of technological telerehabilitation for pediatric neurologic and neurodevelopmental disorders – a systematic review
6. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
7. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
8. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
9. Clinical and genetic features of a cohort of patients with MFN2-related neuropathy
10. De Novo Pathogenic Variant in FBRSL1 , Non OMIM Gene Paralogue AUTS2 , Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.
11. Reduction of sacsin levels in peripheral blood mononuclear cells as a diagnostic tool for spastic ataxia of Charlevoix–Saguenay.
12. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
13. A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
14. Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion
15. Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants
16. The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis
17. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
18. A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.
19. Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia
20. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
21. A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene
22. Lysosomal biogenesis as a therapeutic strategy for Hereditary Spastic Paraplegia
23. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation
24. Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
25. Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21
26. Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype
27. Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia
28. Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes
29. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network
30. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial
31. Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis
32. The emerging role of Acid Sphingomyelinase in autophagy
33. Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
34. Modulators of lysosomal functions rescue autophagy and lysosomal defects in SPG15 hereditary spastic paraplegia models
35. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4
36. Epilepsia partialis continua associated with the p.Arg403Cys variant of the DNM1L gene: an unusual clinical progression with two episodes of super-refractory status epilepticus with a 13-year remission interval
37. Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
38. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
39. Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry
40. Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia.
41. Clinical and genetic features of a large cohort of Italian SPG4 patients from the D.A.I.S.Y. collaborative network
42. Syntaxin 4 Is Required for Acid Sphingomyelinase Activity and Apoptotic Function
43. SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features
44. Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI
45. Acid Sphingomyelinase Controls Early Phases of Skeletal Muscle Regeneration by Shaping the Macrophage Phenotype
46. Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
47. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
48. Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review
49. Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene
50. A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy
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