588 results on '"Moroni, Isabella"'
Search Results
2. FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
3. Biallelic USP14 variants cause a syndromic neurodevelopmental disorder
4. Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice
5. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
6. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
7. Kearns-Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy
8. Growing into adulthood with Duchenne muscular dystrophy
9. Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients
10. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
11. Parent‐proxy pediatric CMT quality of life outcome measure: Validation of the Italian version.
12. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
13. Correction to: Kearns‑Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy
14. Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience
15. Mitochondrial epilepsy: a cross-sectional nationwide Italian survey
16. Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease
17. NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
18. Responsiveness of gait analysis parameters in a cohort of 71 CMT subjects
19. Nutritional status of children affected by X‐linked adrenoleukodystrophy
20. Phenotyping mtDNA ‐related diseases in childhood: a cohort study of 150 patients
21. Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)
22. A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
23. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature
24. A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
25. Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
26. “Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
27. Bone and Spinal Muscular Atrophy
28. Natural history of Charcot‐Marie‐Tooth disease during childhood
29. Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients.
30. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
31. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment
32. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
33. Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
34. Encephalopathies with intracranial calcification in children: clinical and genetic characterization
35. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
36. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
37. Peripheral neuropathy in mitochondrial disorders
38. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues
39. Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation
40. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients
41. Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach
42. Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease
43. Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
44. Early neurodevelopmental assessment in Duchenne muscular dystrophy
45. Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease
46. Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin
47. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations
48. Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study
49. Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
50. Redefining phenotypes associated with mitochondrial DNA single deletion
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