323 results on '"Ardissone, Anna"'
Search Results
2. Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses
3. Antibody Deficiency in Patients with Biallelic KARS1 Mutations
4. Disorders of Niacin, NAD, and Pantothenate Metabolism
5. Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations
6. Kearns-Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy
7. Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients
8. SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
9. A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly
10. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data
11. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessments
12. A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments
13. Correction to: Kearns‑Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy
14. Mitochondrial epilepsy: a cross-sectional nationwide Italian survey
15. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
16. Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
17. A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood
18. Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome in a Moroccan Family: A Literature Review
19. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
20. Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
21. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I
22. A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.
23. Teaching NeuroImages: Symmetrical abnormalities of the globi pallidi in succinic semialdehyde dehydrogenase deficiency
24. Mitochondrial Genes and Neurodegenerative Disease
25. Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis
26. NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia
27. New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
28. “Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
29. Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature
30. A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature
31. Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
32. Nutritional status of children affected by X‐linked adrenoleukodystrophy
33. Phenotyping mtDNA ‐related diseases in childhood: a cohort study of 150 patients
34. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
35. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes
36. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
37. KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
38. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues
39. Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach
40. Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease
41. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults
42. Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients.
43. Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report
44. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance
45. CHILDHOOD ONSET OF ACQUIRED NEUROMYOTONIA: ASSOCIATION WITH A GANGLIONEUROMA
46. Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
47. Double-trouble in pediatric neurology: Myotonia congenita combined with charcot–marie–tooth disease type 1a
48. A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C
49. Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes
50. Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases
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