376 results on '"Salsano, Ettore"'
Search Results
2. Interval between contrast administration and T1-weighted MRI for cerebral adrenoleukodystrophy: a single-case observation
3. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
4. Significance and clinical suggestions for the somatosensory evoked potentials increased in amplitude revealed by a large sample of neurological patients
5. Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency
6. Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature
7. Primary brain calcification: an international study reporting novel variants and associated phenotypes.
8. International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach
9. Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation
10. Pain Study in X-Linked Adrenoleukodystrophy in Males and Females
11. Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia
12. 3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy
13. Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.
14. Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study
15. Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum
16. Correction to: Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia
17. Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency
18. Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type C
19. Asymptomatic adrenoleukodystrophy in elderly males
20. Adult-onset Krabbe disease: The importance of a systematic approach to brain MRI findings
21. MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism
22. Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?
23. Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy
24. Leukodystrophies
25. Adult leukoencephalopathies with prominent infratentorial involvement can be caused by Erdheim–Chester disease
26. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial
27. Principi di terapia genica
28. Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features
29. Clinical and Genetic Characterization of Leukoencephalopathies in Adults
30. Peripheral neuropathy in mitochondrial disorders
31. Clinical and Genetic Characterization of Leukoencephalopathies in Adults
32. Posterior column ataxia with retinitis pigmentosa coexisting with sensory‐autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation
33. Hereditary gelsolin amyloidosis (HGA): a neglected cause of bilateral progressive or recurrent facial palsy
34. Significance and clinical suggestions for the Somatosensory Evoked Potentials increased in amplitude revealed by a large sample of neurological patients
35. Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings
36. Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann–Sträussler–Scheinker disease Pro102Leu
37. Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
38. Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients
39. A new mutation in GJC2 associated with subclinical leukodystrophy
40. Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes
41. Hereditary leukodystrophy with spheroids (HLDS) and Nasu-Hakola disease (NHD): Reports of seven Italian cases to highlight key diagnostic features
42. Selective theory of mind impairment and cerebellar atrophy: a case report
43. Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
44. Vertical supranuclear gaze palsy in Niemann-Pick type C disease
45. A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C
46. Clinical neurogenetics: recent advances
47. FABP4 is a candidate marker of cerebellar liponeurocytomas
48. Expression profile of frizzled receptors in human medulloblastomas
49. Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48
50. X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation
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