61 results on '"Santoro, Lucio"'
Search Results
2. Pharmacological treatment for familial amyloid polyneuropathy
3. A Model to Study Myelinated Fiber Degeneration and Regeneration in Human Skin
4. Insights into the pathogenesis of ATP1A1 ‐related CMT disease using patient‐specific iPSCs
5. Spinocerebellar ataxia type 2—neuronopathy or neuropathy?
6. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
7. A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene
8. A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia
9. Does motor cortex plasticity depend on the type of mutation in the leucine-rich repeat kinase 2 gene?
10. Pharmacological treatment for familial amyloid neuropathy
11. Epidermal innervation morphometry by immunofluorescence and bright-field microscopy
12. Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene
13. Intraepidermal nerve fiber analysis using immunofluorescence with and without confocal microscopy
14. Charcot‐Marie‐Tooth disease: frequency of genetic subtypes in a Southern Italy population
15. Neuropathy and levodopa in Parkinson's disease: Evidence from a multicenter study
16. A case of congenital cataracts, facial dysmorphisms, neuropathy, and hyperkinetic movement disorder
17. Cutaneous innervation of the human face as assessed by skin biopsy
18. A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family
19. Autonomic nervous system involvement in a new CMT2B family
20. Age at onset and symptom spread in primary adult-onset blepharospasm and cervical dystonia
21. Eye symptoms in relatives of patients with primary adult‐onset dystonia
22. Thermosensitive hereditary neuropathy with liability to pressure palsy
23. Neuropathy in idiopathic Parkinson disease: An Iatrogenic problem?
24. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score
25. Perioral skin biopsy to study skeletal muscle protein expression
26. Reply
27. Two families with novel PMP22 point mutations: genotype–phenotype correlation
28. Case of acute motor conduction block neuropathy (AMCBN)
29. Nine‐year case history of monofocal motor neuropathy
30. Anhidrosis in multiple system atrophy: A preganglionic sudomotor dysfunction?
31. Myelinated nerve endings in human skin
32. Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease)
33. Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17
34. Skin sympathetic adrenergic innervation: An immunofluorescence confocal study
35. Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1
36. Quantification of myelinated endings and mechanoreceptors in human digital skin
37. Postexercise facilitation of motor evoked potentials following transcranial magnetic stimulation: A study in normal subjects
38. Small fibers involvement in Friedreich's ataxia
39. Amiodarone‐induced experimental acute neuropathy in rats
40. Electrophysiological and histological follow‐up study in 15 Friedreich's ataxia patients
41. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
42. The role of skin biopsy in differentiating small-fiber neuropathy from ganglionopathy
43. Motor performance deterioration accelerates after 50 years of age in Charcot‐Marie‐Tooth type 1A patients
44. Novel outcome measures for Charcot−Marie−Tooth disease: validation and reliability of the 6-min walk test and StepWatch™Activity Monitor and identification of the walking features related to higher quality of life
45. Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis
46. Myelinated nerve endings in human skin
47. Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17
48. Multiple mtDNA deletions: Clinical and molecular correlations
49. Case of Myhre syndrome with autism and peculiar skin histological findings
50. Amiodarone-induced experimental acute neuropathy in rats
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