Search

Your search keyword '"Lucia, Ruggiero"' showing total 85 results

Search Constraints

Start Over You searched for: Author "Lucia, Ruggiero" Remove constraint Author: "Lucia, Ruggiero"
85 results on '"Lucia, Ruggiero"'

Search Results

1. Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

2. Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function

3. Breakthrough SARS-CoV-2 infections after COVID-19 mRNA vaccination in MS patients on disease modifying therapies during the Delta and the Omicron waves in Italy

4. Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

5. Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

6. Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination

7. Effect of SARS-CoV-2 mRNA vaccination in MS patients treated with disease modifying therapies

8. Value of Antibody Determinations in Chronic Dysimmune Neuropathies

9. Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience

10. Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report

11. Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

12. Cardiovascular Involvement in mtDNA Disease

13. Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

14. One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?

15. Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

16. <scp>The neuropathy in hereditary transthyretin amyloidosis</scp> : A <scp>narrative review</scp>

17. Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

18. BDNF polymorphism and interhemispheric balance of motor cortex excitability: a preliminary study

19. An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia

20. A review of current rehabilitation practices and their benefits in patients with multiple sclerosis

21. Different cortical excitability profiles in hereditary brain iron and copper accumulation

22. microRNAs as biomarkers in Pompe disease

23. The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study

24. Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease

25. Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH

26. Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report

27. Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients

28. Personality traits associated with blepharospasm: A comparison with healthy subjects, patients with facial hemispasm and patients with hyperhidrosis

29. Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

30. Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

31. Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

32. Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH

33. Mitochondrial neuro-gastro-intestinal encephalomyopathy: A case report

35. What is the clinical significance of the facial-sparing phenotype in facioscapulohumeral muscular dystrophy? A nation-wide cross-sectional study

37. Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

38. Copy number variants account for a tiny fraction of undiagnosed myopathic patients

39. Motor performance deterioration accelerates after 50 years of age in Charcot‐Marie‐Tooth type 1A patients

40. Congenital myopathies: clinical phenotypes and new diagnostic tools

41. Early predictive factors of disability in CIDP

42. A Five-Year Longitudinal Study in Facioscapolohumeral Muscular Dystrophy: Assessment of Variables Influencing Disease Progression

43. RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families

44. Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP

45. Alemtuzumab in Covid era

46. Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

47. One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?

48. Muscle pain syndromes and fibromyalgia: the role of muscle biopsy

49. Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

50. P.110Clinical, morphological and genetic data in Italian patients with fiber-type-disproportion

Catalog

Books, media, physical & digital resources