266 results on '"Vattemi, Gaetano"'
Search Results
2. The FSHD jigsaw: are we placing the tiles in the right position?
3. Sporadic Inclusion Body Myositis at the Crossroads between Muscle Degeneration, Inflammation, and Aging
4. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes
5. Upper camptocormia in Parkinson's disease: Neurophysiological and imaging findings of both central and peripheral pathophysiological mechanisms
6. Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids
7. Sporadic Inclusion Body Myositis at the Crossroad between Muscle Degeneration, Inflammation and Aging
8. Multiple acyl-COA dehydrogenase deficiency in elderly carriers
9. Toll‐like receptors and IL‐7 as potential biomarkers for immune‐mediated necrotizing myopathies
10. A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy
11. Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish
12. Physical training promotes remodeling of the skeletal muscle extracellular matrix: An ultrastructural study in a murine model of Down syndrome.
13. Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish
14. Levofloxacin-induced hemichorea-hemiballism in a patient with previous thalamic infarction
15. WE-163. Myopathy in Sars-CoV2-positive patients with intensive care unit acquired weakness (ICUAW): Correlations between neurophysiological anomalies and muscle biopsy findings
16. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy
17. Neuronal intermediate filament paraneoplastic autoimmunity complicating avelumab therapy of Merkel cell carcinoma
18. Ryanodine receptor 1 ( RYR1 ) mutations in two patients with tubular aggregate myopathy
19. Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis
20. Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies
21. Clinical, Histopathologie, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
22. Acute inflammatory demyelinating polyneuropathy as a manifestation of chronic lymphoproliferative disorder of NK cells
23. Expanding the clinical and genetic spectrum of pathogenic variants in STIM1
24. Pisa syndrome in Parkinson’s disease: an electrophysiological and imaging study
25. A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates
26. Amyloid-β42 is preferentially accumulated in muscle fibers of patients with sporadic inclusion-body myositis
27. Neuropathology of mitochondrial diseases
28. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes
29. Overexpression of TNF-α in mitochondrial diseases caused by mutations in mtDNA: evidence for signaling through its receptors on mitochondria
30. Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases
31. Non-Hematologic Toxicity of Bortezomib in Multiple Myeloma: The Neuromuscular and Cardiovascular Adverse Effects
32. Amyloid myopathy: an intriguing diagnosis
33. Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
34. Acetylcholine Receptor-Antibody-Positive Myasthenia Gravis Presenting with Early Atrophy and Nonfluctuating Weakness of Proximal Limb Muscles
35. Chronic-graft-versus-host-disease-related polymyositis: a 17-months-old child with a rare and late complication of haematopoietic stem cell transplantation.
36. Diagnostic performance and validation of autoantibody testing in myositis by a commercial line blot assay
37. A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture
38. Brody Disease: Insights Into Biochemical Features of SERCA1 and Identification of a Novel Mutation
39. SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy
40. Human Skeletal Muscle as a Target Organ of Trichloroethylene Toxicity
41. Cystatin C colocalizes with amyloid-β and coimmunoprecipitates with amyloid-β precursor protein in sporadic inclusion-body myositis muscles
42. BACE1 and BACE2 in pathologic and normal human muscle
43. Increased Expression of the Normal Cellular Isoform of Prion Protein in Inclusion-Body Myositis, Inflammatory Myopathies and Denervation Atrophy
44. Benign acute viral myositis in African migrants: A clinical, serological, and pathological study
45. Relapsing-remitting painful masses of the skeletal muscle
46. Presence of BACE1 and BACE2 in muscle fibres of patients with sporadic inclusion-body myositis
47. Autoantibody testing in patients with myositis: clinical accuracy of a multi parametric line immunoassay
48. T-cell anti-apoptotic mechanisms in inflammatory myopathies
49. Acute Sarcomeric M-Line Disease Associated With ATP Synthase Subunit α Autoantibodies in Ankylosing Spondylitis
50. Over Expression of NOS2 in Ragged-red Fibers from Patients with Mitochondrial Disorders due to Mutations in mtDNA
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