269 results on '"Tomelleri, Giuliano"'
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2. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes
3. A 5-year clinical follow-up study from the Italian National Registry for FSHD
4. Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
5. A novel in‐frame deletion in MYOT causes an early adult onset distal myopathy
6. Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy
7. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
8. Muscle biopsy features of idiopathic inflammatory myopathies and differential diagnosis
9. Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies
10. Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy
11. Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy
12. The role of mitochondria in neurodegenerative diseases
13. A Mutation in the CASQ1 Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein Aggregates
14. Systemic sclerosis and superficial siderosis of the central nervous system: casuality or causality?
15. Neuropathology of mitochondrial diseases
16. Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
17. Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation
18. Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)
19. Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease
20. Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
21. Overexpression of TNF-α in mitochondrial diseases caused by mutations in mtDNA: evidence for signaling through its receptors on mitochondria
22. Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases
23. Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling
24. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes
25. Non-Hematologic Toxicity of Bortezomib in Multiple Myeloma: The Neuromuscular and Cardiovascular Adverse Effects
26. A 5-year clinical follow-up study from the Italian National Registry for FSHD
27. Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy
28. A STANDARDIZED CLINICAL EVALUATION OF PATIENTS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY: THE FSHD CLINICAL SCORE
29. Brody Disease: Insights Into Biochemical Features of SERCA1 and Identification of a Novel Mutation
30. Current Options in the Treatment of Mitochondrial Diseases
31. Antisulfatide polyneuropathy: antibody-mediated complement attack on peripheral myelin
32. Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function
33. SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy
34. Human Skeletal Muscle as a Target Organ of Trichloroethylene Toxicity
35. Increased Expression of the Normal Cellular Isoform of Prion Protein in Inclusion-Body Myositis, Inflammatory Myopathies and Denervation Atrophy
36. Relapsing-remitting painful masses of the skeletal muscle
37. A Five-Year Longitudinal Study in Facioscapolohumeral Muscular Dystrophy: Assessment of Variables Influencing Disease Progression
38. Critical illness myopathy and neuropathy
39. The Italian LGMD registry: Relative frequency, clinical features, and differential diagnosis
40. T-cell anti-apoptotic mechanisms in inflammatory myopathies
41. Acute Sarcomeric M-Line Disease Associated With ATP Synthase Subunit α Autoantibodies in Ankylosing Spondylitis
42. Over Expression of NOS2 in Ragged-red Fibers from Patients with Mitochondrial Disorders due to Mutations in mtDNA
43. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
44. Identification and characterization of three novel mutations in theCASQ1gene in four patients with tubular aggregate myopathy
45. Bortezomib-Induced Muscle Toxicity in Multiple Myeloma
46. Immunoblot as a potential diagnostic tool for myofibrillar myopathies
47. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
48. Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry
49. Evidence for caspase-dependent programmed cell death along with repair processes in affected skeletal muscle fibres in patients with mitochondrial disorders
50. Endothelial dysfunction in mitochondrial diseases: biological and biochemical evidence of increased oxidative stress and peroxinitrite generation
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