195 results on '"E. Malfatti"'
Search Results
2. Miopatie congenite
3. CONGENITAL MYOPATHIES
4. FSHD
5. DMD - BIOMARKERS
6. METABOLIC MYOPATHIES
7. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES
8. MYASTHENIA & RELATED DISORDERS
9. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
10. Integrated analysis of the large-scale sequencing project 'Myocapture' to identify novel genes for myopathies
11. CONGENITAL MYOPATHIES: GENERAL AND RYR1
12. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
13. EP.133Biallelic mutations in Tenascin X, TNXB cause slowly progressive asymmetric myopathy with mild joint dislocations and connective tissue alterations
14. P.162Novel Kbtbd13R408C-knockin mouse model phenocopies NEM6 myopathy
15. O.19PAX7 deficiency causes mild congenital myopathy with rigid spine and respiratory insufficiency
16. POMPE DISEASE AND METABOLIC DISORDERS
17. P.09Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMGS)
18. Further insights in nemaline myopathy (NM) with hyaline masses
19. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
20. Clinics, histopathology and whole-body-MRI pattern in CACNA1S/DHPR myopathy
21. Autophagy impairment in muscle biopsies from debranching enzyme deficiency (GSDIII) patients: pinpointing novel therapeutic perspectives
22. CONGENITAL MYOPATHIES: GENERAL AND RYR1
23. INFLAMMATORY MYOPATHIES
24. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA
25. Myopathie axiale vacuolaire avec rigidité : une nouvelle entité reliée aux gammapathies monoclonales
26. CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
27. Clinical and histopathological characterization of the first French case of MATR3 -related distal myopathy
28. Highly variable ultrastructural findings in KBTBD13-nemaline myopathy (NEM6)
29. Recessive myopalladin mutations cause congenital cap myopathy with unusual rods
30. STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia
31. Thrombogenic Potential of Contrast Media in an Experimental Model of Laser-Induced Thrombosis
32. A novel neuromuscular form of glycogen storage disease type IV characterized by spinal stiffness, arthrogrypotic features, and rare polyglucosan bodies in muscle biopsy
33. Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies
34. ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings
35. Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis
36. G.O.2
37. MOLECULAR NEUROGENETICS OF MITOCHONDRIAL DISEASES
38. Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality
39. Novel histopathological phenotypes associated with TPM2 and TPM3-related congenital myopathies
40. G.P.268
41. G.P.269
42. G.P.264
43. G.P.38
44. P.9.7 Skeletal muscle biopsy reappraisal in nebulin-related nemaline myopathy
45. P.9.6 Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene
46. P.15.10 Megaconial myopathy presenting as a progressive limb-girdle myopathy
47. D.O.4 Next generation sequencing for genetic diagnosis and gene identification in myopathies
48. Cardiac Involvement Is a Major Cause of Morbidity and Mortality in Patients Harbouring the MT-TL1 3243A>G 'MELAS' Mutation (S55.003)
49. Predicting variables of successful total colonoscopy
50. Decisioni rinneganti (in: Dossier sulla giurisprudenza costituzionale, a cura di Giu. Serges – C. Tomba)
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