166 results on '"Ciscato, Patrizia"'
Search Results
2. Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy
3. Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
4. Anti-HMGCR myopathy misdiagnosed as motor neuron disease and complicated with COVID-19 infection
5. Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
6. Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
7. Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy
8. Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
9. The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls
10. Lafora Disease: A Case Report and Evolving Treatment Advancements
11. Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene
12. Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.
13. Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
14. MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization
15. Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy
16. Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene
17. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients
18. Additional file 1 of Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy
19. Additional file 1 of Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
20. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
21. A biallelic variant in COX18cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
22. Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels
23. Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation
24. Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene
25. MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form
26. Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
27. A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy
28. Clinical, Molecular, and Protein Correlations in a Large Sample of Genetically Diagnosed Italian Limb Girdle Muscular Dystrophy Patients
29. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
30. Decorin and biglycan expression is differentially altered in several muscular dystrophies
31. Mutation Finding in Patients With Dysferlin Deficiency and Role of the Dysferlin Interacting Proteins Annexin A1 and A2 in Muscular Dystrophies
32. A new case of limb girdle muscular dystrophy 2g in a greek patient, founder effect and review of the literature
33. Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
34. Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature
35. A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature
36. Additional file 1: of ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases
37. ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases
38. Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation
39. Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia
40. The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment
41. Mitochondrial Changes in Platelets Are Not Related to Those in Skeletal Muscle during Human Septic Shock
42. Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.
43. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment
44. Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing
45. The m.12316G>A mutation in the mitochondrial tRNALeu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment
46. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
47. ?-enolase deficiency, a new metabolic myopathy of distal glycolysis
48. Novel CLN3 mutation causing autophagic vacuolar myopathy.
49. Anionic phospholipids calcium binding sites in Duchenne and murine X‐linked muscular dystrophy
50. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
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