718 results on '"Comi, Giacomo Pietro"'
Search Results
2. Verbal learning in frontal patients: area 9 is critical for employing semantic strategies
3. Shaping the Neurovascular Unit Exploiting Human Brain Organoids
4. Correction to: Verbal learning in frontal patients: area 9 is critical for employing semantic strategies
5. Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions
6. A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
7. Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
8. NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
9. Genomic and transcriptomic advances in amyotrophic lateral sclerosis
10. Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
11. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
12. TM6SF2/PNPLA3/MBOAT7 Loss-of-Function Genetic Variants Impact on NAFLD Development and Progression Both in Patients and in In Vitro Models
13. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial
14. Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
15. Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study
16. Clinical and genetic features of a cohort of patients with MFN2-related neuropathy
17. Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?
18. Charcot–Marie‐Tooth type 2A in vivo models: Current updates
19. Early spinal muscular atrophy treatment following newborn screening: A 20‐month review of the first Italian regional experience
20. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
21. Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations
22. Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases
23. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
24. Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy
25. COVID-19-related myopathy
26. Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic
27. Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
28. Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up
29. Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
30. Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis
31. Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy
32. Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers
33. Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes
34. Animal Models of CMT2A: State-of-art and Therapeutic Implications
35. Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives
36. Pediatric anti-HMGCR necrotizing myopathy: diagnostic challenges and literature review
37. Anti-MAG IgM: differences in antibody tests and correlation with clinical findings
38. Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family
39. Fibrosis Rescue Improves Cardiac Function in Dystrophin-Deficient Mice and Duchenne Patient–Specific Cardiomyocytes by Immunoproteasome Modulation
40. Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
41. The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls
42. Lafora Disease: A Case Report and Evolving Treatment Advancements
43. Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions
44. The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs
45. Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy
46. Muscle pain in mitochondrial diseases: a picture from the Italian network
47. Verbal learning impairment in Parkinson’s disease: role of the frontostriatal system in working and strategic memory
48. GABRB1‐related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation
49. Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
50. A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
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