96 results on '"Comi, Giacomo"'
Search Results
2. Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A
3. Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions
4. Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
5. A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
6. Telemedicine for cognitive impairment: a telephone survey of patients’ experiences with neurological video consultation
7. SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
8. Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
9. NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
10. Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
11. Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease
12. Inhibition of myostatin and related signaling pathways for the treatment of muscle atrophy in motor neuron diseases
13. Genetic modifiers of upper limb function in Duchenne muscular dystrophy
14. Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study
15. Clinical and genetic features of a cohort of patients with MFN2-related neuropathy
16. Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy
17. Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes
18. Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia
19. p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome
20. Clinical, neuroradiological and genetic findings in a cohort of patients with multiple Cerebral Cavernous Malformations
21. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
22. Spinal muscular atrophy: state of the art and new therapeutic strategies
23. A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
24. Animal Models of CMT2A: State-of-art and Therapeutic Implications
25. Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
26. Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic
27. Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers
28. Pediatric anti-HMGCR necrotizing myopathy: diagnostic challenges and literature review
29. The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease
30. Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives
31. Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1)
32. MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients
33. Molecular Approaches for the Treatment of Pompe Disease
34. Anti-MAG IgM: differences in antibody tests and correlation with clinical findings
35. Advances, Challenges, and Perspectives in Translational Stem Cell Therapy for Amyotrophic Lateral Sclerosis
36. Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art
37. Muscle pain in mitochondrial diseases: a picture from the Italian network
38. Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye
39. Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy
40. R-Loops in Motor Neuron Diseases
41. Secondary prevention of cryptogenic stroke in patients with patent foramen ovale: a systematic review and meta-analysis
42. MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors
43. Novel Lys215Asn mutation in an Italian family with Thomsen myotonia
44. Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy
45. Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown–Vialetto disease that is partially rescued by riboflavin
46. Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders
47. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients
48. Platelet mitochondrial dysfunction in critically ill patients: comparison between sepsis and cardiogenic shock
49. Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion
50. ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases
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