181 results on '"Meneri, Megi"'
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2. Shaping the Neurovascular Unit Exploiting Human Brain Organoids
3. A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
4. Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
5. NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
6. Respiratory function in a large cohort of treatment-naïve adult spinal muscular atrophy patients: a cross-sectional study
7. Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis
8. Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study
9. Correction to: Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis
10. Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
11. Six‐minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.
12. 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
13. Unleashing the potential of mRNA therapeutics for inherited neurological diseases
14. Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.
15. Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes
16. Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family
17. Lafora Disease: A Case Report and Evolving Treatment Advancements
18. Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Woman and Cutting-Edge Advancements in the Field
19. The impact of upper motor neuron involvement on clinical features, disease progression and prognosis in amyotrophic lateral sclerosis
20. Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy
21. Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature
22. Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene
23. Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study
24. Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples
25. Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis
26. Advancing Stroke Research on Cerebral Thrombi with Omic Technologies
27. Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects
28. Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
29. Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease
30. Correlation between clinical phenotype and electromyographic parameters in amyotrophic lateral sclerosis
31. New Insights into Cerebral Vessel Disease Landscapes at Single-Cell Resolution: Pathogenetic and Therapeutic Perspectives
32. Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients.
33. Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions
34. Newly Diagnosed Hepatic Encephalopathy Presenting as Non-convulsive Status Epilepticus: A Case Report and Literature Review
35. NOTCH2NLC GCC repeats are not expanded in Italian Amyotrophic Lateral Sclerosis patients
36. Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets
37. Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
38. Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
39. 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
40. Clinical presentation, comorbidities and treatment of GAD antibodies associated stiff person syndrome
41. 6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen
42. Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family
43. Starting HIV therapy in patients with mitochondrial disease
44. Impact of COVID‐19 on the quality of life of patients with neuromuscular disorders in the L ombardy area, I taly
45. A biallelic variant in COX18cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
46. Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations
47. Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study
48. Primary mitochondrial myopathy
49. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
50. TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
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