952 results on '"Spinazzi, A"'
Search Results
2. Phenotype variability and natural history of X-linked myopathy with excessive autophagy
3. Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers
4. Facing death: a multidisciplinary analysis of a Romano-Egyptian mummy mask at the Ny Carlsberg Glyptotek, Copenhagen
5. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
6. Autism Spectrum Disorder in Down Syndrome: Experiences from Caregivers
7. Facing death: a multidisciplinary analysis of a Romano-Egyptian mummy mask at the Ny Carlsberg Glyptotek, Copenhagen
8. Correction: Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis
9. Healthcare experiences of patients with Down syndrome who are Black, African American, of African descent, or of mixed race.
10. Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study
11. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
12. Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder
13. Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder
14. Co-occurring conditions in children with Down syndrome and autism: a retrospective study
15. Local mitochondrial replication in the periphery of neurons requires the eEF1A1 protein and thetranslation of nuclear-encoded proteins
16. Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder
17. Immunotherapy responsiveness and risk of relapse in Down syndrome regression disorder
18. Local mitochondrial replication in the periphery of neurons requires the eEF1A1 protein and the translation of nuclear-encoded proteins
19. Progressive microvascular failure in acute ischemic stroke: A systematic review, meta-analysis, and time-course analysis
20. Anti-SARS-CoV-2 (COVID-19) vaccination efficacy in patients with severe neuromuscular diseases
21. Co-occurring conditions in children with Down syndrome and autism: a retrospective study
22. Safety of Lumason® (SonoVue®) in special populations and critically ill patients
23. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study
24. No-Reflow Post-Recanalization in Acute Ischemic Stroke: Mechanisms, Measurements, and Molecular Markers
25. Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis
26. Chronic convection-enhanced delivery of topotecan for patients with recurrent glioblastoma: a first-in-patient, single-centre, single-arm, phase 1b trial
27. Cardiac Outcomes in Adults With Mitochondrial Diseases
28. A Wireless, Mechanically Flexible, 25μm-Thick, 65, 536-Channel Subdural Surface Recording and Stimulating Microelectrode Array with Integrated Antennas.
29. Preliminary remarks on some wear traces on Egyptian and Levantine textile tools
30. Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
31. Acute Stroke Following Carotid Endarterectomy: Approach and Strategy
32. MITOCHONDRIAL DEFECTS IN THE PARL-DEFICIENT MOUSE MODEL LEAD TO ARRESTED SPERMATOGENESIS AND FERROPTOSIS
33. Abstract 102: Microanatomy of Intracranial Human Thrombi by Single Nuclei Transcriptomics
34. An immune response characterizes early Alzheimer’s disease pathology and subjective cognitive impairment in hydrocephalus biopsies
35. Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
36. Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion
37. Deconvolution of cell type-specific drug responses in human tumor tissue with single-cell RNA-seq
38. Focused ultrasound mediated blood–brain barrier opening is safe and feasible in a murine pontine glioma model
39. Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
40. Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits
41. Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available
42. Progressive microvascular failure in acute ischemic stroke: A systematic review, meta-analysis, and time-course analysis
43. Flax for seed or fibre use? Flax capsules from ancient Egyptian sites (3rd millennium BC to second century AD) compared with modern flax genebank accessions
44. PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome
45. Deconvolution of cell type-specific drug responses in human tumor tissue with single-cell RNA-seq
46. An immune response characterizes early Alzheimer’s disease pathology and subjective cognitive impairment in hydrocephalus biopsies
47. Focused ultrasound mediated blood–brain barrier opening is safe and feasible in a murine pontine glioma model
48. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study
49. Impact of venous thromboembolism during admission for meningioma surgery on hospital charges and postoperative complications
50. Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders
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