44 results on '"Delmiro, Aitor"'
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2. Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome
3. Non-Invasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield
4. Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
5. Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
6. Apoptosis-inducing factor deficiency induces tissue-specific alterations in autophagy: insights from a preclinical model of mitochondrial disease and exercise training effects
7. Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
8. High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome
9. A crowdsourcing database for the copy-number variation of the spanish population
10. Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
11. High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome.
12. Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects
13. Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects
14. Plasma LDH: A specific biomarker for lung affectation in COVID-19?
15. Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study
16. Plasma LDH: A specific biomarker for lung affectation in COVID-19?
17. Soluble fms-like tyrosine kinase-1: a potential early predictor of respiratory failure in COVID-19 patients
18. Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox–Gastaut Syndrome
19. Exercise Benefits in Chronic Graft versus Host Disease: A Murine Model Study
20. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities
21. Recomendaciones para la elaboración de informes genéticos de diagnóstico en el ámbito asistencial
22. The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I
23. Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield
24. Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders
25. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome
26. iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis
27. The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I.
28. Exercise training can induce cardiac autophagy at end-stage chronic conditions: Insights from a graft-versus-host-disease mouse model
29. COX7A2L is a mitochondrial complex III-binding protein that stabilizes the III2+IV supercomplex without affecting respirasome formation
30. A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis
31. Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders
32. COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation
33. Utility of Exome Sequencing in A Familial Trio as A Diagnostic Tool in Cardiomyopathies
34. A novel RRM2B gene variant associated with Telbivudine-induced mitochondrial myopathy
35. iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis
36. Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion
37. Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease
38. Whole-Exome Sequencing Identifies a Variant of the MitochondrialMT-ND1Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome
39. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome
40. SEVERE TK2 ENZYME ACTIVITY DEFICIENCY IN PATIENTS WITH MILD FORMS OF MYOPATHY.
41. Abnormalities in Mitochondrial DNA Copy Number Have Pathogenetic and Prognostic Implications in Multiple Myeloma
42. Abnormalities in Mitochondrial DNA Copy Number Have Pathogenetic and Prognostic Implications in Multiple Myeloma
43. Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects
44. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
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