44 results on '"Garcia‐Arumi, Elena"'
Search Results
2. An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants
3. Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia
4. Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria
5. Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress
6. Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)
7. Distal hereditary motor neuropathy due to a novelYARS1gene pathogenic variant
8. Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene
9. X-InDels efficacy evaluation in a critical samples paternity case: A Spanish Civil War case from the memorial of the camposines (Tarragona, Spain)
10. Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis
11. Chronic psychosocial stress induces reversible mitochondrial damage and corticotropin-releasing factor receptor type-1 upregulation in the rat intestine and IBS-like gut dysfunction
12. Concomitant apolipoprotein A-IV and citrulline plasma changes during short-term parenteral nutrition in surgical patients
13. Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.
14. Therapy Prospects for Mitochondrial DNA Maintenance Disorders
15. Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function
16. Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency
17. Leigh syndrome associated with TRMU gene mutations
18. Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease
19. Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene.
20. Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: Should all sporadic ALS cases also be screened for SOD1?
21. Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome
22. Measurements of the Antioxidant Enzyme Activities of Superoxide Dismutase, Catalase, and Glutathione Peroxidase
23. Expression of the Muscle Glycogen Phosphorylase Gene in Patients With McArdle Disease: The Role of Nonsense-Mediated mRNA Decay
24. TH-133. Spectrum disorder in RFC1 expansions/CANVAS: Clinical and electrophysiological characterization in a group of patients
25. A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance
26. Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report
27. Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants
28. Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants – Response
29. Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies
30. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
31. Cystic fibrosis diagnosis in adulthood as a result of study of relatives within the newborn screening programme
32. A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease
33. Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome
34. Leigh Syndrome and the Mitochondrial m.13513G>A Mutation
35. Quality assessment of human mitochondrial DNA quantification: MITONAUTS, an international multicentre survey
36. Enhanced ROS production and antioxidant defenses in cybrids harbouring mutations in mtDNA
37. Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA
38. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene
39. Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease
40. A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS
41. Oxidative stress induces age-dependent changes in lymphocyte protein synthesis and second messenger levels
42. Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.
43. Analysis of the Cu/Zn Gene in a Catalan ALS Population. Should All Sporadic ALS Cases Also Be Screened for SOD1?
44. Leigh syndrome associated with TRMU gene mutations.
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