326 results on '"Domínguez-González, Cristina"'
Search Results
2. Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation
3. Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3
4. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
5. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
6. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
7. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
8. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
9. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
10. Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome
11. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study
12. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
13. Survey on the management of Pompe disease in routine clinical practice in Spain
14. Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naïve Early-Onset Anti-HMGCR Necrotizing Myopathy.
15. Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report
16. Electrocardiogram Changes in the Spectrum of TTNtv Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification
17. Autoantibody screening in Guillain–Barré syndrome
18. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
19. Prevalence of Steinert's Myotonic Dystrophy and Utilization of Healthcare Services: A Population-Based Cross-Sectional Study.
20. Clinical and Genetic Analysis of Patients With TK2 Deficiency.
21. Association of Initial Maximal Motor Ability with Long-term Functional Outcome in Patients with COL6-related Dystrophies
22. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations
23. Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations
24. Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
25. Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
26. Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort
27. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
28. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
29. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
30. Late-onset thymidine kinase 2 deficiency: a review of 18 cases
31. Reply: High‐dose oral glutamine can reduce cerebrospinal fluid glutamate in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes without a beneficial clinical or cerebral tissue effect
32. Tarjeta de emergencias médicas para la enfermedad de Steinert: una necesidad desatendida
33. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
34. A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
35. High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome
36. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
37. Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
38. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
39. Genotype-phenotype correlations in valosin-containing protein disease
40. A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness
41. Adult‐onset nemaline myopathy due to a novel homozygous variant in theTNNT1gene
42. Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
43. Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2
44. Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
45. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
46. Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
47. Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies
48. BNIP3 is involved in muscle fiber atrophy in late-onset Pompe disease patients
49. Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations
50. High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome.
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