304 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. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
5. 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. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
8. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
9. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
10. Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report
11. Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome
12. Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study
13. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients
14. Survey on the management of Pompe disease in routine clinical practice in Spain
15. Electrocardiogram Changes in the Spectrum of TTNtv Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification
16. Prevalence of Steinert's Myotonic Dystrophy and Utilization of Healthcare Services: A Population-Based Cross-Sectional Study.
17. Clinical and Genetic Analysis of Patients With TK2 Deficiency.
18. Autoantibody screening in Guillain–Barré syndrome
19. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
20. Association of Initial Maximal Motor Ability with Long-term Functional Outcome in Patients with COL6-related Dystrophies
21. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations
22. Expanding the phenotypic spectrum ofTRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
23. Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies
24. Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations
25. Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort
26. Myosin post-translational modifications and function in the presence of myopathy-linked truncating MYH2 mutations
27. 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
28. Tarjeta de emergencias médicas para la enfermedad de Steinert: una necesidad desatendida
29. A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
30. Late-onset thymidine kinase 2 deficiency: a review of 18 cases
31. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
32. High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome
33. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
34. Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
35. Genotype-phenotype correlations in valosin-containing protein disease
36. A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness
37. Adult‐onset nemaline myopathy due to a novel homozygous variant in theTNNT1gene
38. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
39. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
40. Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis
41. Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2
42. Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
43. High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome.
44. Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies
45. BNIP3 is involved in muscle fiber atrophy in late-onset Pompe disease patients
46. Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations
47. Efectos cardiovasculares de la mexiletina para el tratamiento de la miotonía en la distrofia miotónica tipo 1
48. Cardiovascular effects of mexiletine for treatment of myotonia in myotonic dystrophy type 1
49. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
50. Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders
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