136 results on '"Gallano, Pia"'
Search Results
2. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
3. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
4. Anoctamin 5 (ANO5) muscular dystrophy—three different phenotypes and a new histological pattern
5. Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
6. Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling
7. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
8. Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
9. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
10. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
11. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
12. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
13. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
14. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
15. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
16. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
17. Phenotypic variability in a Spanish family with a Caveolin-3 mutation
18. The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort
19. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease
20. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
21. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
22. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
23. Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
24. The phenotype and genotype of congenital myopathies based on a large pediatric cohort
25. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
26. Cylindrical spirals in two families: Clinical and genetic investigations
27. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
28. Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population
29. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
30. A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement
31. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease.
32. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
33. Genome and Chromosome Mutations Balance Between Appearance and Elimination
34. Disferlinopatía, una causa de falsa polimiositis refractaria
35. Dysferlinopathy masquerading as a refractory polymyositis
36. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
37. The proα2 (V) collagen gene (COL5A2) maps to 2q14→2q32, syntenic to the proα1 (III) collagen locus (COL3A1)
38. The organization of two related subfamilies of a human tandemly repeated DNA is chromosome specific
39. Utility of two SMN1variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling
40. LGMD2I in Spanish and Croatian Populations
41. Limb girdle muscular dystrophy 2I in Spanish and Croatian population
42. Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
43. Recomendaciones de buena práctica para el diagnóstico genético de las distrofias musculares de Duchenne y de Becker
44. Distrofia muscular por déficit de gsarcoglicano. aportación de tres pacientes con la mutación D-521T
45. Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
46. Adhalinopatía primaria (LGMD2D) de inicio en los primeros meses de la vida que simula una distrofia muscular congénita
47. Alteraciones en las proteínas funcionales. Déficit de calpaína 3
48. Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene
49. Three novel point mutations in the dystrophin gene in DMD patients
50. A novel insertional mutation of a single base in exon 12 of the dystrophin gene
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