34 results on '"Gonzalez-Quereda, Lidia"'
Search Results
2. Chronic Cough and Cerebellar Ataxia With Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS): Screening for Mutations in Replication Factor C Subunit 1 (RFC1)
3. Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
4. 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
5. Anoctamin 5 (ANO5) muscular dystrophy—three different phenotypes and a new histological pattern
6. Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
7. Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
8. A new homozygous missense variant in LMOD3 gene causing mild nemaline myopathy with prominent facial weakness
9. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
10. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
11. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes
12. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
13. Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
14. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
15. Phenotypic variability in a Spanish family with a Caveolin-3 mutation
16. genetic diagnosis; limb-girdle weakness; neuromuscular disease; next-generation sequencing; targeted exome analysisweakness
17. Special Issue “Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy”
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. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
21. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
22. Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
23. Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients
24. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
25. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
26. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies
27. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
28. Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease.
29. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
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. Anti-rh-GAA antibodies does not influence late onset Pompe disease progression
32. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
33. Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy
34. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
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