395 results on '"Bartoli, Marc"'
Search Results
2. Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation
3. Knockdown of calpain1 in lumbar motoneurons reduces spasticity after spinal cord injury in adult rats
4. Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder
5. Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet
6. First characterization of congenital myasthenic syndrome type 5 in North Africa
7. Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
8. System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution
9. Editorial: Personalized medicine for neuromuscular disorders
10. Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
11. A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy
12. A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports
13. Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation.
14. A Novel Calmodulin-Binding Protein, Belonging to the WD-Repeat Family, Is Localized in Dendrites of a Subset of CNS Neurons
15. Dysferlin Exon 32 Skipping in Patient Cells
16. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
17. Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
18. Genetic Characterization of a French Cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing
19. Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.
20. Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
21. Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
22. Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care
23. Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
24. Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1
25. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy
26. Mechanisms of myostatin and activin A accumulation in chronic kidney disease
27. Identification of novel mutations by targeted next-generation sequencing in Moroccan families clinically diagnosed with a neuromuscular disorder
28. Commentary: Long-Term Exercise Reduces Formation of Tubular Aggregates and Promotes Maintenance of Ca2+ Entry Units in Aged Muscle
29. Chapitre 25 - Perspectives thérapeutiques en génétique médicale
30. The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte Functions
31. Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H
32. Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing
33. Autosomal dominant segregation of CAPN3 c.598_612del15 associated with a mild form of calpainopathy
34. Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype
35. EXOME SEQUENCING AS A SECOND-TIER DIAGNOSTIC APPROACH FOR CLINICALLY SUSPECTED DYSFERLINOPATHY PATIENTS
36. Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene
37. Novel phenotype in STIM1-related disorders including bones abnormalities and absence of immune defect
38. Translational Research and Therapeutic Perspectives in Dysferlinopathies
39. ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A
40. First Characterization of Congenital Myasthenic Syndrome Type 5 in North Africa
41. Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1
42. A novel bi‐allelic loss‐of‐function mutation in STIM1 expands the phenotype of STIM1 ‐related diseases
43. Contributors
44. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
45. Further heterogeneity in myopathy with tubular aggregates?
46. UMD-DYSF, A Novel Locus Specific Database for the Compilation and Interactive Analysis of Mutations in the Dysferlin Gene†
47. Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications
48. Refining NGS diagnosis of muscular disorders
49. Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay
50. Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy
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