420 results on '"Rivier, François"'
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2. The 2023 version of the gene table of neuromuscular disorders (nuclear genome)
3. Monocentric retrospective clinical outcome in a group of 13 patients with opsoclonus myoclonus syndrome, proposal of diagnostic algorithm and review of the literature
4. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
5. Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy
6. Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy
7. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
8. The 2022 version of the gene table of neuromuscular disorders (nuclear genome)
9. Epidemiological Study of Pediatric Neuromuscular Disorders in South West France Regions
10. The Hexokinase 1 5′-UTR Mutation in Charcot–Marie–Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering
11. Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress
12. Efficacy of intravenous clonazepam for paediatric convulsive status epilepticus.
13. Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathy.
14. Effect of beta-Dystroglycan Processing on Utrophin / DP116 Anchorage in Normal and MDX Mouse Schwann Cell Membrane
15. Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
16. The 2018 version of the gene table of monogenic neuromuscular disorders (nuclear genome)
17. Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study
18. Long‐term outcomes of paediatric Guillain–Barré syndrome.
19. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
20. AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
21. New insights intoCC2D2A-related Joubert syndrome
22. CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56
23. Cerebral sinovenous thrombosis associated with head/neck infection in children: Clues for improved management
24. Dendronized oligoethylene glycols with phosphonate tweezers for cell-repellent coating of oxide surfaces: Coarse-scale and nanoscopic interfacial forces
25. Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy.
26. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies:a large international cohort
27. Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population
28. Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy
29. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
30. Assessment of left ventricular dyssynchrony by speckle tracking echocardiography in children with duchenne muscular dystrophy
31. Cerebral sinovenous thrombosis associated with head/neck infection in children: Clues for improved management.
32. Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients
33. High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
34. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
35. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data
36. Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability
37. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
38. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
39. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome
40. Reading Comprehension Impairment in Children With Neurofibromatosis Type 1 (NF1): The Need of Multimodal Assessment of Attention
41. The 2021 version of the gene table of neuromuscular disorders (nuclear genome)
42. Generation of three Duchenne Muscular Dystrophy patient-specific induced pluripotent stem cell lines DMD_YoTaz_PhyMedEXp, DMD_RaPer_PhyMedEXp, DMD_OuMen_PhyMedEXp (INSRMi008-A, INSRMi009-A and INSRMi010-A)
43. Dystrophin-associated Proteins in Obliquely Striated Muscle of the Leech bfseries Pontobdella Muricata (Annelida, Hirudinea)
44. Deleterious mutations in exon 1 of MECP2 in Rett syndrome
45. E2F transcription factor-1 deficiency reduces pathophysiology in the mouse model of Duchenne muscular dystrophy through increased muscle oxidative metabolism
46. Presence of Invertebrate Dystrophin-like Products in Obliquely Striated Muscle of the Leech, Pontobdella muricata (Annelida, Hirudinea)
47. Dystrophin and Utrophin Complexed with Different Associated Proteins in Cardiac Purkinje Fibres
48. Utrophin and dystrophin-associated glycoproteins in normal and dystrophin deficient cardiac muscle
49. Prevalence and timing of pregnancy termination for brain malformations
50. Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
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