61 results on '"Laforet, Pascal"'
Search Results
2. Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry
3. Cardiac Outcomes in Adults With Mitochondrial Diseases
4. No effect of triheptanoin in patients with phosphofructokinase deficiency
5. Whole-body muscle MRI in McArdle disease
6. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group
7. Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
8. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
9. Home-based exercise in autoimmune myasthenia gravis: A randomized controlled trial
10. Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trial
11. The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy
12. Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies)
13. Resistant myasthenia gravis and rituximab: A monocentric retrospective study of 28 patients
14. Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III
15. Atrial flutter in myotonic dystrophy type 1: Patient characteristics and clinical outcome
16. Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Gene 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression
17. Urgences musculaires dans les myopathies métaboliques: la rhabdomyolyse
18. 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014
19. Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1
20. Muscle MRI findings in limb girdle muscular dystrophy type 2L
21. High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study
22. A Caribbean case of phosphoglycerate mutase deficiency: Relevance of forearm exercise test and electroneuromyography with long exercise test in the diagnosis strategy of rare muscle glycogenosis
23. Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations
24. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns
25. Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease
26. Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges
27. Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity
28. Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
29. 162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28–30 November 2008, Bussum, The Netherlands
30. Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: A case control study
31. Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia
32. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency
33. 254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022
34. Impact of loss of ambulation on right ventricular size in patients with neuromuscular disorders
35. Caractéristiques des fonctions motrices des adultes atteints de la forme tardive de la maladie de Pompe (systématique scoping review)
36. The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization
37. Clinical study of chronic pain in hereditary myopathies
38. Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data
39. 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands
40. Cas clinique 4 – France
41. Rhabdomyolyse et acidose lactique sévères secondaires à une mutation FDXL1
42. Un cas rare d’amylose AL systémique avec atteinte musculaire : un diagnostic trompeur
43. Diagnostic d’un pseudo-botulisme chez un patient atteint d’une amyotrophie spinale
44. Rhabdomyolyses en rapport avec des déficits de la bêta-oxydation. Apport du séquençage haut débit sur panels dédiés
45. 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France
46. Rigid spine syndrome revealing late-onset Pompe disease
47. Modafinil for the treatment of hypersomnia associated with myotonic muscular dystrophy in adults: A multicenter, prospective, randomized, double-blind, placebo-controlled, 4-week trial
48. Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease
49. 0224: Cardiac involvement in glycogen storage disease type III
50. 0457: Atrial flutter in myotonic dystrophy type 1: patient characteristics and clinical outcome
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