351 results on '"Fournier, Emmanuel"'
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2. Foreword to the French Edition
3. Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes
4. Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study
5. Tentations de l'éthique : Petit traité de la bien-maltraitance, suivi de 'Dire mourir'
6. Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ
7. New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
8. Clinical electrophysiology of muscle diseases and episodic muscle disorders
9. 4 h versus 1 h-nap-video-EEG monitoring in an Epileptology Unit
10. Guillain-Barré Syndrome outbreak associated with Zika virus infection in French Polynesia: a case-control study
11. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
12. Older patients with COVID‐19 and neuropsychiatric conditions: A study of risk factors for mortality
13. La pathologie revisitée par les canaux
14. Syndromes myasthéniques congénitaux — L’expérience française
15. Être à être : précédé de Lettre aux inexistants
16. Physiological and ultrastructural features of human induced pluripotent and embryonic stem cell-derived skeletal myocytes in vitro
17. A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs
18. Phenotypical variability and atypical presentations in a French cohort of Andersen–Tawil syndrome
19. Joseph A. Schumpeter (1883-1950)
20. Peripheral neuropathy in glycogen storage disease type III: Fact or myth?
21. Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patients With Neonatal Diabetes Owing to Potassium Channel Mutations
22. Underperception of Naps in Older Adults Referred for a Sleep Assessment: An Insomnia Trait and a Cognitive Problem?
23. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease
24. Innover peut-il s’interdire de transgresser ?
25. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
26. Chronic inflammatory demyelinating polyradiculoneuropathy: search for factors associated with treatment dependence or successful withdrawal
27. IS TOTAL DURATION OF DISTAL COMPOUND MUSCLE ACTION POTENTIAL BETTER THAN NEGATIVE PEAK DURATION IN THE DIAGNOSIS OF CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY?
28. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function
29. Hypokalemic periodic paralysis: A model for a clinical and research approach to a rare disorder
30. Development of the excitation-contraction coupling machinery and its relation to myofibrillogenesis in human iPSC-derived skeletal myocytes
31. SENSORY CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY: AN UNDER-RECOGNIZED ENTITY?
32. Transcranial magnetic stimulation as an efficient treatment for psychogenic movement disorders
33. Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression
34. L’universel à l’épreuve du droit
35. Electrophysiological diagnosis of motor neuron disease and pure motor neuropathy
36. Role of tyrosine residues and protein interaction domains of SHC adaptor in VEGF Receptor 3 signaling
37. Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome
38. Motor chronic inflammatory demyelinating polyneuropathy (CIDP) in 17 patients: Clinical characteristics, electrophysiological study, and response to treatment
39. Natural History of Type 2 and 3 Spinal Muscular Atrophy (SMA): Longitudinal 2-year NatHis-SMA Study (530)
40. Brody myopathy demonstrates a pseudo‐increment on repetitive nerve stimulation
41. HOMOZYGOSITY FOR DOMINANT MUTATIONS INCREASES SEVERITY OF MUSCLE CHANNELOPATHIES
42. A current view of the diagnosis, clinical variants, response to treatment and prognosis of chronic inflammatory demyelinating polyradiculoneuropathy
43. Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia
44. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease.
45. Lewis-Sumner Syndrome and Tangier Disease
46. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders
47. Corticosteroid-exacerbated symptoms in an Andersenʼs syndrome kindred
48. In vivo and in vitro functional characterization of Andersenʼs syndrome mutations
49. Electrophysiological recording of deep tendon reflexes: normative data in children and in adults
50. MUSK, a new target for mutations causing congenital myasthenic syndrome
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