116 results on '"Penisson-Besnier I"'
Search Results
2. The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease
3. Distal myopathies
4. Exercise Intolerance in Calpain Deficiency and in α-Sarcoglycanopathy
5. Traitement de la myasthénie auto-immune
6. Contraception and screening for cervical and breast cancer in neuromuscular disease: A retrospective study of 50 patients monitored at a clinical reference centre
7. Manifestations oculaires des maladies du muscle et de la jonction neuromusculaire
8. Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series
9. Dystrophie myotonique de type 2
10. La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec mutations du gène LMNA
11. Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay
12. Myopathies distales
13. Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype
14. Cervical Artery Dissections in the Puerperium: Pathogenic Hypotheses Concerning Seven Observations
15. Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme ®)
16. Current French Pompe Prevalence Study (French PoPS)
17. Extracranial and intracranial vertebrobasilar dissections: diagnosis and prognosis
18. Cytopathie mitochondriale en réanimation À propos d'un cas
19. [Management of muscle and nerve biopsies: expert guidelines from two French professional societies, Société française de myologie et de l'Association française contre les myopathies] : Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d'experts sous l'égide de la Société française de neuropathologie, de la Société française de myologie et de l'Association française contre les myopathies
20. G.P.281
21. Compound heterozygous mutations of the TNXB gene cause primary myopathy
22. Development and validation of a motor function classification in patients with neuromuscular disease: The NM-Score
23. Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms
24. Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing
25. Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series
26. Syndrome lymphoprolifératif cutané lié à l’EBV au cours d’une dermatomyosite traitée par immunosuppresseurs
27. Dehydroepiandrosterone for myotonic dystrophy type 1
28. I - 2 Manifestations musculaires du déficit en Acyl CoA déshydrogénase à très longue chaîne (VLCAD)
29. G.P.281: Detection of homozygous and compound heterozygous deletions in TRIM32 in LGMD patients analyzed by a combined strategy of CGH-array and Massive Parallel Sequencing
30. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
31. Autosomal dominant late adult onset distal myopathy
32. P.5.16 Predominant right ventricular involvement in patients with laminopathies
33. Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins
34. G.P.75 Variable phenotype of del45–55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation
35. P4.50 Results of prolonged follow-up of late-onset Pompe disease treated with alglucosidase alfa (Myozyme)
36. P2.37 Long term prognosis of congenital myasthenic syndromes (CMS): The French CMS network experience
37. P1.14 Overt myopathy in Ehlers–Danlos syndrome caused by tenascin-X deficiency: extending the clinical spectrum and refining the muscle pathology
38. Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements.
39. G.P.11.10 Partial genomic deletions of RAPSN account for 15% of congenital myasthenic syndrome after negative DNA sequencing
40. EM.P.4.02 Comprehensive clinical, cellular and molecular assessment of 64 French families with COL6-related muscle disorders: Clues for genotype/phenotype correlations
41. G.P.17.02 New c-terminal titin mutations in Europeans with tibial muscular dystrophy (TMD)
42. G.P.13.05 Valosin-containing protein gene mutations: Clinical and histopathologic features in a series of 16 patients
43. M.P.2.13 The French Pompe registry: A prospective clinical survey of patients with late onset Pompe disease in France
44. M.O.1 Muscular manifestations of very long-chain acyl-coenzyme A dehydrogenase deficiency: A clinical, and biochemical study in 12 patients
45. J - 15 Étude des troubles respiratoires chez 64 patients atteints de dystrophie myotonique de type 1
46. Autosomal dominant late adult onset distal leg myopathy
47. Extracranial and intracranial vertebrobasilar dissections: diagnosis and prognosis
48. Male infertility associated with multiple mitochondrial DNA rearrangements
49. G.P.8 04 TPM3 (Arg167His) autosomal dominant nemaline myopathy: variable clinical and histopathological phenotypes
50. P.P.5 08 A novel MTM1 mutation in a very old manifesting carrier of myotubular myopathy
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