271 results on '"Solé, Guilhem"'
Search Results
2. Phenotype variability and natural history of X-linked myopathy with excessive autophagy
3. Clinical and pathological aspects of toxic myopathies
4. Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients)
5. Usefulness of subcutaneous immunoglobulin therapy in the management of myasthenia gravis: a retrospective cohort study
6. Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments
7. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study
8. Peripheral neuropathy and livedoid vasculopathy
9. Neurologic manifestations of giant cell arteritis
10. Dystrophies musculaires des ceintures associées aux mutations de TRIM32 : cohorte française et revue de la littérature
11. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy
12. Acute peripheral neuropathy following animal envenomation: A case report and systematic review
13. The ataxic neuropathies
14. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
15. Olfaction and anosmia: From ancient times to COVID-19
16. New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software
17. Titin copy number variations associated with dominant inherited phenotypes.
18. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases
19. Titin copy number variations associated with dominant inherited phenotypes
20. Prognostic factor of poor outcome in anti-MAG neuropathy: clinical and electrophysiological analysis of a French Cohort
21. LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2
22. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
23. Clinical Neurology in Practice: The Tongue (part 2).
24. Clinical Neurology in Practice
25. History and current difficulties in classifying inherited myopathies and muscular dystrophies
26. Myopathy and scleromyxedema
27. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
28. Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia
29. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study
30. Titin copy number variations associated with dominant inherited phenotypes
31. Papilledema and Peripheral Neuropathies
32. À propos de 12 cas d’intoxication au protoxyde d’azote diagnostiqués au CHU de Bordeaux en 2021 : nécessité du dosage de l’homocystéine totale plasmatique, biomarqueur de la carence cellulaire en vitamine B12
33. Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
34. Pandémie et soutien aux malades neuromusculaires : et si on en reparlait ?
35. Chronic inflammatory demyelinating polyradiculoneuropathy‐causing myelopathy
36. Acute Brachial Radiculoplexopathy and Giant Cell Arteritis
37. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum
38. Macroglossia: A potentially severe complication of late‐onset Pompe disease
39. Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study.
40. A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations
41. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia
42. Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy
43. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
44. Deep phenotyping of an international series of patients with late‐onset dysferlinopathy
45. Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene: A Call for Family Screening and Pharmacovigilance
46. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families
47. Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis
48. Macroglossie chez les patients atteints de la maladie de Pompe de forme tardive : présentation de 5 cas
49. Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic.
50. The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
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