Detalhe da pesquisa
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
2.
Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Eur J Neurol
; 31(7): e16292, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587143
3.
Systemic light chain amyloidosis myopathy responsive to daratumumab monotherapy.
Eur J Neurol
; 30(3): 745-748, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36403110
4.
Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic.
Eur J Neurol
; 29(4): 1181-1186, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927321
5.
Macroglossia: A potentially severe complication of late-onset Pompe disease.
Eur J Neurol
; 29(7): 2121-2128, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35302691
6.
Risk factors associated with myasthenia gravis in thymoma patients: The potential role of thymic germinal centers.
J Autoimmun
; 106: 102337, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31594658
7.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Orphanet J Rare Dis
; 19(1): 24, 2024 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38268028
8.
Effect of Intensity of Home Noninvasive Ventilation in Individuals With Neuromuscular and Chest Wall Disorders: A Systematic Review and Meta-Analysis of Individual Participant Data.
Arch Bronconeumol
; 59(8): 488-496, 2023 Aug.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-37217384
9.
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Neurology
; 101(9): e966-e977, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419682
10.
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Mol Genet Metab Rep
; 24: 100597, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32477874
11.
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
J Neuromuscul Dis
; 7(4): 443-451, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32925086
12.
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Acta Neuropathol Commun
; 7(1): 167, 2019 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31661040