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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
Confounding clinical presentation and different disease progression in CMT4B1
Guimaraes-Costa R, Villar-Quiles RN, Latour P, et al.
Neuromuscular disorders : NMD, 2020
Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder
Duchesne M, Danigo A, Richard L, et al.
Journal of neuropathology and experimental neurology, 2018, 77, 4, p 274
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1
Wahbi K, Babuty D, Probst V, et al.
European heart journal, 2017, 38, 10, p 751
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients
Guimaraes-Costa R, Iancu Ferfoglia R, Leonard-Louis S, et al.
European journal of neurology, 2017, 24, 3, p 530
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Bauché S, Vellieux G, Sternberg D, et al.
Journal of neurology, 2017, 264, 8, p 1791
Où l'étude électrophysiologique est d'un grand apport dans la démarche diagnostique : Where the electrophysiologic study is greatly useful in the diagnostic process
Lacour A, Bouche P
Lettre du neurologue Nerf et Muscle (La), 2017, 21, 7, p 202
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
Papadopoulos C, Orlikowski D, Prigent H, et al.
Molecular genetics and metabolism, 2017, 122, 1-2, p 80
Bent spine syndrome as the initial symptom of late-onset Pompe disease
Taisne N, Desnuelle C, Juntas Morales R, et al.
Muscle & Nerve, 2017, 56, 1, p 167
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
Deconinck N, Richard P, Allamand V, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 86, 12, p 1337
An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A
Attarian S, Vallat JM, Magy L, et al.
Orphanet journal of rare diseases, 2014, 9
HTLV-1-associated inflammatory myopathies: low proviral load and moderate inflammation in 13 patients from West Indies and West Africa
Desdouits M, Cassar O, Maisonobe T, et al.
Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology, 2013, 57, 1, p 70
MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1
Huin V, vasseur F, Schraen-Maschke S, et al.
Journal of neurology, 2013, 260, 4, p. 998-1003
Central nervous system abnormalities in patients with PMP22 gene mutations : a prospective study
Chanson JB, Echaniz-Laguna A, Blanc F, et al.
Journal of neurology, neurosurgery and psychiatry, 2013, 84, 4, p. 392-297
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease. : Registre Français de la maladie de Pompe. Caractérisation d'une cohorte de 126 patients adultes
Laforêt P, Laloui K, Granger B, et al.
Revue neurologique, 2013, 169, 8-9, p. 595
Maladie de Charcot-Marie-Tooth associée au gène de la périaxine (CMT4F) : description clinique, électrophysiologique et génétique de 24 patients
Renouil M, Stojkovic T, Jacquemont ML, et al.
Revue neurologique (Paris), 2013, 169, 8-9, p. 603-612
Clinical and electrophysiological characteristics of neuropathy associated with Tangier disease
Zyss J, Behin A, Couvert P, et al.
Journal of neurology, 2012, 259, 6, p 1222
Fat and carbohydrate metabolism during exercise in late-onset Pompe disease
Preisler N, Laforêt P, Madsen KL, et al.
Molecular genetics and metabolism, 2012, 107, 3, p. 462-468
Rituximab in refractory and non-refractory myasthenia: A retrospective multicenter study
Collongues N, Casez O, Lacour A, et al.
Muscle & Nerve, 2012, 46, 5, p. 687-691
Methionine synthase deficiency: A rare cause of adult-onset leukoencephalopathy
Outteryck O, de Seze J, Stojkovic T, et al.
Neurology, 2012, 79, 4, p 386
Deficit en maltase acide (glycogénose de type 2) de l'adulte. Une cause d'insuffisance respiratore à ne pas méconnaître
Perez T, Marie E, Lacour A, et al.
Revue des maladies respiratoires, 2012, 29, 1, p. 74-78
Rituximab : une nouvelle arme contre la myasthénie (Abstract)
Collongues N, Casez O, Lacour A, et al.
Congrès : Journées de Neurologie de Langue Française (26-29 avril 2011; Paris)
Lettre du neurologue (La), 2011, XV, Supplt N° 5, p. 6
Extra-ocular manifestations in dominant opticatrophy “plus” syndrome : three families with different time courses
Lacour A, Amati-Bonneau P, Reynier P, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 129
Evaluation de l'oxygénation musculaire à l'effort par la spectroscopie du proche infrarouge (NIRS) chez des patients porteurs de Dystrophie musculaire de Becker (poster)
Allart E, Olivier N, Lacour A, et al.
Congrès : IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers)
IXèmes journées annuelles de la Société Française de Myologie (SFM), 2011, poster T5, p. 33
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
Ben Ammar A, Petit F, Alexandri N, et al.
Journal of neurology, 2010, 257, 5, p 754
