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Efficacy and safety of rituximab in myasthenia gravis: a French multicentre real-life study
Dos Santos A, Noury JB, Genestet S, et al.
European journal of neurology, 2020
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
Homozygous C-terminal loss-of-function Na(V)1.4 variant in a patient with congenital myasthenic syndrome
Echaniz-Laguna A, Biancalana V, Nadaj-Pakleza A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt P, Inoue M, Goillot E, et al.
Acta neuropathologica communications, 2019, 7, 1, p 167
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
Myasthénie auto-immune séronégative : Mise au point
Catar O, Aube-Nathier AC, Nadaj-Pakleza A
Les Cahiers de Myologie, 2017, 33, HS 1, p 34
La maladie de Steinert racontée par ceux qui la vivent... A propos de l'étude ASHAM
Hardy AC, Lecordier D, Perrot A, et al.
Les Cahiers de Myologie, 2017, 15, p.22-26
Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing : Déficit en myoadénulate désaminase : une cause fréquente de douleurs musculaires A propos d'un cas dépisté par épreuve d'effort
Lim L, Palayer M, Bruneau A, et al.
Annales de biologie clinique, 2017, 75, 4, p. 445
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
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa
Decostre V, Laforêt P, De Antonio M, et al.
Molecular genetics and metabolism, 2017, 122, 3, p 108
Analyse sociologique des habitudes de vie des adultes atteints de Dystrophie myotonique de type 1 ou maladie de Steinert : ASHAM
Hardy AC, Lecordier D, Perrot A, et al.
2016, 126 p
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms
Marey I, Ben Yaou R, Deburgrave N, et al.
Journal of Neuromuscular Diseases, 2016, 3, 2, p 227
Déficit proximal tardif des membres inférieurs : Comment orienter le diagnostic ?
Nadaj-Pakleza A
Neurologies, 2016, 19, 193, p 338
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III
Decostre V, Decostre V, Laforêt P, et al.
Neuromuscular disorders : NMD, 2016, 26, 9, p 584
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Dogan C, De Antonio M, Hamroun D, et al.
PLoS ONE, 2016, 11, 2
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases
Michon CC, Gargiulo M, Hahn-Barma V, et al.
Journal of inherited metabolic disease, 2015, 38, 3, p 573
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1
Tasca G, D'Amico A, Monforte M, et al.
Neuromuscular disorders : NMD, 2015, 25, 11, p 898
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study
Salort-Campana E, Nguyen K, Bernard R, et al.
Orphanet journal of rare diseases, 2015, 10
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Nectoux J, de Cid R, Baulande S, et al.
European journal of human genetics : EJHG, 2014, Epub
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1
Böhm J, Chevessier F, Koch C, et al.
Journal of medical genetics, 2014, 51, 12, p 824
Glycogenose type III :is there a specific cognitive profile ?
Michon CC, Nadaj-Pakleza A, Boneva N, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 126
Evaluation de l'apport diagnostique des anticorps ciblant les autophagosomes dans la maladie de Pompe (poster)
Dumez C, Nadaj-Pakleza A, Pénisson-Besnier I
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 M6, p. 50
Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy
Wary C, Nadaj-Pakleza A, Laforêt P, et al.
Neuromuscular disorders : NMD, 2010, 20, 8, p. 548-558
Oculopharyngeal muscular dystrophy : phenotypic and genotypic characteristics of 9 Polish patients
Nadaj-Pakleza A, Richard P, Lusakowska A, et al.
Neurologia i neurochirurgia polska, 2009, 43, 2, p. 113-120
Multi-minicore myopathy: a clinical and histopathological study of 17 cases
Nadaj-Pakleza A, Fidzianska A, Ryniewicz B, et al.
Folia neuropathologica, 2007, 45, 2, p. 56-65
