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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar-Quiles RN, Catervi F, Cabet E, et al.
Annals of neurology, 2019
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
Aragon-Gawinska K, Daron A, Ulinici A, et al.
Developmental medicine and child neurology, 2019
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
Ricotti V, Mandy WP, Scoto M, et al.
Developmental medicine and child neurology, 2015, Epub, p. 1-8
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
Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial
Seferian AM, Moraux A, Annoussamy M, et al.
PLoS ONE, 2015, 10, 2
Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial
Seferian AM, Moraux A, Canal A, et al.
PLoS ONE, 2015, 10, 4
Diagnostic approach to the congenital muscular dystrophies
Bonnemann CG, Wang CH, Quijano-Roy S, et al.
Neuromuscular disorders : NMD, 2014, 24, 4, p 289
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study
Voit T, Topaloglu H, Straub V, et al.
The Lancet. Neurology, 2014, 13, 10, p 987
Natural history of pulmonary function in collagen VI-related myopathies
Foley AR, Quijano-Roy S, Collins J, et al.
Brain, 2013, 136, 12, p. 3625-3633
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients
Servais L, Deconinck N, Moraux A, et al.
Neuromuscular disorders : NMD, 2013, 23, 2, p 139
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients
Servais L, Deconinck N, Moraux A, et al.
Neuromuscular disorders : NMD, 2012, 23, 2, p. 139-148
Consensus statement on standard of care for congenital muscular dystrophies
Wang CH, Bonnemann CG, Rutkowski A, et al.
Journal of child neurology, 2010, 25, 12, p 1559
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
Deconinck N, Dion E, Ben Yaou R, et al.
Neuromuscular disorders : NMD, 2010, 20, 8, p. 517-523
Ullrich Congenital Dystrophy and Bethlem Myopathy: Current Knowledge on the Clinical Spectrum, Pathogenesis, and Future Therapeutic Avenues of Collagen VI Related Muscular Dystrophies
Deconinck N, Stojkovic T
Curr Pediatr Rev, 2009, 5, p 28
Specific CT scanner muscle pattern helps to differentiate contractural lamin A/C and collagen VI related myopathies (Poster)
Collectif, Deconinck N, Dion E, et al.
Neuromuscular disorders : NMD, 2008, 18, 9-10, p. 774
Specific ct scanner muscle pattern helps to differentiate retractile lamin A/C and collagen VI related myopathies
Deconinck N, Dion E, Ferreiro A, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 265
Pathophysiology of Duchenne muscular dystrophy : current hypotheses
Deconinck N, Dan B
Pediatric neurology, 2007, 36, 1, p. 1-7
Functional evaluation of gene therapy in a mouse model of Duchenne muscular dystrophy
Deconinck N
Thèse de Médecine, 1998, 115 p
Expression of full-length utrophin prevents muscular dystrophy in mdx mice
Tinsley J, Deconinck N, Fisher R, et al.
Nature medicine, 1998, 4, 12, p. 1441-1444
Consequences of the combined deficiency in dystrophin and utrophin on the mechanical properties and myosin composition of some limb and respiratory muscles of the mouse
Deconinck N, Rafael JA, Beckers-Bleukx G, et al.
Congrès : 2nd International congress of the World Muscle Society (16-18 Octobre 1997; Tunis)
Neuromuscular disorders : NMD, 1998, 8, 6, p. 362-370
Expression of truncated utrophin improves pH recovery in exercising muscles of dystrophic mdx mice : a 31P NMR study
Goudemant JF, Deconinck N, Tinsley JM, et al.
Congrès : 2nd International congress of the World Muscle Society (16-18 Octobre 1997; Tunis)
Neuromuscular disorders : NMD, 1998, 8, 6, p. 371-379
Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents : myopathy myosin critical illness
Deconinck N, van Parijs V, Laterre PF, et al.
Congrès : 2nd International congress of the World Muscle Society (16-18 Octobre 1997; Tunis)
Neuromuscular disorders : NMD, 1997, 7, 6-7, p. 446
Expression of truncated utrophin leads to major functional improvements in dystrophin-deficient muscles of mice
Deconinck N, Tinsley J, Fisher R, et al.
Nature medicine, nov 97, 3, 11, p. 1216-1221
