Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, et al.
International Journal of molecular sciences, 2020, 21, 6
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Genotype-phenotype correlations in recessive titinopathies
Savarese M, Vihola A, Oates EC, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation
Masingue M, Arzel M, Sternberg D, et al.
Muscle & Nerve, 2020
Corticosteroids for the treatment of Duchenne muscular dystrophy
Matthews E, Brassington R, Kuntzer T, et al.
Cochrane Database of Systematic Reviews, 2016, 5
What is new in 2015 in dysimmune neuropathies? : Actes de colloque - 8th meeting of the Société Francophone du Nerf Périphérique
Kuntzer T
Revue neurologique, 2016, 172, 12, p 779
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
Maintien des capacités des myopathes ou l'art de prescrire l'exercice physique
Vuadens P, Kuntzer T, Mühl A
Revue médicale suisse, 2014, 10, 428, p. 958-961
Acetylcholinesterase inhibitor treatment for myasthenia gravis
Mehndiratta MM, Pandey S, Kuntzer T
Cochrane Database of Systematic Reviews, 2014, 10
Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative study
Antoine JC, Robert-Varvat F, Maisonobe T, et al.
Journal of neurology, 2014, 261, 11, p 2093
Assessing dystrophies and other muscle diseases at the nanometer scale by atomic force microscopy
van Zwieten RW, Puttini S, Lekka M, et al.
Nanomedicine, 2014, 9, 4, p. 393-406
Assessing dystrophies and other muscle diseases at the nanometer scale by atomic force microscopy
van Zwieten RW, Puttini S, Lekka M, et al.
Nanomedicine (London, England), 2014, 9, 4, p 393
Sporadic late-onset nemaline myopathy with MGUS : Long-term follow-up after melphalan and SCT
Voermans NC, Benveniste O, Minnema MC, et al.
Neurology, 2014, 83, 23, p 2133
Sweet taste loss in myasthenia gravis: more than a coincidence?
Chabwine JN, Tschirren MV, Zekeridou A, et al.
Orphanet journal of rare diseases, 2014, 9, 1, p. 50
Functional and histopathological identification of the respiratory failure in a DMSXL transgenic mouse model of myotonic dystrophy
Panaite PA, Kuntzer T, Gourdon G, et al.
Disease models and mechanisms, 2013, 6, 3, p. 622-631
Brody disease : further clinical description
Kuntzer T
Congrès : Xèmes Journées Annuelles de la Société française de Myologie (SFM) (14-16 novembre 2012; Grenoble (France))
2012, p.24
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study
Wahbi K, Behin A, Charron P, et al.
Neuromuscular disorders : NMD, 2012, 22, 3, p 211
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations
Wargon I, Richard P, Kuntzer T, et al.
Neuromuscular disorders : NMD, 2012, 22, 4, p. 318-324
Assessing the diagnosis and response to treatment of muscular diseases at the nanometer scale
Puttini S, van Zwieten R, Malgorzata L, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 87
Correlation genotype-phenotype in facioscapulo humeral muscular dystrophy (FSHD)with small deletion
Campana-Salort E, Nguyen K, Bernard R, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 157
Influence of environmental factors in facioscapulo humeral muscular dystrophy with small deletion (poster)
Salort-Campana E, Bernard R, Nguyen K, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 158
Impaired respiratory function in myotonic dystrophy transgenic mice carrying more than 1000 CTG repeats (poster)
Panaite PA, Gourdon G, Kuntzer T, 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 T9, p. 37
Unequivocal evidence for the presence of neuropathy in myotonic dystrophy transgenic mice expressing long CTG repeats
Panaite PA, Kielar M, Gourdon G, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 156
Marked hemiatrophy in carriers of Duchenne muscular dystrophy
Rajakulendran S, Kuntzer T, Dunand M, et al.
Archives of neurology, 2010, 67, 4, p. 497-500
Early onset collagen VI myopathies: genetic and clinical correlations
Brinas L, Richard P, Quijano-Roy S, et al.
Annals of neurology, 2010, 68, 4, p 511
