Tanya Stojkovic
Docteur en médecine
Titres
- Docteur en médecine
- DU Neurophysiologie
- DU de Myologie
- Master 2 Neurosciences
Expertises
- Neurologie
- Neurophysiologie
- Maladies neuromusculaires
Présentation
- Spécialiste des maladies neuromusculaires
- Électromyographiste
- Thématiques d’intérêt : Neuropathies héréditaires, CMT, Myopathies rétractiles, COL6, alphadystroglycanopathies, dysferlinopathies, myasthénies congénitales
Principales publications
- Foley, AR, Zou, Y, Dunford, JE, Rooney, J, Chandra, G, Xiong, H et al.. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Ann Neurol. 2020;88 (2):332-347. doi: 10.1002/ana.25772. PubMed PMID:32403198 PubMed Central PMC7496979.
- Pareyson, D, Stojkovic, T, Reilly, MM, Leonard-Louis, S, Laurà, M, Blake, J et al.. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Ann Neurol. 2019;86 (1):55-67. doi: 10.1002/ana.25500. PubMed PMID:31070812 PubMed Central PMC6581441.
- Fayssoil, A, Stojkovic, T, Ogna, A, Laforet, P, Prigent, H, Lofaso, F et al.. Assessment of diaphragm motion using ultrasonography in a patient with facio-scapulo-humeral dystrophy: A case report. Medicine (Baltimore). 2019;98 (4):e13887. doi: 10.1097/MD.0000000000013887. PubMed PMID:30681553 PubMed Central PMC6358327.
- Bauché, S, Vellieux, G, Sternberg, D, Fontenille, MJ, De Bruyckere, E, Davoine, CS et al.. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. J Neurol. 2017;264 (8):1791-1803. doi: 10.1007/s00415-017-8569-x. PubMed PMID:28712002 .
- Deconinck, N, Richard, P, Allamand, V, Behin, A, Lafôret, P, Ferreiro, A et al.. Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. J Neurol Neurosurg Psychiatry. 2015;86 (12):1337-46. doi: 10.1136/jnnp-2013-307245. PubMed PMID:25535305 .
- Bombelli, F, Stojkovic, T, Dubourg, O, Echaniz-Laguna, A, Tardieu, S, Larcher, K et al.. Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features. JAMA Neurol. 2014;71 (8):1036-42. doi: 10.1001/jamaneurol.2014.629. PubMed PMID:24957169 .
- Echaniz-Laguna, A, Dubourg, O, Carlier, P, Carlier, RY, Sabouraud, P, Péréon, Y et al.. Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy. Neurology. 2014;82 (21):1919-26. doi: 10.1212/WNL.0000000000000450. PubMed PMID:24789864 .
- Eymard, B, Ferreiro, A, Ben Yaou, R, Stojkovic, T. Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy. Rev Neurol (Paris). 2013;169 (8-9):546-63. doi: 10.1016/j.neurol.2013.07.005. PubMed PMID:24021317 .
- Servais, L, Baudoin, H, Zehrouni, K, Richard, P, Sternberg, D, Fournier, E et al.. Pregnancy in congenital myasthenic syndrome. J Neurol. 2013;260 (3):815-9. doi: 10.1007/s00415-012-6709-x. PubMed PMID:23108489 .
- Bourteel, H, Vermersch, P, Cuisset, JM, Maurage, CA, Laforet, P, Richard, P et al.. Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. J Neurol Neurosurg Psychiatry. 2009;80 (12):1405-8. doi: 10.1136/jnnp.2007.141804. PubMed PMID:19917824 .
- Stojkovic, T, Vissing, J, Petit, F, Piraud, M, Orngreen, MC, Andersen, G et al.. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med. 2009;361 (4):425-7. doi: 10.1056/NEJMc0901158. PubMed PMID:19625727 .
- Yen, CM, Chen, ER. Detection of antibodies to Angiostrongylus cantonensis in serum and cerebrospinal fluid of patients with eosinophilic meningitis. Int J Parasitol. 1991;21 (1):17-21. doi: 10.1016/0020-7519(91)90116-o. PubMed PMID:2040566 .