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454 results

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Page 1
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG. Donkervoort S, et al. Among authors: stojkovic t. Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691. Hum Mutat. 2015. PMID: 25204870 Free PMC article.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V. Briñas L, et al. Among authors: stojkovic t. Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087. Ann Neurol. 2010. PMID: 20976770
ColVI myopathies: where do we stand, where do we go?
Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G. Allamand V, et al. Among authors: stojkovic t. Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30. Skelet Muscle. 2011. PMID: 21943391 Free PMC article.
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST. O'Grady GL, et al. Among authors: stojkovic t. Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745833 Free PMC article.
Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy.
Richard P, Trollet C, Stojkovic T, de Becdelievre A, Perie S, Pouget J, Eymard B; Neurologists of French Neuromuscular Reference Centers CORNEMUS and FILNEMUS. Richard P, et al. Among authors: stojkovic t. Neurology. 2017 Jan 24;88(4):359-365. doi: 10.1212/WNL.0000000000003554. Epub 2016 Dec 23. Neurology. 2017. PMID: 28011929 Free PMC article.
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.
Mohassel P, Landon-Cardinal O, Foley AR, Donkervoort S, Pak KS, Wahl C, Shebert RT, Harper A, Fequiere P, Meriggioli M, Toro C, Drachman D, Allenbach Y, Benveniste O, Béhin A, Eymard B, Lafôret P, Stojkovic T, Mammen AL, Bönnemann CG. Mohassel P, et al. Among authors: stojkovic t. Neurol Neuroimmunol Neuroinflamm. 2018 Dec 12;6(1):e523. doi: 10.1212/NXI.0000000000000523. eCollection 2019 Jan. Neurol Neuroimmunol Neuroinflamm. 2018. PMID: 30588482 Free PMC article.
A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.
Perrin A, Metay C, Villanova M, Carlier RY, Pegoraro E, Juntas Morales R, Stojkovic T, Richard I, Richard P, Romero NB, Granzier H, Koenig M, Malfatti E, Cossée M. Perrin A, et al. Among authors: stojkovic t. Ann Clin Transl Neurol. 2020 May;7(5):846-854. doi: 10.1002/acn3.51031. Epub 2020 Apr 19. Ann Clin Transl Neurol. 2020. PMID: 32307885 Free PMC article.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. Foley AR, et al. Among authors: stojkovic t. Ann Neurol. 2020 Aug;88(2):332-347. doi: 10.1002/ana.25772. Epub 2020 Jun 18. Ann Neurol. 2020. PMID: 32403198 Free PMC article.
454 results