Stojkovic T - Search Results

1

High intra-familiar clinical variability in MORC2 mutated CMT2 patients.

Semplicini C, Ollagnon-Roman E, Leonard-Louis S, Piguet-Lacroix G, Silvestre M, Latour P, Stojkovic T. Semplicini C, et al. Among authors: stojkovic t. Brain. 2017 Apr 1;140(4):e21. doi: 10.1093/brain/awx019. Brain. 2017. PMID: 28334961 No abstract available.

2

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.

Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P. Stojkovic T, et al. Neuromuscul Disord. 2004 Apr;14(4):261-4. doi: 10.1016/j.nmd.2004.01.003. Neuromuscul Disord. 2004. PMID: 15019704

3

SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.

Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I. Latour P, et al. Among authors: stojkovic t. J Peripher Nerv Syst. 2006 Jun;11(2):148-55. doi: 10.1111/j.1085-9489.2006.00080.x. J Peripher Nerv Syst. 2006. PMID: 16787513

4

A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.

Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P, Guicheney P. Bitoun M, et al. Among authors: stojkovic t. Neuromuscul Disord. 2008 Apr;18(4):334-8. doi: 10.1016/j.nmd.2008.01.005. Epub 2008 Apr 3. Neuromuscul Disord. 2008. PMID: 18394888

5

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T. Echaniz-Laguna A, et al. Among authors: stojkovic t. Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30. Neurology. 2014. PMID: 24789864

6

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

Bombelli F, Stojkovic T, Dubourg O, Echaniz-Laguna A, Tardieu S, Larcher K, Amati-Bonneau P, Latour P, Vignal O, Cazeneuve C, Brice A, Leguern E. Bombelli F, et al. Among authors: stojkovic t. JAMA Neurol. 2014 Aug;71(8):1036-42. doi: 10.1001/jamaneurol.2014.629. JAMA Neurol. 2014. PMID: 24957169 Review.

7

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Semplicini C, Vissing J, Dahlqvist JR, Stojkovic T, Bello L, Witting N, Duno M, Leturcq F, Bertolin C, D'Ambrosio P, Eymard B, Angelini C, Politano L, Laforêt P, Pegoraro E. Semplicini C, et al. Among authors: stojkovic t. Neurology. 2015 Apr 28;84(17):1772-81. doi: 10.1212/WNL.0000000000001519. Epub 2015 Apr 10. Neurology. 2015. PMID: 25862795 Free PMC article.

8

The Clinical Outcome Study for dysferlinopathy: An international multicenter study.

Harris E, Bladen CL, Mayhew A, James M, Bettinson K, Moore U, Smith FE, Rufibach L, Cnaan A, Bharucha-Goebel DX, Blamire AM, Bravver E, Carlier PG, Day JW, Díaz-Manera J, Eagle M, Grieben U, Harms M, Jones KJ, Lochmüller H, Mendell JR, Mori-Yoshimura M, Paradas C, Pegoraro E, Pestronk A, Salort-Campana E, Schreiber-Katz O, Semplicini C, Spuler S, Stojkovic T, Straub V, Takeda S, Rocha CT, Walter MC, Bushby K; Jain COS Consortium. Harris E, et al. Among authors: stojkovic t. Neurol Genet. 2016 Aug 4;2(4):e89. doi: 10.1212/NXG.0000000000000089. eCollection 2016 Aug. Neurol Genet. 2016. PMID: 27602406 Free PMC article.

9

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.

Echaniz-Laguna A, Geuens T, Petiot P, Péréon Y, Adriaenssens E, Haidar M, Capponi S, Maisonobe T, Fournier E, Dubourg O, Degos B, Salachas F, Lenglet T, Eymard B, Delmont E, Pouget J, Juntas Morales R, Goizet C, Latour P, Timmerman V, Stojkovic T. Echaniz-Laguna A, et al. Among authors: stojkovic t. Hum Mutat. 2017 May;38(5):556-568. doi: 10.1002/humu.23189. Epub 2017 Feb 25. Hum Mutat. 2017. PMID: 28144995

10

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Papadopoulos C, LaforÊt P, Nectoux J, Stojkovic T, Wahbi K, Carlier RY, Carlier PG, Leonard-Louis S, Leturcq F, Romero N, Eymard B, Behin A. Papadopoulos C, et al. Among authors: stojkovic t. Muscle Nerve. 2017 Dec;56(6):1096-1100. doi: 10.1002/mus.25608. Epub 2017 Apr 10. Muscle Nerve. 2017. PMID: 28187523

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