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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.
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.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.
Schartner V, et al.
Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.
Acta Neuropathol. 2017.
PMID: 28012042
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Clinical, histological, and genetic characterization of PYROXD1-related myopathy.
Lornage X, Schartner V, Balbueno I, Biancalana V, Willis T, Echaniz-Laguna A, Scheidecker S, Quinlivan R, Fardeau M, Malfatti E, Lannes B, Sewry C, Romero NB, Laporte J, Böhm J.
Lornage X, et al. Among authors: schartner v.
Acta Neuropathol Commun. 2019 Aug 27;7(1):138. doi: 10.1186/s40478-019-0781-8.
Acta Neuropathol Commun. 2019.
PMID: 31455395
Free PMC article.
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Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies.
Schartner V, Laporte J, Böhm J.
Schartner V, et al.
J Neuromuscul Dis. 2019;6(3):289-305. doi: 10.3233/JND-180314.
J Neuromuscul Dis. 2019.
PMID: 31356215
Review.
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Peptides derived from the C-terminal domain of HIV-1 Viral Protein R in lipid bilayers: Structure, membrane positioning and gene delivery.
Marquette A, Leborgne C, Schartner V, Salnikov E, Bechinger B, Kichler A.
Marquette A, et al. Among authors: schartner v.
Biochim Biophys Acta Biomembr. 2020 Feb 1;1862(2):183149. doi: 10.1016/j.bbamem.2019.183149. Epub 2019 Dec 6.
Biochim Biophys Acta Biomembr. 2020.
PMID: 31816324
Free article.
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