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Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz-Laguna A, René F, Marcel C, Molgó J, Fontaine B, Krejci E, Nicole S. Stum M, et al. Hum Mol Genet. 2008 Oct 15;17(20):3166-79. doi: 10.1093/hmg/ddn213. Epub 2008 Jul 21. Hum Mol Genet. 2008. PMID: 18647752
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.
Bauché S, Boerio D, Davoine CS, Bernard V, Stum M, Bureau C, Fardeau M, Romero NB, Fontaine B, Koenig J, Hantaï D, Gueguen A, Fournier E, Eymard B, Nicole S. Bauché S, et al. Among authors: stum m. Neuromuscul Disord. 2013 Dec;23(12):998-1009. doi: 10.1016/j.nmd.2013.07.005. Epub 2013 Sep 4. Neuromuscul Disord. 2013. PMID: 24011702
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Pelletier V, et al. Among authors: stum m. Hum Mutat. 2007 Jan;28(1):81-91. doi: 10.1002/humu.20417. Hum Mutat. 2007. PMID: 16969763
Genetic analysis of Pycr1 and Pycr2 in mice.
Stum MG, Tadenev ALD, Seburn KL, Miers KE, Poon PP, McMaster CR, Robinson C, Kane C, Silva KA, Cliften PF, Sundberg JP, Reinholdt LG, John SWM, Burgess RW. Stum MG, et al. Genetics. 2021 May 17;218(1):iyab048. doi: 10.1093/genetics/iyab048. Genetics. 2021. PMID: 33734376 Free PMC article.
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG, Hill DP, Gobet C, Pipis M, Reilly MM, Jennings MJ, Horvath R, Bai Y, Shy ME, Alvarez-Castelao B, Schuman EM, Bogdanik LP, Storkebaum E, Burgess RW. Spaulding EL, et al. Among authors: stum mg. Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1. Science. 2021. PMID: 34516839 Free PMC article.
Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.
Niehues S, Bussmann J, Steffes G, Erdmann I, Köhrer C, Sun L, Wagner M, Schäfer K, Wang G, Koerdt SN, Stum M, Jaiswal S, RajBhandary UL, Thomas U, Aberle H, Burgess RW, Yang XL, Dieterich D, Storkebaum E. Niehues S, et al. Among authors: stum m. Nat Commun. 2015 Jul 3;6:7520. doi: 10.1038/ncomms8520. Nat Commun. 2015. PMID: 26138142 Free PMC article.
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