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The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Zibold J, Lessard LER, Picard F, da Silva LG, Zadorozhna Y, Streichenberger N, Belotti E, Osseni A, Emerit A, Errazuriz-Cerda E, Michel-Calemard L, Menassa R, Coudert L, Wiessner M, Stucka R, Klopstock T, Simonetti F, Hutten S, Nonaka T, Hasegawa M, Strom TM, Bernard E, Ollagnon E, Urtizberea A, Dormann D, Petiot P, Schaeffer L, Senderek J, Leblanc P. Zibold J, et al. Among authors: schaeffer l. Brain. 2024 May 3;147(5):1768-1783. doi: 10.1093/brain/awad410. Brain. 2024. PMID: 38079474 Free PMC article.
Muscle histone deacetylase 4 upregulation in amyotrophic lateral sclerosis: potential role in reinnervation ability and disease progression.
Bruneteau G, Simonet T, Bauché S, Mandjee N, Malfatti E, Girard E, Tanguy ML, Behin A, Khiami F, Sariali E, Hell-Remy C, Salachas F, Pradat PF, Fournier E, Lacomblez L, Koenig J, Romero NB, Fontaine B, Meininger V, Schaeffer L, Hantaï D. Bruneteau G, et al. Among authors: schaeffer l. Brain. 2013 Aug;136(Pt 8):2359-68. doi: 10.1093/brain/awt164. Epub 2013 Jul 3. Brain. 2013. PMID: 23824486
Antibodies to clustered acetylcholine receptor: expanding the phenotype.
Devic P, Petiot P, Simonet T, Stojkovic T, Delmont E, Franques J, Magot A, Vial C, Lagrange E, Nicot AS, Risson V, Eymard B, Schaeffer L. Devic P, et al. Among authors: schaeffer l. Eur J Neurol. 2014;21(1):130-4. doi: 10.1111/ene.12270. Epub 2013 Sep 21. Eur J Neurol. 2014. PMID: 24112557
Phosphorylation of NBR1 by GSK3 modulates protein aggregation.
Nicot AS, Lo Verso F, Ratti F, Pilot-Storck F, Streichenberger N, Sandri M, Schaeffer L, Goillot E. Nicot AS, et al. Among authors: schaeffer l. Autophagy. 2014 Jun;10(6):1036-53. doi: 10.4161/auto.28479. Autophagy. 2014. PMID: 24879152 Free PMC article.
Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death.
Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P. Jacquier A, et al. Among authors: schaeffer l. Acta Neuropathol Commun. 2017 Jul 14;5(1):55. doi: 10.1186/s40478-017-0457-1. Acta Neuropathol Commun. 2017. PMID: 28709447 Free PMC article.
Cellular mechanisms responsible for cell-to-cell spreading of prions.
Vilette D, Courte J, Peyrin JM, Coudert L, Schaeffer L, Andréoletti O, Leblanc P. Vilette D, et al. Among authors: schaeffer l. Cell Mol Life Sci. 2018 Jul;75(14):2557-2574. doi: 10.1007/s00018-018-2823-y. Epub 2018 May 14. Cell Mol Life Sci. 2018. PMID: 29761205 Free PMC article. Review.
Lack of muscle mTOR kinase activity causes early onset myopathy and compromises whole-body homeostasis.
Zhang Q, Duplany A, Moncollin V, Mouradian S, Goillot E, Mazelin L, Gauthier K, Streichenberger N, Angleraux C, Chen J, Ding S, Schaeffer L, Gangloff YG. Zhang Q, et al. Among authors: schaeffer l. J Cachexia Sarcopenia Muscle. 2019 Feb;10(1):35-53. doi: 10.1002/jcsm.12336. Epub 2018 Nov 21. J Cachexia Sarcopenia Muscle. 2019. PMID: 30461220 Free PMC article.
353 results