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Page 1
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV, Bauché S, Pérez-Guàrdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, Böhm J. Brande LV, et al. Among authors: chevessier f. Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111/nan.12952. Online ahead of print. Neuropathol Appl Neurobiol. 2023. PMID: 38124360
Corrigendum to 'Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model' [J Hepatol (2021) 1420-1433].
Yang T, Poenisch M, Khanal R, Hu Q, Dai Z, Li R, Song G, Yuan Q, Yao Q, Shen X, Taubert R, Engel B, Jaeckel E, Vogel A, Falk CS, Schambach A, Gerovska D, Araúzo-Bravo MJ, Vondran FWR, Cantz T, Horscroft N, Balakrishnan A, Chevessier F, Ott M, Sharma AD. Yang T, et al. Among authors: chevessier f. J Hepatol. 2022 Jul;77(1):270. doi: 10.1016/j.jhep.2022.03.023. Epub 2022 Apr 7. J Hepatol. 2022. PMID: 35397937 No abstract available.
Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model.
Yang T, Poenisch M, Khanal R, Hu Q, Dai Z, Li R, Song G, Yuan Q, Yao Q, Shen X, Taubert R, Engel B, Jaeckel E, Vogel A, Falk CS, Schambach A, Gerovska D, Araúzo-Bravo MJ, Vondran FWR, Cantz T, Horscroft N, Balakrishnan A, Chevessier F, Ott M, Sharma AD. Yang T, et al. Among authors: chevessier f. J Hepatol. 2021 Dec;75(6):1420-1433. doi: 10.1016/j.jhep.2021.08.011. Epub 2021 Aug 25. J Hepatol. 2021. PMID: 34453962 Free article.
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
Schuld J, Orfanos Z, Chevessier F, Eggers B, Heil L, Uszkoreit J, Unger A, Kirfel G, van der Ven PFM, Marcus K, Linke WA, Clemen CS, Schröder R, Fürst DO. Schuld J, et al. Among authors: chevessier f. Acta Neuropathol Commun. 2020 Sep 4;8(1):154. doi: 10.1186/s40478-020-01001-9. Acta Neuropathol Commun. 2020. PMID: 32887649 Free PMC article.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D. Molenaar JP, et al. Among authors: chevessier f. Brain. 2020 Feb 1;143(2):452-466. doi: 10.1093/brain/awz410. Brain. 2020. PMID: 32040565 Free PMC article.
Treadmill exercise intervention improves gait and postural control in alpha-synuclein mouse models without inducing cerebral autophagy.
Minakaki G, Canneva F, Chevessier F, Bode F, Menges S, Timotius IK, Kalinichenko LS, Meixner H, Müller CP, Eskofier BM, Casadei N, Riess O, Schröder R, Winkler J, Xiang W, von Hörsten S, Klucken J. Minakaki G, et al. Among authors: chevessier f. Behav Brain Res. 2019 May 2;363:199-215. doi: 10.1016/j.bbr.2018.11.035. Epub 2018 Dec 30. Behav Brain Res. 2019. PMID: 30599154
Imbalances in protein homeostasis caused by mutant desmin.
Winter L, Unger A, Berwanger C, Spörrer M, Türk M, Chevessier F, Strucksberg KH, Schlötzer-Schrehardt U, Wittig I, Goldmann WH, Marcus K, Linke WA, Clemen CS, Schröder R. Winter L, et al. Among authors: chevessier f. Neuropathol Appl Neurobiol. 2019 Aug;45(5):476-494. doi: 10.1111/nan.12516. Epub 2018 Sep 26. Neuropathol Appl Neurobiol. 2019. PMID: 30179276
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.
Böhm J, Lornage X, Chevessier F, Birck C, Zanotti S, Cudia P, Bulla M, Granger F, Bui MT, Sartori M, Schneider-Gold C, Malfatti E, Romero NB, Mora M, Laporte J. Böhm J, et al. Among authors: chevessier f. Acta Neuropathol. 2018 Jan;135(1):149-151. doi: 10.1007/s00401-017-1775-x. Epub 2017 Oct 16. Acta Neuropathol. 2018. PMID: 29039140 No abstract available.
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S. Bauché S, et al. Among authors: chevessier f. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002
Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.
Durmuş H, Ayhan Ö, Çırak S, Deymeer F, Parman Y, Franke A, Eiber N, Chevessier F, Schlötzer-Schrehardt U, Clemen CS, Hashemolhosseini S, Schröder R, Hemmrich-Stanisak G, Tolun A, Serdaroğlu-Oflazer P. Durmuş H, et al. Among authors: chevessier f. Neurology. 2016 Aug 23;87(8):799-805. doi: 10.1212/WNL.0000000000003004. Epub 2016 Jul 20. Neurology. 2016. PMID: 27440146
34 results