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The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. Dieterich K, et al. Among authors: faure j. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. Hum Mol Genet. 2013. PMID: 23236030
Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
Géraud J, Dieterich K, Rendu J, Uro Coste E, Dobrzynski M, Marcorelle P, Ioos C, Romero NB, Baudou E, Brocard J, Coville AC, Fauré J, Koenig M, Juntas Morales R, Lacène E, Madelaine A, Marty I, Pegeot H, Theze C, Siegfried A, Cossee M, Cances C. Géraud J, et al. Among authors: faure j. J Med Genet. 2021 Sep;58(9):602-608. doi: 10.1136/jmedgenet-2019-106714. Epub 2020 Sep 29. J Med Genet. 2021. PMID: 32994279 Free PMC article.
Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Seferian AM, Malfatti E, Bosson C, Pelletier L, Taytard J, Forin V, Gidaro T, Gargaun E, Carlier P, Fauré J, Romero NB, Rendu J, Servais L. Seferian AM, et al. Among authors: faure j. Neuromuscul Disord. 2016 Oct;26(10):712-716. doi: 10.1016/j.nmd.2016.07.011. Epub 2016 Jul 29. Neuromuscul Disord. 2016. PMID: 27528495 Free article.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F. Zaharieva IT, et al. Among authors: faure j. Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11. Hum Mutat. 2018. PMID: 30168660
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics; Amacher SL, Bamshad MJ. Chong JX, et al. Among authors: faure j. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707087 Free PMC article.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, Coppens S, Lubieniecki F, Bello AB, Laing N, Evangelista T, Laporte J, Böhm J, Romero NB. Labasse C, et al. Among authors: faure j. Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0. Acta Neuropathol Commun. 2022. PMID: 35810298 Free PMC article.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, Baets J, Neuhaus SB, Tanboon J, Maroofian R, Bolduc V, Mroczek M, Conijn S, Kuntz NL, Töpf A, Monges S, Lubieniecki F, McCarty RM, Chao KR, Governali S, Böhm J, Boonyapisit K, Malfatti E, Sangruchi T, Horkayne-Szakaly I, Hedberg-Oldfors C, Efthymiou S, Noguchi S, Djeddi S, Iida A, di Rosa G, Fiorillo C, Salpietro V, Darin N, Fauré J, Houlden H, Oldfors A, Nishino I, de Ridder W, Straub V, Pokrzywa W, Laporte J, Foley AR, Romero NB, Ottenheijm C, Hoppe T, Bönnemann CG. Donkervoort S, et al. Among authors: faure j. Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217308 Free PMC article.
1,289 results