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Year | Number of Results |
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2013 | 2 |
2016 | 3 |
2024 | 0 |
PubMed for id: 349649
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Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence.
Prenat Diagn. 2016 Dec;36(12):1135-1138. doi: 10.1002/pd.4949. Epub 2016 Nov 18.
Prenat Diagn. 2016.
PMID: 27762439
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.
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.
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KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H.
Natera-de Benito D, et al.
J Neurol. 2016 Mar;263(3):517-23. doi: 10.1007/s00415-015-8015-x. Epub 2016 Jan 11.
J Neurol. 2016.
PMID: 26754003
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Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.
Ravenscroft G, et al.
Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.
Am J Hum Genet. 2013.
PMID: 23746549
Free PMC article.
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Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases.
Canning P, Cooper CDO, Krojer T, Murray JW, Pike ACW, Chaikuad A, Keates T, Thangaratnarajah C, Hojzan V, Marsden BD, Gileadi O, Knapp S, von Delft F, Bullock AN.
Canning P, et al.
J Biol Chem. 2013 Mar 15;288(11):7803-7814. doi: 10.1074/jbc.M112.437996. Epub 2013 Jan 24.
J Biol Chem. 2013.
PMID: 23349464
Free PMC article.
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