| 1 | CFTD2, SEPN1
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| SEPN1-related myopathies: clinical course in a large cohort of patients.
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| Scoto M, Cirak S, Mein R, Feng L, Manzur AY, Robb S, Childs AM, Quinlivan RM, Roper H, Jones DH, Longman C, Chow G, Pane M, Main M, Hanna MG, Bushby K, Sewry C, Abbs S, Mercuri E, Muntoni F.
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| Neurology 76(24):2073-8.
2011
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| 2 | CFTD2, SEPN1
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| New molecular findings in congenital myopathies due to selenoprotein N gene mutations.
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| Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, Prelle A, Riva S, Napoli L, Gorni K, Orcesi S, Lamperti C, Pichiecchio A, Signaroldi E, Tupler R, Magri F, Govoni A, Corti S, Bresolin N, Moggio M, Comi GP.
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| J Neurol Sci 300(1-2):107-13.
2011
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| 3 | SEPN1
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| Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.
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| Castets P, Maugenre S, Gartioux C, Rederstorff M, Krol A, Lescure A, Tajbakhsh S, Allamand V, Guicheney P.
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| BMC Dev Biol 9:46.
2009
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| 4 | SEPN1
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| Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment.
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| Arbogast S, Beuvin M, Fraysse B, Zhou H, Muntoni F, Ferreiro A.
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| Ann Neurol 65(6):677-86.
2009
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| 5 | RYR1, SEPN1
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| Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle.
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| Jurynec MJ, Xia R, Mackrill JJ, Gunther D, Crawford T, Flanigan KM, Abramson JJ, Howard MT, Grunwald DJ.
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| Proc Natl Acad Sci U S A 105(34):12485-90. Epub 2008 Aug 19.
2008
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| 6 | SEPN1
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| Loss of selenoprotein N function causes disruption of muscle architecture in the zebrafish embryo.
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| Deniziak M, Thisse C, Rederstorff M, Hindelang C, Thisse B, Lescure A.
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| Exp Cell Res 313(1):156-67. Epub 2006 Oct 13.
2007
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| 7 | FKRP, FKTN, ITGA7, ITGA7D, LAMA2, MDC1A, MDC1B, POMGNT1, POMT1, RSMD1, SEPN1, WLKWS1, WLKWS4
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| Case 35-2006 -- A Newborn Boy with Hypotonia.
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| Brown RH Jr, Grant PE, Pierson CR.
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| N Engl J Med 355(20):2132-2142. No abstract available. 2006
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| 8 | CFTD2, SEPN1
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| SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
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| Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN.
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| Ann Neurol 59(3):546-52. 2006
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| 9 | SEPN1, CFTD2
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| Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.
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| Okamoto Y, Takashima H, Higuchi I, Matsuyama W, Suehara M, Nishihira Y, Hashiguchi A, Hirano R, Ng AR, Nakagawa M, Izumo S, Osame M, Arimura K.
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| Neurogenetics 7(3):175-83. Epub 2006 Jun 15. 2006
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| 10 | SEPN1, RSMD1
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| A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.
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| Allamand V, Richard P, Lescure A, Ledeuil C, Desjardin D, Petit N, Gartioux C, Ferreiro A, Krol A, Pellegrini N, Urtizberea JA, Guicheney P.
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| EMBO Rep 7(4):450-4. Epub 2006 Feb 24. 2006
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| 11 | SEPN1
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| SEPN1: associated with congenital fiber-type disproportion and insulin resistance.
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| Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN.
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| Ann Neurol 59(3):546-52.
2006
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| 12 | SEPN1, RSMD1
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| Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.
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| Venance SL, Koopman WJ, Miskie BA, Hegele RA, Hahn AF.
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| Neurology 64(2):395-6. No abstract available. 2005
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| 13 | RSMD1, SEPN1, DRM
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| Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.
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| Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bonnemann CG.
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| Ann Neurol 55(5):676-86. 2004
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| 14 | SEPN1
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| Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.
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| Petit N, Lescure A, Rederstorff M, Krol A, Moghadaszadeh B, Wewer UM, Guicheney P.
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| Hum Mol Genet 12(9):1045-53. 2003
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| 15 | RSMD1, SEPN1
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| Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
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| Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bonnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P.
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| Am J Hum Genet 71(4):739-49. 2002
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| 16 | SEPN1
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| Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
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| Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P.
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| Nat Genet 29(1):17-8. 2001
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| 17 | SEPN1, SEPX1, SEPHS2
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| Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.
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| Lescure A, Gautheret D, Carbon P, Krol A.
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| J Biol Chem 274(53):38147-54. 1999
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