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3. Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1. Dai Y; Liang S; Huang Y; Chen L; Banerjee S Oncotarget; 2016 Dec; 7(51):83843-83849. PubMed ID: 27863379 [TBL] [Abstract][Full Text] [Related]
4. [Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)]. Rudenskaia GE; Kadnikova VA; Poliakov AV Zh Nevrol Psikhiatr Im S S Korsakova; 2014; 114(5):70-4. PubMed ID: 24988964 [TBL] [Abstract][Full Text] [Related]
5. Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine. Sponholz S; von der Hagen M; Hahn G; Seifert J; Richard P; Stoltenburg-Didinger G; Ferreiro A; Kaindl AM J Child Neurol; 2006 Apr; 21(4):316-20. PubMed ID: 16900928 [TBL] [Abstract][Full Text] [Related]
6. Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene. 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 Neurogenetics; 2006 Jul; 7(3):175-83. PubMed ID: 16779558 [TBL] [Abstract][Full Text] [Related]
7. A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report. Ziyaee F; Shorafa E; Dastsooz H; Habibzadeh P; Nemati H; Saeed A; Silawi M; Farazi Fard MA; Faghihi MA; Dastgheib SA BMC Med Genet; 2019 Jan; 20(1):13. PubMed ID: 30642275 [TBL] [Abstract][Full Text] [Related]
8. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Moghadaszadeh B; Petit N; Jaillard C; Brockington M; Quijano Roy S; Merlini L; Romero N; Estournet B; Desguerre I; Chaigne D; Muntoni F; Topaloglu H; Guicheney P Nat Genet; 2001 Sep; 29(1):17-8. PubMed ID: 11528383 [TBL] [Abstract][Full Text] [Related]
10. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Schara U; Kress W; Bönnemann CG; Breitbach-Faller N; Korenke CG; Schreiber G; Stoetter M; Ferreiro A; von der Hagen M Eur J Paediatr Neurol; 2008 May; 12(3):224-30. PubMed ID: 17951086 [TBL] [Abstract][Full Text] [Related]
11. 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. Ferreiro A; Quijano-Roy S; Pichereau C; Moghadaszadeh B; Goemans N; Bönnemann 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 Am J Hum Genet; 2002 Oct; 71(4):739-49. PubMed ID: 12192640 [TBL] [Abstract][Full Text] [Related]
12. The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes. Mohamadian M; Naseri M; Ghandil P; Bahrami A; Momen AA J Gene Med; 2020 Dec; 22(12):e3265. PubMed ID: 32864802 [TBL] [Abstract][Full Text] [Related]
13. Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1). Tajsharghi H; Darin N; Tulinius M; Oldfors A Neuromuscul Disord; 2005 Apr; 15(4):299-302. PubMed ID: 15792869 [TBL] [Abstract][Full Text] [Related]
14. Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. D'Amico A; Haliloglu G; Richard P; Talim B; Maugenre S; Ferreiro A; Guicheney P; Menditto I; Benedetti S; Bertini E; Bonne G; Topaloglu H Neuromuscul Disord; 2005 Aug; 15(8):521-4. PubMed ID: 15961312 [TBL] [Abstract][Full Text] [Related]
15. Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. Venance SL; Koopman WJ; Miskie BA; Hegele RA; Hahn AF Neurology; 2005 Jan; 64(2):395-6. PubMed ID: 15668457 [No Abstract] [Full Text] [Related]
17. New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 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 J Neurol Sci; 2011 Jan; 300(1-2):107-13. PubMed ID: 20937510 [TBL] [Abstract][Full Text] [Related]
18. The congenital muscular dystrophies: recent advances and molecular insights. Mendell JR; Boué DR; Martin PT Pediatr Dev Pathol; 2006; 9(6):427-43. PubMed ID: 17163796 [TBL] [Abstract][Full Text] [Related]
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