BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 11528383)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. [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]  

  • 7. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
    Moghadaszadeh B; Desguerre I; Topaloglu H; Muntoni F; Pavek S; Sewry C; Mayer M; Fardeau M; Tomé FM; Guicheney P
    Am J Hum Genet; 1998 Jun; 62(6):1439-45. PubMed ID: 9585610
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.
    Flanigan KM; Kerr L; Bromberg MB; Leonard C; Tsuruda J; Zhang P; Gonzalez-Gomez I; Cohn R; Campbell KP; Leppert M
    Ann Neurol; 2000 Feb; 47(2):152-61. PubMed ID: 10665485
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).
    Mercuri E; Talim B; Moghadaszadeh B; Petit N; Brockington M; Counsell S; Guicheney P; Muntoni F; Merlini L
    Neuromuscul Disord; 2002 Oct; 12(7-8):631-8. PubMed ID: 12207930
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.
    Moghadaszadeh B; Topaloglu H; Merlini L; Muntoni F; Estournet B; Sewry C; Naom I; Barois A; Fardeau M; Tomé FM; Guicheney P
    Neuromuscul Disord; 1999 Oct; 9(6-7):376-82. PubMed ID: 10545040
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. SEPN1-related Rigid Spine Muscular Dystrophy.
    Saini AG; Padmanabha H; Kumar S; Sankhyan N; Singhi P
    Indian J Pediatr; 2018 Nov; 85(11):1033-1034. PubMed ID: 29850975
    [No Abstract]   [Full Text] [Related]  

  • 13. [Selenoprotein-related muscular dystrophy].
    Hansen LK; Schrøder H; Ousager L
    Ugeskr Laeger; 2011 Nov; 173(48):3116-7. PubMed ID: 22118657
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Novel
    Fan Y; Xu Z; Li X; Gao F; Guo E; Chang X; Wei C; Zhang C; Yu Q; Que C; Xiao J; Yan C; Wang Z; Yuan Y; Xiong H
    Front Genet; 2022; 13():825793. PubMed ID: 35368679
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.
    Brockington M; Sewry CA; Herrmann R; Naom I; Dearlove A; Rhodes M; Topaloglu H; Dubowitz V; Voit T; Muntoni F
    Am J Hum Genet; 2000 Feb; 66(2):428-35. PubMed ID: 10677302
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
    Nissinen M; Helbling-Leclerc A; Zhang X; Evangelista T; Topaloglu H; Cruaud C; Weissenbach J; Fardeau M; Tomé FM; Schwartz K; Tryggvason K; Guicheney P
    Am J Hum Genet; 1996 Jun; 58(6):1177-84. PubMed ID: 8651294
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.