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Journal Abstract Search

191 related items for PubMed ID: 33200426

  • 1. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
    Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H.
    Clin Genet; 2021 Mar; 99(3):384-395. PubMed ID: 33200426
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  • 2. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.
    Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207
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  • 3. POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
    Endo T, Manya H, Seta N, Guicheney P.
    Methods Enzymol; 2010 Oct; 479():343-52. PubMed ID: 20816175
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  • 6. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
    Yanagisawa A, Bouchet C, Quijano-Roy S, Vuillaumier-Barrot S, Clarke N, Odent S, Rodriguez D, Romero NB, Osawa M, Endo T, Taratuto AL, Seta N, Guicheney P.
    Eur J Med Genet; 2009 Oct; 52(4):201-6. PubMed ID: 19138766
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  • 9. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
    Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.
    Neuromuscul Disord; 2011 Jan; 21(1):20-30. PubMed ID: 20961758
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  • 10. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
    Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P, UK10K Consortium, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F.
    Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328
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  • 11. POMT1 and POMT2 gene mutations result in 2 cases of alpha-dystroglycanopathy.
    Gan S, Yang H, Xiao T, Pan Z, Wu L.
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Aug 28; 46(8):915-919. PubMed ID: 34565739
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  • 12. Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.
    Vannoy CH, Xu L, Keramaris E, Lu P, Xiao X, Lu QL.
    Hum Gene Ther Methods; 2014 Jun 28; 25(3):187-96. PubMed ID: 24635668
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  • 13. Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
    Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, Fischer D.
    Neuromuscul Disord; 2014 Apr 28; 24(4):321-4. PubMed ID: 24556424
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  • 18. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
    Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E.
    Neuromuscul Disord; 2008 Jul 28; 18(7):565-71. PubMed ID: 18513969
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  • 20. Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
    Safwat S, Flannery KP, El Beheiry AA, Mokhtar MM, Abdalla E, Manzini MC.
    Neurogenetics; 2024 Apr 28; 25(2):93-102. PubMed ID: 38296890
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