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Journal Abstract Search

233 related items for PubMed ID: 31545528

  • 1. An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
    Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A.
    Neuropathol Appl Neurobiol; 2020 Jun; 46(4):359-374. PubMed ID: 31545528
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  • 3. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.
    Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108
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  • 5. Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
    Napolitano F, Bruno G, Terracciano C, Franzese G, Palomba NP, Scotto di Carlo F, Signoriello E, De Blasiis P, Navarro S, Gialluisi A, Melone MAB, Sampaolo S, Esposito T.
    Int J Mol Sci; 2021 Mar 31; 22(7):. PubMed ID: 33807278
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  • 6. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.
    Feeney EJ, Austin S, Chien YH, Mandel H, Schoser B, Prater S, Hwu WL, Ralston E, Kishnani PS, Raben N.
    Acta Neuropathol Commun; 2014 Jan 02; 2():2. PubMed ID: 24383498
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  • 7. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
    Rairikar MV, Case LE, Bailey LA, Kazi ZB, Desai AK, Berrier KL, Coats J, Gandy R, Quinones R, Kishnani PS.
    Mol Genet Metab; 2017 Nov 02; 122(3):99-107. PubMed ID: 28951071
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  • 8. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
    Schoser BG, Müller-Höcker J, Horvath R, Gempel K, Pongratz D, Lochmüller H, Müller-Felber W.
    Neuropathol Appl Neurobiol; 2007 Oct 02; 33(5):544-59. PubMed ID: 17573812
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  • 11. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
    Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E.
    Orphanet J Rare Dis; 2012 Jun 07; 7():35. PubMed ID: 22676651
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  • 13. Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.
    Moriggi M, Capitanio D, Torretta E, Barbacini P, Bragato C, Sartori P, Moggio M, Maggi L, Mora M, Gelfi C.
    Int J Mol Sci; 2021 Mar 11; 22(6):. PubMed ID: 33799647
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  • 17. Quantification of muscle pathology in infantile Pompe disease.
    Schänzer A, Kaiser AK, Mühlfeld C, Kulessa M, Paulus W, von Pein H, Rohrbach M, Viergutz L, Mengel E, Marquardt T, Neubauer B, Acker T, Hahn A.
    Neuromuscul Disord; 2017 Feb 11; 27(2):141-152. PubMed ID: 27927596
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  • 18. BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
    Carrasco-Rozas A, Fernández-Simón E, Suárez-Calvet X, Piñol-Jurado P, Alonso-Pérez J, de Luna N, Schoser B, Meinke P, Domínguez-González C, Hernández-Laín A, Paradas C, Rivas E, Illa I, Olivé M, Gallardo E, Díaz-Manera J.
    Am J Pathol; 2022 Aug 11; 192(8):1151-1166. PubMed ID: 35605642
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  • 19. [Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].
    Guevara-Campos J, Romeo-Villarroel MA, González-De Guevara L, Escobar V.
    Rev Neurol; 2013 Sep 16; 57(6):265-8. PubMed ID: 24008937
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