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Journal Abstract Search


150 related items for PubMed ID: 34794294

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  • 5. Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.
    San Millan B, Fernandez JM, Navarro C, Reparaz A, Teijeira S.
    Clin Neuropathol; 2016; 35(2):58-65. PubMed ID: 26709713
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  • 6. Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature.
    Luan X, Huang X, Liu X, Zhou H, Chen S, Cao L.
    Brain Dev; 2016 Aug; 38(7):685-9. PubMed ID: 26922252
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  • 7. Growing up with spinal muscular atrophy with respiratory distress (SMARD1).
    Hamilton MJ, Longman C, O'Hara A, Kirkpatrick M, McWilliam R.
    Neuromuscul Disord; 2015 Feb; 25(2):169-71. PubMed ID: 25454169
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  • 9. Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Perego MGL, Galli N, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S.
    Cell Mol Life Sci; 2020 Sep; 77(17):3351-3367. PubMed ID: 32123965
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  • 12. Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.
    Holbrook SE, Hicks AN, Martin PB, Hines TJ, Castro HP, Cox GA.
    Hum Mol Genet; 2024 Oct 07; 33(20):1800-1814. PubMed ID: 39128026
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  • 13. Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent.
    Shababi M, Feng Z, Villalon E, Sibigtroth CM, Osman EY, Miller MR, Williams-Simon PA, Lombardi A, Sass TH, Atkinson AK, Garcia ML, Ko CP, Lorson CL.
    Mol Ther; 2016 May 07; 24(5):855-66. PubMed ID: 26860981
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  • 14. Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1).
    Surrey V, Zöller C, Lork AA, Moradi M, Balk S, Dombert B, Saal-Bauernschubert L, Briese M, Appenzeller S, Fischer U, Jablonka S.
    Neuroscience; 2018 Aug 21; 386():24-40. PubMed ID: 29928949
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  • 15. Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights.
    Saladini M, Nizzardo M, Govoni A, Taiana M, Bresolin N, Comi GP, Corti S.
    J Cell Mol Med; 2020 Jan 21; 24(2):1169-1178. PubMed ID: 31802621
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  • 19. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Grohmann K, Varon R, Stolz P, Schuelke M, Janetzki C, Bertini E, Bushby K, Muntoni F, Ouvrier R, Van Maldergem L, Goemans NM, Lochmüller H, Eichholz S, Adams C, Bosch F, Grattan-Smith P, Navarro C, Neitzel H, Polster T, Topaloğlu H, Steglich C, Guenther UP, Zerres K, Rudnik-Schöneborn S, Hübner C.
    Ann Neurol; 2003 Dec 21; 54(6):719-24. PubMed ID: 14681881
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