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Journal Abstract Search

266 related items for PubMed ID: 26922252

  • 21.
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  • 22. Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant.
    Baughn J, Gershan W, Rao A.
    Pediatr Pulmonol; 2011 Aug; 46(8):817-9. PubMed ID: 21360834
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  • 23.
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  • 24. Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration.
    Yasui Y, Sato H, Niida Y, Kohno M.
    Congenit Anom (Kyoto); 2019 Jan; 59(1):22-23. PubMed ID: 29575095
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  • 26. The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Eckart M, Guenther UP, Idkowiak J, Varon R, Grolle B, Boffi P, Van Maldergem L, Hübner C, Schuelke M, von Au K.
    Pediatrics; 2012 Jan; 129(1):e148-56. PubMed ID: 22157136
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  • 27. [Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
    Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Gressens P, Schuelke M, Hubner C, von Au K.
    Arch Pediatr; 2008 Oct; 15(10):1568-72. PubMed ID: 18804971
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  • 28.
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  • 29. Mutation of gene in spinal muscular atrophy respiratory distress type I.
    Wong VC, Chung BH, Li S, Goh W, Lee SL.
    Pediatr Neurol; 2006 Jun; 34(6):474-7. PubMed ID: 16765827
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  • 31. Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1.
    Vanoli F, Rinchetti P, Porro F, Parente V, Corti S.
    J Cell Mol Med; 2015 Sep; 19(9):2058-66. PubMed ID: 26095024
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  • 32. Clinical diversity caused by novel IGHMBP2 variants.
    Yuan JH, Hashiguchi A, Yoshimura A, Yaguchi H, Tsuzaki K, Ikeda A, Wada-Isoe K, Ando M, Nakamura T, Higuchi Y, Hiramatsu Y, Okamoto Y, Takashima H.
    J Hum Genet; 2017 Jun; 62(6):599-604. PubMed ID: 28202949
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  • 33.
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  • 34. [A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
    Chalançon M, Debillon T, Dieterich K, Commare MC.
    Arch Pediatr; 2012 Oct; 19(10):1082-5. PubMed ID: 22981475
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  • 35. Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Grohmann K, Rossoll W, Kobsar I, Holtmann B, Jablonka S, Wessig C, Stoltenburg-Didinger G, Fischer U, Hübner C, Martini R, Sendtner M.
    Hum Mol Genet; 2004 Sep 15; 13(18):2031-42. PubMed ID: 15269181
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  • 36.
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  • 37. Spinal Muscular Atrophy with Respiratory Distress<br /> Type 1: A Novel Variant of IGHMBP2 Gene.
    Saeed M, Fawzy W, Al-Tala S, Magid TA, Ahmed H.
    J Coll Physicians Surg Pak; 2021 Dec 15; 31(12):1494-1496. PubMed ID: 34794294
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