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Journal Abstract Search

130 related items for PubMed ID: 24934113

  • 1. The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
    Arnold WD, Mo X, Kolb SJ, Burghes AH, Kissel JT.
    Muscle Nerve; 2014 Sep; 50(3):457-8. PubMed ID: 24934113
    [No Abstract] [Full Text] [Related]

  • 2. Reply: To PMID 23893312.
    Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, De Vivo DC, Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy.
    Muscle Nerve; 2014 Sep; 50(3):458-9. PubMed ID: 24935909
    [No Abstract] [Full Text] [Related]

  • 3. The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
    Kang PB, Gooch CL, McDermott MP, Darras BT, Finkel RS, Yang ML, Sproule DM, Chung WK, Kaufmann P, de Vivo DC, Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy.
    Muscle Nerve; 2014 May; 49(5):636-44. PubMed ID: 23893312
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  • 7. Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients.
    Bora-Tatar G, Yesbek-Kaymaz A, Bekircan-Kurt CE, Erdem-Özdamar S, Erdem-Yurter H.
    Eur J Med Genet; 2015 Dec; 58(12):654-8. PubMed ID: 26548498
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  • 8. Tissue-specific models of spinal muscular atrophy confirm a critical role of SMN in motor neurons from embryonic to adult stages.
    Laird AS, Mackovski N, Rinkwitz S, Becker TS, Giacomotto J.
    Hum Mol Genet; 2016 May 01; 25(9):1728-38. PubMed ID: 26908606
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  • 9. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.
    Lohkamp LN, von Au K, Goebel HH, Kress W, Grieben U, Drossel K, Garbes L, Wirth B, Heppner FL, Stenzel W.
    J Child Neurol; 2014 Feb 01; 29(2):254-9. PubMed ID: 24334346
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  • 10. SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA.
    Niba ETE, Ar Rochmah M, Harahap NIF, Awano H, Morioka I, Iijima K, Saito T, Saito K, Takeuchi A, Lai PS, Bouike Y, Nishio H, Shinohara M.
    Kobe J Med Sci; 2017 Dec 18; 63(3):E80-E83. PubMed ID: 29434179
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  • 11. Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?
    Sag E, Sen HS, Haliloglu G, Yalcin B, Kutluk T.
    J Child Neurol; 2015 Jul 18; 30(8):1075-8. PubMed ID: 25123529
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  • 12. Clinical trials in spinal muscular atrophy.
    Darras BT, Kang PB.
    Curr Opin Pediatr; 2007 Dec 18; 19(6):675-9. PubMed ID: 18025935
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  • 13. Clinical utility gene card for: proximal spinal muscular atrophy.
    Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K.
    Eur J Hum Genet; 2012 Jun 18; 20(6):. PubMed ID: 22510849
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  • 14. New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion.
    Shinohara M, Ar Rochmah M, Nakanishi K, Harahap NIF, Niba ETE, Saito T, Saito K, Takeuchi A, Bouike Y, Nishio H.
    Kobe J Med Sci; 2017 Sep 07; 63(2):E37-E40. PubMed ID: 29434172
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  • 17. Spinal muscular atrophy diagnostics.
    Prior TW.
    J Child Neurol; 2007 Aug 07; 22(8):952-6. PubMed ID: 17761649
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  • 18. [SMN1 Gene Point Mutations in Type I-IV Proximal Spinal Muscular Atrophy Patients with a Single Copy of SMN1].
    Genetika; 2015 Sep 07; 51(9):1075-82. PubMed ID: 26606804
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  • 19. Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
    Medrano S, Monges S, Gravina LP, Alías L, Mozzoni J, Aráoz HV, Bernal S, Moresco A, Chertkoff L, Tizzano E.
    Eur J Paediatr Neurol; 2016 Nov 07; 20(6):910-917. PubMed ID: 27510309
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  • 20. Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.
    Rudnik-Schöneborn S, Barisić N, Eggermann K, Ortiz Brüchle N, Grđan P, Zerres K.
    Neuromuscul Disord; 2016 Feb 07; 26(2):132-5. PubMed ID: 26794302
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