These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 15756726)

  • 1. [Neuromuscular diseases (NME). I. Spinal muscular atrophy, peripheral nerve diseases, congenital myasthenia gravis].
    Schara U; Mortier W
    Nervenarzt; 2004 Dec; 75(12):1231-45; quiz 1246-7. PubMed ID: 15756726
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Best practice guidelines for molecular analysis in spinal muscular atrophy.
    Scheffer H; Cobben JM; Matthijs G; Wirth B
    Eur J Hum Genet; 2001 Jul; 9(7):484-91. PubMed ID: 11464239
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Quantitative analysis of the genes determining spinal muscular atrophy].
    Nagymihály M; Herczegfalvi A; Tímár L; Karcagi V
    Ideggyogy Sz; 2009 Nov; 62(11-12):390-7. PubMed ID: 20025129
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations.
    Noguchi Y; Onishi A; Nakamachi Y; Hayashi N; Harahap NI; Rochmah MA; Shima A; Yanagisawa S; Morisada N; Nakagawa T; Iijima K; Kasagi S; Saegusa J; Kawano S; Shinohara M; Tairaku S; Saito T; Kubo Y; Saito K; Nishio H
    Pediatr Neurol; 2016 May; 58():83-9. PubMed ID: 27268759
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Therapeutics development for spinal muscular atrophy.
    Sumner CJ
    NeuroRx; 2006 Apr; 3(2):235-45. PubMed ID: 16554261
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spinal muscular atrophies.
    Viollet L; Melki J
    Handb Clin Neurol; 2013; 113():1395-411. PubMed ID: 23622363
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Securinine enhances SMN2 exon 7 inclusion in spinal muscular atrophy cells.
    Chen YC; Chang JG; Liu TY; Jong YJ; Cheng WL; Yuo CY
    Biomed Pharmacother; 2017 Apr; 88():708-714. PubMed ID: 28152480
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
    Watihayati MS; Fatemeh H; Marini M; Atif AB; Zahiruddin WM; Sasongko TH; Tang TH; Zabidi-Hussin ZA; Nishio H; Zilfalil BA
    Brain Dev; 2009 Jan; 31(1):42-5. PubMed ID: 18842367
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
    Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H
    Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
    Wirth B
    Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 29(2):254-9. PubMed ID: 24334346
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
    Alías L; Bernal S; Barceló MJ; Also-Rallo E; Martínez-Hernández R; Rodríguez-Alvarez FJ; Hernández-Chico C; Baiget M; Tizzano EF
    Genet Test Mol Biomarkers; 2011 Sep; 15(9):587-94. PubMed ID: 21548796
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
    Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
    Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.
    Su YN; Hung CC; Li H; Lee CN; Cheng WF; Tsao PN; Chang MC; Yu CL; Hsieh WS; Lin WL; Hsu SM
    Hum Mutat; 2005 May; 25(5):460-7. PubMed ID: 15832310
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells.
    Yuo CY; Lin HH; Chang YS; Yang WK; Chang JG
    Ann Neurol; 2008 Jan; 63(1):26-34. PubMed ID: 17924536
    [TBL] [Abstract][Full Text] [Related]  

  • 16. hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7.
    Cho S; Moon H; Loh TJ; Oh HK; Cho S; Choy HE; Song WK; Chun JS; Zheng X; Shen H
    Biochim Biophys Acta; 2014; 1839(4):306-15. PubMed ID: 24533984
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spinal muscular atrophy: molecular genetics and diagnostics.
    Ogino S; Wilson RB
    Expert Rev Mol Diagn; 2004 Jan; 4(1):15-29. PubMed ID: 14711346
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spinal muscular atrophy: from gene to therapy.
    Wirth B; Brichta L; Hahnen E
    Semin Pediatr Neurol; 2006 Jun; 13(2):121-31. PubMed ID: 17027862
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
    Monani UR; Lorson CL; Parsons DW; Prior TW; Androphy EJ; Burghes AH; McPherson JD
    Hum Mol Genet; 1999 Jul; 8(7):1177-83. PubMed ID: 10369862
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rapid diagnosis of spinal muscular atrophy using tetra-primer ARMS PCR assay: simultaneous detection of SMN1 and SMN2 deletion.
    Baris I; Etlik O; Koksal V; Arican-Baris ST
    Mol Cell Probes; 2010 Jun; 24(3):138-41. PubMed ID: 20025960
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.