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Items: 1 to 20 of 121

1.

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.

Tiziano FD, Lomastro R, Pinto AM, Messina S, D'Amico A, Fiori S, Angelozzi C, Pane M, Mercuri E, Bertini E, Neri G, Brahe C.

J Med Genet. 2010 Dec;47(12):856-8. doi: 10.1136/jmg.2010.080366. Epub 2010 Sep 12.

PMID:
20837492
2.

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.

Tiziano FD, Pinto AM, Fiori S, Lomastro R, Messina S, Bruno C, Pini A, Pane M, D'Amico A, Ghezzo A, Bertini E, Mercuri E, Neri G, Brahe C.

Eur J Hum Genet. 2010 Jan;18(1):52-8. doi: 10.1038/ejhg.2009.116.

3.

Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells.

Angelozzi C, Borgo F, Tiziano FD, Martella A, Neri G, Brahe C.

J Med Genet. 2008 Jan;45(1):29-31. Epub 2007 Oct 11.

PMID:
17932121
4.

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.

Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, Matsuo M, Nishio H.

J Neurol. 2002 Sep;249(9):1211-9.

PMID:
12242541
5.

Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells.

Grzeschik SM, Ganta M, Prior TW, Heavlin WD, Wang CH.

Ann Neurol. 2005 Aug;58(2):194-202.

PMID:
16049920
6.

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.

Zheleznyakova GY, Kiselev AV, Vakharlovsky VG, Rask-Andersen M, Chavan R, Egorova AA, Schiöth HB, Baranov VS.

BMC Med Genet. 2011 Jul 15;12:96. doi: 10.1186/1471-2350-12-96.

7.
8.

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.

Crawford TO, Paushkin SV, Kobayashi DT, Forrest SJ, Joyce CL, Finkel RS, Kaufmann P, Swoboda KJ, Tiziano D, Lomastro R, Li RH, Trachtenberg FL, Plasterer T, Chen KS; Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group.

PLoS One. 2012;7(4):e33572. doi: 10.1371/journal.pone.0033572. Epub 2012 Apr 27.

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. doi: 10.1016/j.braindev.2013.11.009. Epub 2013 Dec 17.

PMID:
24359787
10.

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.

Tiziano FD, Lomastro R, Di Pietro L, Barbara Pasanisi M, Fiori S, Angelozzi C, Abiusi E, Angelini C, Sorarù G, Gaiani A, Mongini T, Vercelli L, Vasco G, Vita G, Luca Vita G, Messina S, Politano L, Passamano L, Di Gregorio G, Montomoli C, Orsi C, Campanella A, Mantegazza R, Morandi L.

Eur J Hum Genet. 2013 Jun;21(6):630-6. doi: 10.1038/ejhg.2012.233. Epub 2012 Oct 17.

11.

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.

Riessland M, Ackermann B, Förster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blumcke I, Hahnen E, Wirth B.

Hum Mol Genet. 2010 Apr 15;19(8):1492-506. doi: 10.1093/hmg/ddq023. Epub 2010 Jan 22.

PMID:
20097677
12.

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.

Monani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossoll W, Prior TW, Morris GE, Burghes AH.

Hum Mol Genet. 2000 Feb 12;9(3):333-9. Erratum in: Hum Mol Genet. 2007 Nov 1;16(21):2648. Rossol, W [corrected to Rossoll, W].

PMID:
10655541
13.

The effect of hydroxyurea in spinal muscular atrophy cells and patients.

Liang WC, Yuo CY, Chang JG, Chen YC, Chang YF, Wang HY, Ju YH, Chiou SS, Jong YJ.

J Neurol Sci. 2008 May 15;268(1-2):87-94. doi: 10.1016/j.jns.2007.11.012. Epub 2007 Dec 31.

PMID:
18166199
14.

Development and characterization of an SMN2-based intermediate mouse model of Spinal Muscular Atrophy.

Cobb MS, Rose FF, Rindt H, Glascock JJ, Shababi M, Miller MR, Osman EY, Yen PF, Garcia ML, Martin BR, Wetz MJ, Mazzasette C, Feng Z, Ko CP, Lorson CL.

Hum Mol Genet. 2013 May 1;22(9):1843-55. doi: 10.1093/hmg/ddt037. Epub 2013 Feb 5.

PMID:
23390132
15.

Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy.

Williams JH, Schray RC, Patterson CA, Ayitey SO, Tallent MK, Lutz GJ.

J Neurosci. 2009 Jun 17;29(24):7633-8. doi: 10.1523/JNEUROSCI.0950-09.2009.

16.

Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog.

Ohuchi K, Funato M, Kato Z, Seki J, Kawase C, Tamai Y, Ono Y, Nagahara Y, Noda Y, Kameyama T, Ando S, Tsuruma K, Shimazawa M, Hara H, Kaneko H.

Stem Cells Transl Med. 2016 Feb;5(2):152-63. doi: 10.5966/sctm.2015-0059. Epub 2015 Dec 18.

17.

Therapeutics development for spinal muscular atrophy.

Sumner CJ.

NeuroRx. 2006 Apr;3(2):235-45. Review.

18.

Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.

Harahap NI, Takeuchi A, Yusoff S, Tominaga K, Okinaga T, Kitai Y, Takarada T, Kubo Y, Saito K, Sa'adah N, Nurputra DK, Nishimura N, Saito T, Nishio H.

Brain Dev. 2015 Aug;37(7):669-76. doi: 10.1016/j.braindev.2014.10.006. Epub 2014 Oct 31.

PMID:
25459970
19.

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. doi: 10.1016/j.braindev.2008.08.012. Epub 2008 Oct 7.

PMID:
18842367
20.

[The study of the correlation between the clinical phenotype of spinal muscular atrophy and SMN2 gene copy number].

Lu LP, Ma HW, Jiang J, Wang T, Hu B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):144-7. Chinese.

PMID:
17407069

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