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Items: 1 to 20 of 302

1.

Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy.

Armbruster N, Lattanzi A, Jeavons M, Van Wittenberghe L, Gjata B, Marais T, Martin S, Vignaud A, Voit T, Mavilio F, Barkats M, Buj-Bello A.

Mol Ther Methods Clin Dev. 2016 Sep 14;3:16060. doi: 10.1038/mtm.2016.60. eCollection 2016.

2.

New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy.

Liu Z, Zhang P, He X, Liu S, Tang S, Zhang R, Wang X, Tan J, Peng B, Jiang L, Hong S, Zou L.

BMC Neurol. 2016 Aug 17;16(1):141. doi: 10.1186/s12883-016-0651-y.

3.

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.

Hosseinibarkooie S, Peters M, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett CF, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B.

Am J Hum Genet. 2016 Sep 1;99(3):647-65. doi: 10.1016/j.ajhg.2016.07.014. Epub 2016 Aug 4.

PMID:
27499521
4.

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein.

Seo J, Singh NN, Ottesen EW, Lee BM, Singh RN.

Sci Rep. 2016 Aug 2;6:30778. doi: 10.1038/srep30778.

5.

Decreased function of survival motor neuron protein impairs endocytic pathways.

Dimitriadi M, Derdowski A, Kalloo G, Maginnis MS, O'Hern P, Bliska B, Sorkaç A, Nguyen KC, Cook SJ, Poulogiannis G, Atwood WJ, Hall DH, Hart AC.

Proc Natl Acad Sci U S A. 2016 Jul 26;113(30):E4377-86. doi: 10.1073/pnas.1600015113. Epub 2016 Jul 11.

PMID:
27402754
6.

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.

Bruun GH, Doktor TK, Borch-Jensen J, Masuda A, Krainer AR, Ohno K, Andresen BS.

BMC Biol. 2016 Jul 5;14:54. doi: 10.1186/s12915-016-0279-9.

7.

Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy.

Deguise MO, Boyer JG, McFall ER, Yazdani A, De Repentigny Y, Kothary R.

Sci Rep. 2016 Jun 28;6:28846. doi: 10.1038/srep28846.

8.

Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.

Shukla S, Parker R.

Trends Mol Med. 2016 Jul;22(7):615-28. doi: 10.1016/j.molmed.2016.05.005. Epub 2016 Jun 3. Review.

PMID:
27263464
9.

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment.

Sintusek P, Catapano F, Angkathunkayul N, Marrosu E, Parson SH, Morgan JE, Muntoni F, Zhou H.

PLoS One. 2016 May 10;11(5):e0155032. doi: 10.1371/journal.pone.0155032. eCollection 2016.

10.

Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene.

Seo J, Singh NN, Ottesen EW, Sivanesan S, Shishimorova M, Singh RN.

PLoS One. 2016 Apr 25;11(4):e0154390. doi: 10.1371/journal.pone.0154390. eCollection 2016.

11.

Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy.

Ahmad S, Bhatia K, Kannan A, Gangwani L.

J Exp Neurosci. 2016 Mar 23;10:39-49. doi: 10.4137/JEN.S33122. eCollection 2016. Review.

12.

Therapeutic activity of modified U1 core spliceosomal particles.

Rogalska ME, Tajnik M, Licastro D, Bussani E, Camparini L, Mattioli C, Pagani F.

Nat Commun. 2016 Apr 4;7:11168. doi: 10.1038/ncomms11168.

13.

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.

Butchbach ME.

Front Mol Biosci. 2016 Mar 10;3:7. doi: 10.3389/fmolb.2016.00007. eCollection 2016. Review.

14.

Noncanonical registers and base pairs in human 5' splice-site selection.

Tan J, Ho JX, Zhong Z, Luo S, Chen G, Roca X.

Nucleic Acids Res. 2016 May 5;44(8):3908-21. doi: 10.1093/nar/gkw163. Epub 2016 Mar 11.

15.

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials.

Zaworski P, von Herrmann KM, Taylor S, Sunshine SS, McCarthy K, Risher N, Newcomb T, Weetall M, Prior TW, Swoboda KJ, Chen KS, Paushkin S.

PLoS One. 2016 Mar 8;11(3):e0150640. doi: 10.1371/journal.pone.0150640. eCollection 2016.

16.

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AH, Bartlett A, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators.

Ann Clin Transl Neurol. 2016 Jan 21;3(2):132-45. doi: 10.1002/acn3.283. eCollection 2016 Feb.

17.

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

Butchbach ME, Lumpkin CJ, Harris AW, Saieva L, Edwards JD, Workman E, Simard LR, Pellizzoni L, Burghes AH.

Exp Neurol. 2016 May;279:13-26. doi: 10.1016/j.expneurol.2016.02.009. Epub 2016 Feb 15.

PMID:
26892876
18.

Neuromuscular Junctions as Key Contributors and Therapeutic Targets in Spinal Muscular Atrophy.

Boido M, Vercelli A.

Front Neuroanat. 2016 Feb 3;10:6. doi: 10.3389/fnana.2016.00006. eCollection 2016. Review.

19.

Selection preserves Ubiquitin Specific Protease 4 alternative exon skipping in therian mammals.

Vlasschaert C, Xia X, Gray DA.

Sci Rep. 2016 Feb 2;6:20039. doi: 10.1038/srep20039.

20.

Placental development in a mouse model of spinal muscular atrophy.

Van Gronigen Caesar G, Dale JM, Osman EY, Garcia ML, Lorson CL, Schulz LC.

Biochem Biophys Res Commun. 2016 Jan 29;470(1):82-7. doi: 10.1016/j.bbrc.2015.12.120. Epub 2015 Dec 31.

PMID:
26748185
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