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Results: 1 to 20 of 26

1.

Differentiation defects in primary motoneurons from a SMARD1 mouse model that are insensitive to treatment with low dose PEGylated IGF1.

Krieger F, Metzger F, Jablonka S.

Rare Dis. 2014 Jun 10;2:e29415. doi: 10.4161/rdis.29415. eCollection 2014.

PMID:
25083343
[PubMed]
Free PMC Article
2.

Genetics of amyotrophic lateral sclerosis: an update.

Chen S, Sayana P, Zhang X, Le W.

Mol Neurodegener. 2013 Aug 13;8:28. doi: 10.1186/1750-1326-8-28. Review.

PMID:
23941283
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Heterogeneity in spinal muscular atrophy with respiratory distress type 1.

Majid A, Talat K, Colin L, Caroline R, Helen K, Christian de G.

J Pediatr Neurosci. 2012 Sep;7(3):197-9. doi: 10.4103/1817-1745.106478.

PMID:
23560007
[PubMed]
Free PMC Article
4.

Structure and Mechanisms of SF1 DNA Helicases.

Raney KD, Byrd AK, Aarattuthodiyil S.

Adv Exp Med Biol. 2013;767:17-46. doi: 10.1007/978-1-4614-5037-5_2.

PMID:
23161005
[PubMed - in process]
Free PMC Article
5.

Genome-wide approaches to dissect the roles of RNA binding proteins in translational control: implications for neurological diseases.

Kapeli K, Yeo GW.

Front Neurosci. 2012 Oct 2;6:144. doi: 10.3389/fnins.2012.00144. eCollection 2012.

PMID:
23060744
[PubMed]
Free PMC Article
6.

The Ighmbp2 helicase structure reveals the molecular basis for disease-causing mutations in DMSA1.

Lim SC, Bowler MW, Lai TF, Song H.

Nucleic Acids Res. 2012 Nov;40(21):11009-22. doi: 10.1093/nar/gks792. Epub 2012 Sep 10.

PMID:
22965130
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Contrasting pathology of the stress granule proteins TIA-1 and G3BP in tauopathies.

Vanderweyde T, Yu H, Varnum M, Liu-Yesucevitz L, Citro A, Ikezu T, Duff K, Wolozin B.

J Neurosci. 2012 Jun 13;32(24):8270-83. doi: 10.1523/JNEUROSCI.1592-12.2012.

PMID:
22699908
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2.

Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B.

Eur J Hum Genet. 2012 Nov;20(11):1193-6. doi: 10.1038/ejhg.2012.76. Epub 2012 Apr 25.

PMID:
22535186
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.

Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D.

Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26.

PMID:
22237431
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Local RNA translation at the synapse and in disease.

Liu-Yesucevitz L, Bassell GJ, Gitler AD, Hart AC, Klann E, Richter JD, Warren ST, Wolozin B.

J Neurosci. 2011 Nov 9;31(45):16086-93. doi: 10.1523/JNEUROSCI.4105-11.2011. Review.

PMID:
22072660
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.

Skourti-Stathaki K, Proudfoot NJ, Gromak N.

Mol Cell. 2011 Jun 24;42(6):794-805. doi: 10.1016/j.molcel.2011.04.026.

PMID:
21700224
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

A yeast model of FUS/TLS-dependent cytotoxicity.

Ju S, Tardiff DF, Han H, Divya K, Zhong Q, Maquat LE, Bosco DA, Hayward LJ, Brown RH Jr, Lindquist S, Ringe D, Petsko GA.

PLoS Biol. 2011 Apr;9(4):e1001052. doi: 10.1371/journal.pbio.1001052. Epub 2011 Apr 26.

PMID:
21541368
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.

Pierson TM, Tart G, Adams D, Toro C, Golas G, Tifft C, Gahl W.

Neuromuscul Disord. 2011 May;21(5):353-5. doi: 10.1016/j.nmd.2011.02.005. Epub 2011 Feb 25.

PMID:
21353777
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Genetic rodent models of amyotrophic lateral sclerosis.

Van Den Bosch L.

J Biomed Biotechnol. 2011;2011:348765. doi: 10.1155/2011/348765. Epub 2011 Jan 2. Review.

PMID:
21274268
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32.

Harms MB, Allred P, Gardner R Jr, Fernandes Filho JA, Florence J, Pestronk A, Al-Lozi M, Baloh RH.

Neurology. 2010 Aug 10;75(6):539-46. doi: 10.1212/WNL.0b013e3181ec800c.

PMID:
20697106
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

miRNA malfunction causes spinal motor neuron disease.

Haramati S, Chapnik E, Sztainberg Y, Eilam R, Zwang R, Gershoni N, McGlinn E, Heiser PW, Wills AM, Wirguin I, Rubin LL, Misawa H, Tabin CJ, Brown R Jr, Chen A, Hornstein E.

Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):13111-6. doi: 10.1073/pnas.1006151107. Epub 2010 Jun 29.

PMID:
20616011
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

RNA processing and its regulation: global insights into biological networks.

Licatalosi DD, Darnell RB.

Nat Rev Genet. 2010 Jan;11(1):75-87. doi: 10.1038/nrg2673. Review.

PMID:
20019688
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

RNA processing defects associated with diseases of the motor neuron.

Kolb SJ, Sutton S, Schoenberg DR.

Muscle Nerve. 2010 Jan;41(1):5-17. doi: 10.1002/mus.21428. Review.

PMID:
19697368
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.

de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z.

Hum Mol Genet. 2009 Jun 15;18(12):2115-26. doi: 10.1093/hmg/ddp134. Epub 2009 Mar 19.

PMID:
19299493
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C.

Am J Hum Genet. 2007 Jul;81(1):67-76. Epub 2007 May 16.

PMID:
17564964
[PubMed - indexed for MEDLINE]
Free PMC Article

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