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Items: 13

1.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004. No abstract available.

2.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Erratum in: Am J Hum Genet. 2019 May 2;104(5):1007.

3.

Increased polyamines as protective disease modifiers in congenital muscular dystrophy.

Kemaladewi DU, Benjamin JS, Hyatt E, Ivakine EA, Cohn RD.

Hum Mol Genet. 2018 Jun 1;27(11):1905-1912. doi: 10.1093/hmg/ddy097.

PMID:
29566247
4.

Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism.

Kemaladewi DU, Maino E, Hyatt E, Hou H, Ding M, Place KM, Zhu X, Bassi P, Baghestani Z, Deshwar AG, Merico D, Xiong HY, Frey BJ, Wilson MD, Ivakine EA, Cohn RD.

Nat Med. 2017 Aug;23(8):984-989. doi: 10.1038/nm.4367. Epub 2017 Jul 17.

PMID:
28714989
5.

Exon Snipping in Duchenne Muscular Dystrophy.

Kemaladewi DU, Cohn RD.

Trends Mol Med. 2016 Mar;22(3):187-189. doi: 10.1016/j.molmed.2016.01.007. Epub 2016 Feb 5.

PMID:
26856237
6.

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD.

Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10.

7.

Targeting TGF-β Signaling by Antisense Oligonucleotide-mediated Knockdown of TGF-β Type I Receptor.

Kemaladewi DU, Pasteuning S, van der Meulen JW, van Heiningen SH, van Ommen GJ, Ten Dijke P, Aartsma-Rus A, 't Hoen PA, Hoogaars WM.

Mol Ther Nucleic Acids. 2014 Apr 1;3:e156. doi: 10.1038/mtna.2014.7.

8.

Novel Ex Vivo Culture Method for the Study of Dupuytren's Disease: Effects of TGFβ Type 1 Receptor Modulation by Antisense Oligonucleotides.

Karkampouna S, Kruithof BP, Kloen P, Obdeijn MC, van der Laan AM, Tanke HJ, Kemaladewi DU, Hoogaars WM, 't Hoen PA, Aartsma-Rus A, Clark IM, Ten Dijke P, Goumans MJ, Kruithof-de Julio M.

Mol Ther Nucleic Acids. 2014 Jan 21;3:e142. doi: 10.1038/mtna.2013.69.

9.

Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva.

Shi S, Cai J, de Gorter DJ, Sanchez-Duffhues G, Kemaladewi DU, Hoogaars WM, Aartsma-Rus A, 't Hoen PA, ten Dijke P.

PLoS One. 2013 Jul 4;8(7):e69096. doi: 10.1371/journal.pone.0069096. Print 2013.

10.

Cell-type specific regulation of myostatin signaling.

Kemaladewi DU, de Gorter DJ, Aartsma-Rus A, van Ommen GJ, ten Dijke P, 't Hoen PA, Hoogaars WM.

FASEB J. 2012 Apr;26(4):1462-72. doi: 10.1096/fj.11-191189. Epub 2011 Dec 27.

PMID:
22202673
11.

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy.

Kemaladewi DU, Hoogaars WM, van Heiningen SH, Terlouw S, de Gorter DJ, den Dunnen JT, van Ommen GJ, Aartsma-Rus A, ten Dijke P, 't Hoen PA.

BMC Med Genomics. 2011 Apr 20;4:36. doi: 10.1186/1755-8794-4-36.

12.

BMP antagonists enhance myogenic differentiation and ameliorate the dystrophic phenotype in a DMD mouse model.

Shi S, Hoogaars WM, de Gorter DJ, van Heiningen SH, Lin HY, Hong CC, Kemaladewi DU, Aartsma-Rus A, ten Dijke P, 't Hoen PA.

Neurobiol Dis. 2011 Feb;41(2):353-60. doi: 10.1016/j.nbd.2010.10.003. Epub 2010 Oct 16.

13.

ATP8A1 activity and phosphatidylserine transbilayer movement.

Soupene E, Kemaladewi DU, Kuypers FA.

J Receptor Ligand Channel Res. 2008;1:1-10.

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