Chan CH - Search Results

1

Targeting shared molecular etiologies to accelerate drug development for rare diseases.

Zanello G, Garrido-Estepa M, Crespo A, O'Connor D, Nabbout R, Waters C, Hall A, Taglialatela M, Chan CH, Pearce DA, Dooms M, Brooks PJ. Zanello G, et al. Among authors: chan ch. EMBO Mol Med. 2023 Jul 10;15(7):e17159. doi: 10.15252/emmm.202217159. Epub 2023 Jun 27. EMBO Mol Med. 2023. PMID: 37366158 Free PMC article. Review.

2

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.

Miller JN, Chan CH, Pearce DA. Miller JN, et al. Among authors: chan ch. Hum Mol Genet. 2013 Jul 1;22(13):2723-34. doi: 10.1093/hmg/ddt120. Epub 2013 Mar 28. Hum Mol Genet. 2013. PMID: 23539563 Free PMC article.

3

Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients.

Zanello G, Chan CH, Pearce DA; IRDiRC Working Group. Zanello G, et al. Among authors: chan ch. Orphanet J Rare Dis. 2022 May 7;17(1):181. doi: 10.1186/s13023-022-02337-2. Orphanet J Rare Dis. 2022. PMID: 35526001 Free PMC article.

4

Plasma biomarkers for neuronal ceroid lipofuscinosis.

Hersrud SL, Geraets RD, Weber KL, Chan CH, Pearce DA. Hersrud SL, et al. Among authors: chan ch. FEBS J. 2016 Feb;283(3):459-71. doi: 10.1111/febs.13593. Epub 2015 Dec 17. FEBS J. 2016. PMID: 26565144 Free PMC article.

5

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.

Tisdale A, Cutillo CM, Nathan R, Russo P, Laraway B, Haendel M, Nowak D, Hasche C, Chan CH, Griese E, Dawkins H, Shukla O, Pearce DA, Rutter JL, Pariser AR. Tisdale A, et al. Among authors: chan ch. Orphanet J Rare Dis. 2021 Oct 22;16(1):429. doi: 10.1186/s13023-021-02061-3. Orphanet J Rare Dis. 2021. PMID: 34674728 Free PMC article.

6

BTN1, the Saccharomyces cerevisiae homolog to the human Batten disease gene, is involved in phospholipid distribution.

Padilla-López S, Langager D, Chan CH, Pearce DA. Padilla-López S, et al. Among authors: chan ch. Dis Model Mech. 2012 Mar;5(2):191-9. doi: 10.1242/dmm.008490. Epub 2011 Nov 22. Dis Model Mech. 2012. PMID: 22107873 Free PMC article.

7

Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3.

Getty A, Kovács AD, Lengyel-Nelson T, Cardillo A, Hof C, Chan CH, Pearce DA. Getty A, et al. Among authors: chan ch. PLoS One. 2013 Jun 20;8(6):e66203. doi: 10.1371/journal.pone.0066203. Print 2013. PLoS One. 2013. PMID: 23840424 Free PMC article.

8

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.

Chan CH, Mitchison HM, Pearce DA. Chan CH, et al. Hum Mol Genet. 2008 Nov 1;17(21):3332-9. doi: 10.1093/hmg/ddn228. Epub 2008 Aug 4. Hum Mol Genet. 2008. PMID: 18678598 Free PMC article.

9

A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.

Beraldi R, Chan CH, Rogers CS, Kovács AD, Meyerholz DK, Trantzas C, Lambertz AM, Darbro BW, Weber KL, White KA, Rheeden RV, Kruer MC, Dacken BA, Wang XJ, Davis BT, Rohret JA, Struzynski JT, Rohret FA, Weimer JM, Pearce DA. Beraldi R, et al. Among authors: chan ch. Hum Mol Genet. 2015 Nov 15;24(22):6473-84. doi: 10.1093/hmg/ddv356. Epub 2015 Sep 15. Hum Mol Genet. 2015. PMID: 26374845 Free PMC article.

10

Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease.

Kielar C, Wishart TM, Palmer A, Dihanich S, Wong AM, Macauley SL, Chan CH, Sands MS, Pearce DA, Cooper JD, Gillingwater TH. Kielar C, et al. Among authors: chan ch. Hum Mol Genet. 2009 Nov 1;18(21):4066-80. doi: 10.1093/hmg/ddp355. Epub 2009 Jul 29. Hum Mol Genet. 2009. PMID: 19640925 Free PMC article.

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