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Special issue: molecular basis of the NCLs.
Mole SE, Williams RE, Cooper JD. Mole SE, et al. Among authors: cooper jd. Biochim Biophys Acta. 2013 Nov;1832(11):1793-4. doi: 10.1016/j.bbadis.2013.05.025. Epub 2013 May 29. Biochim Biophys Acta. 2013. PMID: 23727410 Free article. No abstract available.
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Cismondi IA, Kohan R, Adams H, Bond M, Brown R, Cooper JD, de Hidalgo PK, Holthaus SM, Mole SE, Mugnaini J, de Ramirez AM, Pesaola F, Rautenberg G, Platt FM, Noher de Halac I. Cismondi IA, et al. Among authors: cooper jd. Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2316-23. doi: 10.1016/j.bbadis.2015.06.018. Epub 2015 Jun 24. Biochim Biophys Acta. 2015. PMID: 26117801 Free article.
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Fietz M, et al. Among authors: cooper jd. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25. Mol Genet Metab. 2016. PMID: 27553878 Free article.
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M. Smith KR, et al. Among authors: cooper jd. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297359 Free PMC article.
Pathomechanisms in the neuronal ceroid lipofuscinoses.
Nelvagal HR, Lange J, Takahashi K, Tarczyluk-Wells MA, Cooper JD. Nelvagal HR, et al. Among authors: cooper jd. Biochim Biophys Acta Mol Basis Dis. 2020 Sep 1;1866(9):165570. doi: 10.1016/j.bbadis.2019.165570. Epub 2019 Oct 31. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31678162 Free article. Review.
833 results