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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: kohan r. 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.
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI. Kohan R, et al. Curr Pharm Biotechnol. 2011 Jun;12(6):867-83. doi: 10.2174/138920111795542633. Curr Pharm Biotechnol. 2011. PMID: 21235444 Free PMC article. Review.
Palmitoyl Protein Thioesterase1 (PPT1) and Tripeptidyl Peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses.
Kohan R, Noher de Halac I, Tapia Anzolini V, Cismondi A, Oller Ramírez AM, Paschini Capra A, de Kremer RD. Kohan R, et al. Clin Biochem. 2005 May;38(5):492-4. doi: 10.1016/j.clinbiochem.2004.12.007. Clin Biochem. 2005. PMID: 15820783 No abstract available.
Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM, Noher de Halac I. Kohan R, et al. Gene. 2013 Mar 1;516(1):114-21. doi: 10.1016/j.gene.2012.12.058. Epub 2012 Dec 22. Gene. 2013. PMID: 23266810 Free PMC article.
123 results