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Page 1
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. Among authors: oller ramirez am. 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.
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. Among authors: oller ramirez am. 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.
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Kohan R, Pesaola F, Guelbert N, Pons P, Oller-Ramírez AM, Rautenberg G, Becerra A, Sims K, Xin W, Cismondi IA, Noher de Halac I. Kohan R, et al. Among authors: oller ramirez am. Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2301-11. doi: 10.1016/j.bbadis.2015.05.003. Epub 2015 May 11. Biochim Biophys Acta. 2015. PMID: 25976102 Free article. Review.
[Juvenile form of Sandhoff disease: first case reported in Argentina].
Mugnaini J, Pereyra M, Dodelson de Kremer R, Gamboni B, Argaraña CE, Oller Ramírez AM. Mugnaini J, et al. Among authors: oller ramirez am. Arch Argent Pediatr. 2017 Oct 1;115(5):e298-e301. doi: 10.5546/aap.2017.e298. Arch Argent Pediatr. 2017. PMID: 28895707 Free article. Spanish.
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation).
De Kremer RD, Paschini-Capra A, Bacman S, Argaraña C, Civallero G, Kelley RI, Guelbert N, Latini A, Noher de Halac I, Giner-Ayala A, Johnston J, Proujansky R, Gonzalez I, Depetris-Boldini C, Oller-Ramírez A, Angaroni C, Theaux RA, Hliba E, Juaneda E. De Kremer RD, et al. Am J Med Genet. 2001 Mar 1;99(2):83-93. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1136>3.0.co;2-x. Am J Med Genet. 2001. PMID: 11241464
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