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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: noher de halac i. 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.
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: noher de halac i. 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.
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: noher de halac i. 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.
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: noher de halac i. 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.
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. Among authors: noher de halac i. Clin Biochem. 2005 May;38(5):492-4. doi: 10.1016/j.clinbiochem.2004.12.007. Clin Biochem. 2005. PMID: 15820783 No abstract available.
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. Among authors: noher de halac i. 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
12 results