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Page 1
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: guelbert n. Curr Pharm Biotechnol. 2011 Jun;12(6):867-83. doi: 10.2174/138920111795542633. Curr Pharm Biotechnol. 2011. PMID: 21235444 Free PMC article. Review.
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: guelbert n. 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
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: guelbert n. 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.
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: guelbert n. 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.
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
Lourenço CM, Pessoa A, Mendes CC, Rivera-Nieto C, Vergara D, Troncoso M, Gardner E, Mallorens F, Tavera L, Lizcano LA, Atanacio N, Guelbert N, Specola N, Mancilla N, de Souza CFM, Mole SE. Lourenço CM, et al. Among authors: guelbert n. J Paediatr Child Health. 2021 Apr;57(4):519-525. doi: 10.1111/jpc.15250. Epub 2020 Dec 30. J Paediatr Child Health. 2021. PMID: 33377563 Free PMC article.
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Mole SE, Schulz A, Badoe E, Berkovic SF, de Los Reyes EC, Dulz S, Gissen P, Guelbert N, Lourenco CM, Mason HL, Mink JW, Murphy N, Nickel M, Olaya JE, Scarpa M, Scheffer IE, Simonati A, Specchio N, Von Löbbecke I, Wang RY, Williams RE. Mole SE, et al. Among authors: guelbert n. Orphanet J Rare Dis. 2021 Apr 21;16(1):185. doi: 10.1186/s13023-021-01813-5. Orphanet J Rare Dis. 2021. PMID: 33882967 Free PMC article.
Management Strategies for CLN2 Disease.
Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A. Williams RE, et al. Among authors: guelbert n. Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. Pediatr Neurol. 2017. PMID: 28335910 Free article. Review.
47 results