Actas de Congresos LCN 2013-2022

• Pesaola F, Cismondi IA, Guelbert N, Kohan R, Carabelos MN, Alonso G, Pons P, Oller-Ramirez AM, Noher de Halac I (2013) A novel CLN8 missense mutation underlies variant
late infantile neuronal ceroid lipofuscinosis in South America. J Inherit Metab Dis 36(Suppl 2):S91–S342.

• Kohan R, Cismondi IA, Guelbert N, Carabelos MN, Pesaola F, Pons P, Alonso G, Dodelsonde Kremer R, Oller-Ramirez AM, Noher de Halac I (2013) Translational program onNeuronal Ceroid Lipofuscinoses (NCLS): a model 10-years experience on rare diseasestudies in latin America. J Inherit Metab Dis 36 (Suppl 2):S91–S342.

• F. Pesaola, I. A. Cismondi, N. Guelbert, R. Kohan, M. N. Carabelos, G. Alonso, P. Pons, A.M. Oller-Ramirez, I. Noher de Halac (2013) A Novel CLN8 Mutation Underlies a LateInfantile Variant of Neuronal Ceroid Lipofuscinosis in Latin America. Journal of InbornErrors of Metabolism & Screening 1: DOI: 10.1177/2326409813511871.
• R. Kohan, I. A. Cismondi, N. Guelbert, M. N. Carabelos, F. Pesaola, P. Pons, G. Alonso, R.Dodelson de Kremer, A. M. Oller-Ramirez, I. Noher de Halac (2013) TranslationalProgram on Neuronal Ceroid Lipofuscinoses in Latin America as a Model Experience on Rare Disease Studies. Journal of Inborn Errors of Metabolism & Screening 1: DOI:10.1177/2326409813511871.

• Pesaola F, Cismondi IA, Guelbert N, Kohan R, Carabelos MN, Alonso G, Pons P, Oller-Ramirez AM, Noher de Halac I (2014) A novel CLN8 missense mutation underlies variant
late infantile Neuronal Ceroid Lipofuscinosis in South America. Medicina 74 (Supl. II).

• Guelbert N, Cismondi IA, Pesaola F, Pons P, Alonso G, Dodelson de Kremer R, Oller-Ramirez AM, Sims K, Kohan R, Noher de Halac I (2014) Translational research experience
in Argentina: the study program for Neuronal Ceroid Lipofuscinosis (NCL). Medicina 74(Supl. II).

• Pesaola, F, Guelbert, N, Cismondi, I, Becerra, A, Pons, P, Rautenberg, G, Oller-Ramírez,A, Kohan, R, Noher de Halac, I. (2015) Standardization of TPP1 Assays for TestingNeuronal Ceroid Lipofuscinosis LCN2 Disease. Journal of Inborn Errors of Metabolism &Screening January - 3:2326409815613261, first published on November 19,2015doi:10.1177/2326409815613261.

• Pesaola, F, Cismondi, I, Pons, P, Guelbert, N, Becerra, A, Xin, W, Kohan, R, Rautenberg,G, Oller-Ramírez, A, Noher de Halac, I. (2015) Congenital CLN8 Neuronal CeroidLipofuscinosis Disease: A New Phenotype? Journal of Inborn Errors of Metabolism &Screening - 3:2326409815613261, first published on November 19,2015doi:10.1177/2326409815613261.

• Cismondi, I, Kohan, R, Pesaola, F, Guelbert, N, Becerra, A, Rautenberg, G, Oller-ramírez,A, Noher De Halac, I. (2015) Advances to Improve Scientific Knowledge and Practice onRare Diseases Into Higher Education in Latin América. Journal of Inborn Errors of Metabolism & Screening - doi:10.1177/2326409815613261.

• Pesaola, F, Quassollo, G, Remedi, M, Noher de Halac, I, Bisbal, M. (2016) CLN8p isinvolved in spatial distribution of lysosomes. J Inherit Metab Dis 39 (Suppl 1): S208. DOI10.1007/s10545-016-9969-2.• Pesaola, F, Quassollo, G, Noher de Halac, I, Bisbal, M (2017) CLN8 Deficiency ImpairsDendritic Development in Hippocampal Neuronal Model. Journal of Inborn Errors ofMetabolism & Screening 5 (Supl I):1-413. Doi 10.1177/23264098 I 7722292.

• Cismondi I, Kohan R, Pesaola F, Becerra A, Guelbert N, Noher de Halac I (2017) Variantsof Late Infantile (LI) Neuronal Ceroid Lipofuscinosis in Argentina. Journal of Inborn Errorsof Metabolism & Screening 5 (Supl I):1-413. DOI 10.1177/23264098 I 7722292.

• Pesaola F, Cismondi IA, Becerra A, Leyes CA, Venier AC, Guelbert N, Noher de Halac I(2018) Early DNA screening by WES diminishes the diagnostic delay of CLN6- disease inArgentina. J Inherit Metab Dis 41 (Suppl 1):S37-S219. DOI: 10.1007/s10545-018-0233-9.

• Pesaola F, Noher de Halac I, Bisbal, M (2018) CLN8 deficiency alters the motility oflysosomes in hippocampal neuronal model. J Inherit Metab Dis 41 (Suppl 1):S37-S219.DOI: 10.1007/s10545-018-0233-9.