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, Romina, Carabelos, María Noelia, Xin, Winnie, Sims, Katherine, Guelbert, Norberto, Cismondi, Inés Adriana, Pons, Patricia, Alonso, Graciela Irene, Troncoso, Mónica, Witting, Scarlet, Pearce, David A., Dodelson de Kremer, Raquel, Oller-Ramírez, Ana María, Noher de Halac, Inés
Published in Gene (01.03.2013)
Published in Gene (01.03.2013)
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Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview
Guelbert, Guillermo, Venier, Ana Clara, Cismondi, Ines Adriana, Becerra, Adriana, Vazquez, Juan Carlos, Fernández, Elmer Andrés, De Paul, Ana Lucía, Guelbert, Norberto, Noher, Ines, Pesaola, Favio
Published in Frontiers in neurology (12.08.2022)
Published in Frontiers in neurology (12.08.2022)
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The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina
Kohan, Romina, Pesaola, Favio, Guelbert, Norberto, Pons, Patricia, Oller-Ramírez, Ana María, Rautenberg, Gisela, Becerra, Adriana, Sims, Katherine, Xin, Winnie, Cismondi, Inés Adriana, de Halac, Inés Noher
Published in Biochimica et biophysica acta (01.10.2015)
Published in Biochimica et biophysica acta (01.10.2015)
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Journal Article
Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder
Cismondi, Inés Adriana, Kohan, Romina, Adams, Heather, Bond, Mike, Brown, Rachel, Cooper, Jonathan D., de Hidalgo, Perla K., Holthaus, Sophia-Martha Kleine, Mole, Sara E., Mugnaini, Julia, de Ramirez, Ana María Oller, Pesaola, Favio, Rautenberg, Gisela, Platt, Frances M., de Halac, Inés Noher
Published in Biochimica et biophysica acta (01.10.2015)
Published in Biochimica et biophysica acta (01.10.2015)
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Journal Article
“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era
Pesaola, Favio, Guelbert, Guillermo, Venier, Ana Clara, Cismondi, Inés Adriana, Becerra, Adriana, Vazquez, Juan Carlos G., Fernandez, Elmer, De Paul, Ana Lucia, Guelbert, Norberto, Noher, Inés
Published in Journal of inborn errors of metabolism and screening (2021)
Published in Journal of inborn errors of metabolism and screening (2021)
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