Publications by authors named "Ana Maria Oller-Ramirez"

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The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Romina Kohan, Favio Pesaola, Norberto Guelbert, Patricia Pons, Ana María Oller-Ramírez

Biochim Biophys Acta· October 2015

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Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
Inés Adriana Cismondi, Romina Kohan, Heather Adams, Mike Bond, Rachel Brown

Biochim Biophys Acta· October 2015

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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.
Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco

PLoS One· March 2013

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Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
Romina Kohan, María Noelia Carabelos, Winnie Xin, Katherine Sims, Norberto Guelbert

Gene· March 2013

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Novel human pathological mutations. Gene symbol: ABCD1. Disease: X-linked adrenoleukodystrophy.
Cyntia Anabel Amorosi, Helena Treslova, Raquel Dodelson de Kremer, María José Coll, Lenka Dvoráková

Hum Genet· April 2010

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Planning the human variome project: the Spain report.
Jim Kaput, Richard G H Cotton, Lauren Hardman, Michael Watson, Aida I Al Aqeel

Hum Mutat· April 2009

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Gene symbol: IDS. Disease: Mucopolysaccharidosis II.
Ana María Oller Ramirez, María José Coll, Amparo Chabás, Nydia Beatríz Azar, Addy Vanina Ghio

Hum Genet· June 2008

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Gene symbol: IDS. Disease: Hunter syndrome.
Ana María Oller Ramirez, María José Coll, Amparo Chabás, Nydia Beatríz Azar, Addy Vanina Ghio

Hum Genet· June 2008

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Recommendations of the 2006 Human Variome Project meeting.
Richard G H Cotton, , William Appelbe, Arleen D Auerbach, Kevin Becker

Nat Genet· April 2007

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Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: implications of molecular diagnosis in Argentina.
Ana María Oller Ramírez, María D Ramos, Javier Jiménez, Addy Ghio, Myrna Melano de Botelli

Mol Genet Metab· April 2006

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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.
Romina Kohan, Inés Noher de Halac, Verónica Tapia Anzolini, Adriana Cismondi, Ana María Oller Ramírez

Clin Biochem· May 2005

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