Ana María Oller Ramírez

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, L Hardman et al. · Human Mutation · 2009 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

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 María Oller Ramírez et al. · PLoS ONE · 2012 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 et al. · Clinical Biochemistry · 2005 · 28 citations

Dentistry, Pathology, Proteomics +9

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 et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2015 · 24 citations · Full text

Life Sciences, Neuroscience, Science Education +10

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myšková, Mariela R. Monti et al. · PLoS ONE · 2012 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16