Olga Amaral - Dissemin

All papers authored by Olga Amaral

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2020 Olga Amaral

Novel tools in cell and molecular biology: induced pluripotent stem cells in the field of lysosomal storage disorders (invited speaker)

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2019 Renato Santos

, Olga Amaral

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy

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Olga Amaral

iPSCs Disease Models and CRISPR/Cas Editing

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Olga Amaral

Gaucher Disease and iPSCs: what does the future hold?

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Olga Amaral

Not missing a rare disease: a matter of resilience and persistence

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Ineke Labrijn-Marks, Galhana M. Somers-Bolman, Stijn L. M. In ’t Groen, Marianne Hoogeveen-Westerveld, Marian A. Kroos, Sirpa Ala-Mello, Olga Amaral

, Clara sa Miranda, Irene Mavridou, Helen Michelakakis, Karin Naess, Frans W. Verheijen, Lies H. Hoefsloot, Trijnie Dijkhuizen, Marloes Benjamins and 5 other authors

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

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Olga Amaral

DESVENDAR “DEScobrir, VENcer as Doenças rARas"

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2018 Ana Duarte, Diogo Ribeiro, Luciana Moreira

, Olga Amaral

In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses

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Liliana Matos, Ana Joana Duarte, Diogo Ribeiro, João Chaves, Olga Amaral

, Sandra Alves

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy

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2017 Olga Amaral

Gene editing in Lysosomal Diseases

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Olga Amaral

"Rare diseases-open your heart and keep an open mind"

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Olga Amaral

Difficulties in establishing iPSCs from scratch

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Olga Amaral

Induced pluripotent stem cells as genetic disease models

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Ana Joana Duarte, Diogo Ribeiro, Pedro Oliveira, Olga Amaral

Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?

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Olga Amaral

To CRISPR or Not to CRISPR

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2016 Olga Amaral

Oficina dos Genes

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Olga Amaral

Foreseen accomplishments through precision cellular and molecular biology

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Olga Amaral

Lysosomal storage diseases in Portugal: 10 years of experience in molecular studies at National Health Institute (2006-2016)

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Olga Amaral

Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways: Paving the path for better understanding of IEM.

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Olga Amaral

Development of RNA based approaches to exploit alternative therapies for Lysosomal Storage Diseases

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All papers authored by Olga Amaral