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Isaura Ribeiro

2PUBLICATIONS

12CO-AUTHORS

Neurology and neuromuscular diseases

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Publications (2)

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|Nov 25, 2023

Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Marisa Encarnação, Isaura Ribeiro, Hugo David

|Sep 15, 2020

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann-Pick type C patient.

Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho

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Frequent Collaborators

2 joint publications

Marisa Encarnação

2 joint publications

Maria Francisca Coutinho

2 joint publications

Sandra Alves

1 joint publications

Soo Min Cho

1 joint publications

Maria Teresa Cardoso

1 joint publications

Paulo Chaves

1 joint publications

Juliana Inês Santos

1 joint publications

Dulce Quelhas

1 joint publications

Lúcia Lacerda

1 joint publications

Elisa Leão Teles

Frequent Collaborators

2 joint publications

Marisa Encarnação

2 joint publications

Maria Francisca Coutinho

2 joint publications

Sandra Alves

1 joint publications

Soo Min Cho

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