Juliana Inês Santos

1PUBLICATIONS
11CO-AUTHORS
Neurology and neuromuscular diseases
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Publications (1)

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|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

1 joint publications

Marisa Encarnação

1 joint publications

Maria Francisca Coutinho

1 joint publications

Soo Min Cho

1 joint publications

Maria Teresa Cardoso

1 joint publications

Isaura Ribeiro

1 joint publications

Paulo Chaves

1 joint publications

Dulce Quelhas

1 joint publications

Lúcia Lacerda

1 joint publications

Elisa Leão Teles

1 joint publications

Laura Vilarinho

Frequent Collaborators

1 joint publications

Marisa Encarnação

1 joint publications

Maria Francisca Coutinho

1 joint publications

Soo Min Cho

1 joint publications

Maria Teresa Cardoso

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