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Hugo David

5PUBLICATIONS
15CO-AUTHORS
Cellular nervous systemRegenerative medicine (incl. stem cells)Neurology and neuromuscular diseasesMedical biochemistry - lipids
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Journal

Publications (5)

Sort by Publication Date:
|Nov 27, 2024
Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann-Pick Type C Disease.

Hugo David, Jlenia Monfregola, Isaura Ribeiro

|Mar 28, 2024
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients.

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira

|Nov 25, 2023
Challenges in the Definitive Diagnosis of Niemann-Pick Type C-Leaky Variants and Alternative Transcripts.

Marisa Encarnação, Isaura Ribeiro, Hugo David

|Oct 28, 2023
MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C.

Marisa Encarnação, Hugo David, Maria Francisca Coutinho

|May 16, 2023
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.

Sofia Carvalho, Juliana Inês Santos, Luciana Moreira

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Frequent Collaborators

5 joint publications

Marisa Encarnação

5 joint publications

Sandra Alves

5 joint publications

Maria Francisca Coutinho

2 joint publications

Mariana Gonçalves

1 joint publications

Isaura Ribeiro

1 joint publications

Ana Joana Duarte

1 joint publications

Paulo Gaspar

1 joint publications

Hugo Rocha

1 joint publications

Diogo Ribeiro

1 joint publications

Matilde Barbosa Almeida

Frequent Collaborators

5 joint publications

Marisa Encarnação

5 joint publications

Sandra Alves

5 joint publications

Maria Francisca Coutinho

2 joint publications

Mariana Gonçalves

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