Concepedia

Alba Tristán‐Noguero

AT

Statistics

Publications

6

Citations

180

H-Index

6

Active since

2013

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Universitat de Barcelona

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Bellvitge University Hospital

Alba Tristán‐Noguero is an author at Hospital Sant Joan de Déu Barcelona specializing in life sciences, clinical proteomics, and exome sequencing.

ORCID

Publications per year

2013–2024

6

Publications

6

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

Claudio Toma, Bàrbara Torrico, Amaia Hervás et al. · Molecular Psychiatry · 2013 · 124 citations · Full text

, , +15

iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

Alba Tristán‐Noguero, Irene Fernández‐Carasa, Carles Calatayud et al. · EMBO Molecular Medicine · 2023 · 14 citations · Full text

, , +17

Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

Alba Tristán‐Noguero, Eva Borràs, Marta Molero-Luís et al. · Movement Disorders · 2020 · 12 citations

, , +17

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

Alba Tristán‐Noguero, Héctor Díez, Cristina Jou et al. · Metabolic Brain Disease · 2015 · 10 citations

, , +16

Tetrahydrobiopterin (<scp>BH<sub>4</sub></scp>) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model

Kunwar Jung‐KC, Alba Tristán‐Noguero, Altanchimeg Altankhuyag et al. · Journal of Inherited Metabolic Disease · 2024 · 10 citations · Full text

, , +17

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