Amaia Lasa-Aranzasti

7PUBLICATIONS
62CO-AUTHORS
Neurology and neuromuscular diseasesCentral nervous systemEpigenetics (incl. genome methylation and epigenomics)MechanobiologyNeurogenetics
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Publications (7)

|Jul 17, 2026
NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

|Feb 20, 2025
A Systematic Review of Cognitive and Behavioural Symptoms in CTNNB1 Syndrome.

Mercè Pallarès-Sastre, Imanol Amayra, Monika Salgueiro

|Jul 23, 2024
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.

Lorraine Glennie, Marta Codina Solà, Mar Xunclà

|Jul 03, 2024
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Vicken Totten, Gisela Teixido-Tura, Fermina Lopez-Grondona

|Jun 17, 2024
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Amaia Lasa-Aranzasti, Yonika A Larasati, Juliana da Silva Cardoso

|Jul 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.

Hellen Lesmann, Alexander Hustinx, Shahida Moosa

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Frequent Collaborators

3 joint publications

Belén Pérez-Dueñas

2 joint publications

Vladimir L Katanaev

1 joint publications

Shahida Moosa

1 joint publications

Hannah Klinkhammer