Anna Maria Cueto-González

9PUBLICATIONS
216CO-AUTHORS
Neurology and neuromuscular diseasesPredictive and prognostic markersGene and molecular therapyAdolescent healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

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

|Jun 12, 2026
A progeria syndrome links DNA hypermethylation to age-related pathology.

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Oct 01, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Liselot van der Laan, Karim Karimi, Kathleen Rooney

|Apr 30, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro

|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara

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Frequent Collaborators

3 joint publications

Irene Valenzuela

2 joint publications

Jordi Leno-Colorado

2 joint publications

Benjamin Cogné

2 joint publications

Antonio Vitobello