Juan Dario-Ortigoza-Escobar

45PUBLICATIONS
201CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesEpidemiological modellingGastroenterology and hepatologyMedical robotics
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Publications (45)

|Oct 08, 2026
Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

|Sep 30, 2026
International recommendations for child to adult care transition in rare neurological diseases: A scoping review and Delphi consensus study.

|Sep 22, 2026
A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels.

|Jul 27, 2026
Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.

|Jul 25, 2026
Deep Learning Pose Estimation for Phenotyping of Co-Occurring Hyperkinetic Movement Disorders.

|Apr 17, 2026
Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.

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Frequent Collaborators

7 joint publications

Jana Domínguez-Carral

5 joint publications

Darius Ebrahimi-Fakhari

5 joint publications

Henry Houlden

5 joint publications

Loreto Martorell