Juan D. Escobar-Ortigoza
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 107 publications
Genotype-Driven MRI Re-evaluation Reveals Subtle PAFAH1B1-Related Lissencephaly.
Journal: Journal of child neurology
Published: August 27, 2026
Kinesin Light Chain 1-Related Spastic-Dystonic Tetraparesis into Adulthood.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 19, 2026
Effects of a Mitochondrial Genetic Variant on Sevoflurane Hypersensitivity.
Journal: Anesthesiology
Published: May 12, 2026
Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.
Journal: Annals of neurology
Published: April 22, 2026
Clinical telemonitoring and telerehabilitation of cognition in rare neurological diseases: a scoping review.
Journal: Journal of neurology
Published: April 14, 2026
Outcome measurement in GNAO1-related disorder: Balancing global severity and domain-specific change.
Outcome measurement in GNAO1-related disorder: Balancing global severity and domain-specific change.
Journal: Developmental medicine and child neurology
Published: March 25, 2026
Deep Learning Pose Estimation for Phenotyping of Co-Occurring Hyperkinetic Movement Disorders.
Journal: Annals of clinical and translational neurology
Published: March 18, 2026
Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation.
Journal: European journal of human genetics : EJHG
Published: February 10, 2026
ARPE-19-A Stable Cell Line Expressing a Variant of Unknown Significance in the NPC1 Gene.
Journal: Genes
Published: January 16, 2026
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.
Journal: American journal of human genetics
Published: December 11, 2025
Severity-Based and Family-Centered Approaches to Deep Brain Stimulation in GNAO1-Related Disorders.
Journal: Movement disorders clinical practice
Published: November 18, 2025
Building on European Reference Network for Rare Neurological Diseases (ERN-RND) Experience: Integrating Motor and Non-Motor Assessment in Pediatric Movement Disorders.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: November 18, 2025
Last Updated: 09/26/2026