Lucy Dougherty-de Miguel

6PUBLICATIONS
69CO-AUTHORS
Neurology and neuromuscular diseasesMedical genetics (excl. cancer genetics)Gene and molecular therapyClinical pharmacy and pharmacy practice
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Publications (6)

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

|Jun 25, 2026
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

|Aug 29, 2025
Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.

Ainara Salazar-Villacorta, Ana Cazurro-Gutiérrez, Lucy Dougherty-de Miguel

|Apr 12, 2025
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

Elena Martín-Hernández, Marcello Bellusci, Patricia Pérez-Mohand

|Mar 15, 2025
Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.

María I Vanegas, Anna Marcé-Grau, Ana Cazurro-Gutiérrez

|Sep 09, 2022
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

Elena Martín-Hernández, Pilar Quijada-Fraile, Patricia Correcher

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Frequent Collaborators

3 joint publications

Anna Marcé-Grau

3 joint publications

Javier Blasco-Alonso

3 joint publications

Delia Barrio-Carreras

3 joint publications

Maria-Luz Couce