Maria I. Vanegas

Guy's & St Thomas' NHS Trust
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 11 publications

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK.

Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK.

Journal: EClinicalMedicine

Published: September 24, 2025

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

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

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 03, 2025

Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.

Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.

Journal: Neuromuscular disorders : NMD

Published: October 09, 2024

Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.

Approach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.

Journal: Movement disorders clinical practice

Published: August 26, 2024

Targeted Treatments for Myasthenia Gravis in Children and Adolescents.

Targeted Treatments for Myasthenia Gravis in Children and Adolescents.

Journal: Paediatric drugs

Published: August 04, 2024

Child Neurology: Common Occurrence of Narcolepsy Type 1 and Myasthenia Gravis.

Child Neurology: Common Occurrence of Narcolepsy Type 1 and Myasthenia Gravis.

Journal: Neurology

Published: July 08, 2024

Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1.

Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1.

Journal: Neuromuscular disorders : NMD

Published: June 07, 2024

Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.

Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.

Journal: Neuromuscular disorders : NMD

Published: March 28, 2024

Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.

Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.

Journal: The Lancet regional health. Europe

Published: September 26, 2023

Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.

Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.

Journal: Neuromuscular disorders : NMD

Published: July 11, 2023

Early recognition of SGCE-myoclonus-dystonia in children.

Early recognition of SGCE-myoclonus-dystonia in children.

Journal: Developmental medicine and child neurology

Published: November 30, 2021

Showing 1-11 of 11

Last Updated: 09/26/2026