Esther Meyer

Developmental Neurosciences, UCL Great Ormond Street Institute Of Child Health
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 37 publications

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv
Published: February 24, 2025

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Journal: Annals of neurology
Published: February 09, 2024

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 10, 2022

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: April 22, 2021

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: Brain : a journal of neurology
Published: May 15, 2020

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 22, 2019

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.

Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism.

Journal: Science translational medicine
Published: December 07, 2018

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Journal: American journal of human genetics
Published: November 26, 2018

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Journal: Journal of inherited metabolic disease
Published: November 21, 2018

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Journal: Journal of inherited metabolic disease
Published: March 29, 2018

Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.

Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: October 05, 2017

Beta-propeller-associated neurodegeneration can present with dominant or isolated parkinsonism.

Beta-propeller-associated neurodegeneration can present with dominant or isolated parkinsonism.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 06, 2017
Showing 1-12 of 37

Last Updated: 09/26/2026