Katy S. Barwick

Barrack Road
Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 27 publications

An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.

An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.

Journal: iScience
Published: December 30, 2024

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

Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.

Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.

Journal: bioRxiv : the preprint server for biology
Published: September 25, 2023

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.

Journal: Brain : a journal of neurology
Published: July 06, 2023

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.

Journal: Cells
Published: January 30, 2023

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.

Journal: Neurology
Published: July 12, 2022

Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.

Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: June 21, 2022

Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.

Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.

Journal: Epigenomics
Published: May 04, 2022

STXBP1 Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy.

STXBP1 Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy.

Journal: Movement disorders clinical practice
Published: April 27, 2022

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 Phenotypic Continuum of ATP1A3-Related Disorders.

The Phenotypic Continuum of ATP1A3-Related Disorders.

Journal: Neurology
Published: December 13, 2021

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
Showing 1-12 of 27

Last Updated: 09/26/2026