Helen Mccullagh

Leeds, ENG LS74SA, United Kingdom

Last Updated: 09/26/2026

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Found 13 publications

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 13, 2025

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Journal: Clinical genetics

Published: April 04, 2025

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 07, 2024

Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.

Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial.

Journal: The Lancet. Neurology

Published: June 26, 2023

Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.

Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.

Journal: The Lancet. Child & adolescent health

Published: May 08, 2021

PedsQL Score Post Encephalo-duro-arterio-myo-synangiosis Procedure for Moyamoya Disease: A Single Center Experience.

PedsQL Score Post Encephalo-duro-arterio-myo-synangiosis Procedure for Moyamoya Disease: A Single Center Experience.

Journal: World neurosurgery

Published: July 06, 2020

Surgical Disconnection of a Residual Pediatric Pial Arterio-Venous Fistula Following Partial Embolization: A Case Study.

Surgical Disconnection of a Residual Pediatric Pial Arterio-Venous Fistula Following Partial Embolization: A Case Study.

Journal: World neurosurgery

Published: February 08, 2020

Delayed mid-basilar artery stenosis following paediatric acute mechanical thrombectomy: a rare complication from a rare case.

Delayed mid-basilar artery stenosis following paediatric acute mechanical thrombectomy: a rare complication from a rare case.

Journal: BMJ case reports

Published: August 05, 2019

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 09, 2019

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.

Journal: Neuropediatrics

Published: December 19, 2017

Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.

Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.

Journal: Neurology

Published: June 12, 2017

Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial.

Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial.

Journal: Trials

Published: October 27, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026