Karen A. Pysden
Leeds, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 17 publications
Transdermal clonidine patch use in the management of childhood hypertonia: a cross-sectional UK-wide service evaluation.
Journal: Archives of disease in childhood
Published: September 13, 2025
Endocrine and Bone Monitoring in Boys with Duchenne Muscular Dystrophy; Do we adhere to the standards of care?
Journal: Journal of neuromuscular diseases
Published: November 06, 2023
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: October 01, 2023
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Journal: Brain : a journal of neurology
Published: January 13, 2022
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
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
Journal: Neuromuscular disorders : NMD
Published: April 26, 2020
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.
Journal: Journal of clinical immunology
Published: September 05, 2018
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation.
Journal: Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
Published: July 13, 2017
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Journal: Pediatric neurology
Published: August 04, 2016
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
Journal: Journal of medical genetics
Published: March 18, 2016
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Journal: American journal of human genetics
Published: January 28, 2016
The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status.
Journal: Developmental medicine and child neurology
Published: January 09, 2016
Last Updated: 09/26/2026