Ruth E. Williams
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 13 publications
Editorial: Neuronal ceroid lipofuscinosis: A multidisciplinary update.
Journal: Frontiers in neurology
Published: October 28, 2022
Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.
Journal: Frontiers in neurology
Published: November 09, 2021
Response to pyridoxine in CACNA1A epilepsy-ataxia does not imply a causal effect.
Journal: Seizure
Published: June 17, 2021
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
Journal: Orphanet journal of rare diseases
Published: October 16, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Journal: Epilepsia
Published: August 07, 2019
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Journal: NPJ genomic medicine
Published: September 06, 2017
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.
Journal: Developmental medicine and child neurology
Published: April 04, 2017
Ketogenic diet therapy in infants less than two years of age for medically refractory epilepsy.
Journal: Seizure
Published: March 29, 2017
CLN8 disease caused by large genomic deletions.
Journal: Molecular genetics & genomic medicine
Published: September 27, 2016
Special issue: molecular basis of the NCLs.
Journal: Biochimica et biophysica acta
Published: June 04, 2013
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.
Journal: Neurology
Published: July 11, 2012
Last Updated: 09/26/2026