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Brain : a Journal of Neurology|September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathyManju A Kurian, Esther Meyer, Grace Vassallo, et al.Neurology|February 28, 2018
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoyaSara C Tho-Calvi, Dominic Thompson, Dawn Saunders, et al.Developmental Medicine and Child Neurology|June 25, 2013
An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasmsChoong Yi Fong, John P Osborne, Stuart W Edwards, et al.Neuro-Oncology|December 18, 2020
Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institutionClaire Forde, Andrew T King, Scott A Rutherford, et al.American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.Journal of Medical Genetics|June 26, 2024
<i>NF2</i>-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological studyClaire Forde, Miriam J Smith, George J Burghel, et al.Journal of Inherited Metabolic Disease|March 18, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Miao He, Andrew C Edmondson, et al.Neuro-Oncology Advances|April 13, 2023
Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progressionD Gareth Evans, Dorothy Halliday, Rupert Obholzer, et al.Epilepsia|May 30, 2020
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizuresShan Tang, Laura Addis, Anna Smith, et al.JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.Pageof 4