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Ruth Elizabeth Williams

Observed names: R Williams, R. E. Williams, R. Williams, R.E Williams, RUTH WILLIAMS, Ruth E Williams, Ruth E. Williams, Ruth Williams, Williams, Ruth, Williams, Ruth E.
Observed institutions: National Health Service, Guy's Hospital, St Thomas' Hospital, University of Helsinki, Guy's and St Thomas' NHS Foundation Trust, Great Ormond Street Hospital, The Royal Free Hospital, Women's and Children's Hospital, MRC Laboratory for Molecular Cell Biology, Kings Health Partners, Evelina London Children's Healthcare, NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London
ORCID: 0000-0002-3501-1354
Observed ORCID: 0000-0002-3501-1354
OpenAlex ID: A5077938334
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
2005 · Sara E. Mole, Ruth E. Williams, et al. · Neurogenetics · 307
Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens
2012 · Yael Hacohen, Sukhvir Wright, et al. · Journal of Neurology Neurosurgery & Psychiatry · 269
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NCL diseases — clinical perspectives
2013 · Angela Schulz, Alfried Kohlschütter, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 246
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New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
2012 · Ruth E. Williams, Sara E. Mole · Neurology · 233
The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein
2002 · Ruth B. Wheeler, Julie D. Sharp, et al. · The American Journal of Human Genetics · 200
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Management Strategies for CLN2 Disease
2017 · Ruth E. Williams, Heather R. Adams, et al. · Pediatric Neurology · 122
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Diagnosis of the neuronal ceroid lipofuscinoses: An update
2006 · Ruth E. Williams, Laura Aberg, et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 122
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Diagnosis of lysosomal storage disorders: evaluation of lysosome-associated membrane protein LAMP-1 as a diagnostic marker
1997 · Peter J Meikle, Doug A Brooks, et al. · Clinical Chemistry · 100
Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview
2022 · Alessandro Simonati, Ruth E. Williams · Frontiers in Neurology · 88
Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis
2003 · Julie D. Sharp, Ruth B. Wheeler, et al. · Human Mutation · 81
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Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis
2009 · Chiara Aiello, Alessandra Terracciano, et al. · Human Mutation · 72
The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy
2012 · ANDREAS BRUNKLAUS, LIAM DORRIS, et al. · Developmental Medicine & Child Neurology · 71
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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients
2021 · Sara E. Mole, Angela Schulz, et al. · Orphanet Journal of Rare Diseases · 64
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Incorporating epilepsy genetics into clinical practice: a 360°evaluation
2018 · Stephanie Oates, Shan Tang, et al. · npj Genomic Medicine · 62
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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
2020 · Shan Tang, Laura Addis, et al. · Epilepsia · 58
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Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
2001 · Wayne A. Mitchell, Ruth B. Wheeler, et al. · European Journal of Paediatric Neurology · 57
Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial
2023 · Natasha E Schoeler, Louise Marston, et al. · The Lancet Neurology · 55
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A New Locus for Variant Late Infantile Neuronal Ceroid Lipofuscinosis—CLN7
1999 · R.B Wheeler, J.D Sharp, et al. · Molecular Genetics and Metabolism · 55
Phenotype and natural history of variant late infantile ceroid‐lipofuscinosis 5
2017 · Alessandro Simonati, Ruth E Williams, et al. · Developmental Medicine & Child Neurology · 43
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Necrotizing Fasciitis
2009 · Stephan J. Froehlich, Carlo A. Lackerbauer, et al. · Springer eBooks · 36
Management of CLN1 Disease: International Clinical Consensus
2021 · Erika F. Augustine, Heather R. Adams, et al. · Pediatric Neurology · 33
The ketogenic diet in childhood epilepsy: where are we now?
2010 · J. H. Cross, A. Mclellan, et al. · Archives of Disease in Childhood · 33
The Neuronal Ceroid Lipofuscinoses
2010 · Sara E. Mole, Sushma Goyal, et al. · Springer eBooks · 26
Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
1993 · R Williams, J Vesa, et al. · PubMed · 25
Ketogenic diet in the treatment of epilepsy in children under the age of 2 years: study protocol for a randomised controlled trial
2017 · Siobhan Titre-Johnson, Natasha Schoeler, et al. · Trials · 24
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Works count: 193
Citation count: 2,722
H-index: 24
I10-index: 36
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