Ruth E. Williams

发表

Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview

A. Simonati, Ruth E. Williams, 2022, Frontiers in Neurology.

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

H. Goebel, S. Mole, Ruth E. Williams, 2005, Neurogenetics.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

S. Topp, M. Simpson, P. Fallon, 2020, Epilepsia.

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

I. Scheffer, J. Mink, S. Berkovic, 2020, Orphanet Journal of Rare Diseases.

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

N. Freemantle, I. Nazareth, P. Fallon, 2017, Trials.

Phenotype and natural history of variant late infantile ceroid‐lipofuscinosis 5

N. Nardocci, F. Santorelli, R. Battini, 2017, Developmental medicine and child neurology.

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

S. Mole, Ruth E. Williams, 2012, Neurology.

Management of CLN1 Disease: International Clinical Consensus.

J. Mink, E. Wirrell, M. Topcu, 2021, Pediatric neurology.

CLN8 disease caused by large genomic deletions

R. Guerreiro, J. Bras, A. Taratuto, 2016, Molecular genetics & genomic medicine.

NCL diseases - clinical perspectives.

J. Mink, A. Simonati, A. Kohlschütter, 2013, Biochimica et biophysica acta.

Exclusion Mapping of Classical Late Infantile Neuronal Ceroid Lipofuscinosis (Jansky-Bielschowsky Disease, CLN2)

L. Peltonen, H. Eiberg, I. Järvelä, 1995, European Journal of Human Genetics.

Diagnosis of the neuronal ceroid lipofuscinoses: an update.

T. Autti, H. Goebel, T. Lönnqvist, 2006, Biochimica et biophysica acta.

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

S. Mole, R. Gardiner, R. Wheeler, 2003, Human mutation.

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

R. Schultz, S. Mole, J. Joslin, 2002, American journal of human genetics.

Management Strategies for CLN2 Disease.

J. Mink, J. Denecke, S. Mikhaylova, 2017, Pediatric neurology.

Accepted Manuscript Management strategies for CLN 2 disease

Miriam, Meral, J. Mink, 2017 .

Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297))

P. Munroe, F. Andermann, Y. Crow, 1998 .

Mutations in MFSD8/CLN7 are a frequent cause of variant‐late infantile neuronal ceroid lipofuscinosis

R. Boldrini, E. Bertini, R. Carrozzo, 2009, Human mutation.

Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2

P. Gissen, Laura Lee, Ruth E. Williams, 2023, Brain sciences.

The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy

I. Scheffer, R. Appleton, M. King, 2013, Developmental medicine and child neurology.

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

R. Rosch, R. Møller, D. Pal, 2018, npj Genomic Medicine.

Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens

P. Fallon, H. Cross, A. Vincent, 2012, Journal of Neurology, Neurosurgery & Psychiatry.

Ketogenic diet therapy in infants less than two years of age for medically refractory epilepsy

Martin Smith, N. Ismayilova, Ruth E. Williams, 2018, Seizure.

Genome‐wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug‐resistant epilepsy

Jonathan M. Mudge, Josemir W Sander, I. Scheffer, 2018, Epilepsia.

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

P. Munroe, F. Andermann, Y. Crow, 1998, Human molecular genetics.

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

L. Peltonen, I. Järvelä, M. Gardiner, 1994, American journal of human genetics.

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

L. Peltonen, I. Järvelä, B. Lake, 1997, Human molecular genetics.

Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

M. Fox, B. Lake, R. Gardiner, 1999, Molecular genetics and metabolism.

Nonalcoholic Fatty Liver

J. Utikal, S. Goerdt, M. Zeviani, 2018 .

Intracerebroventricular Cerliponase Alfa (BMN 190) in Children with CLN2 Disease: Interim Results from a Phase 1/2, Open-Label, Dose-Escalation Study

P. Gissen, N. Specchio, A. Schulz, 2016 .

Response to pyridoxine in CACNA1A epilepsy-ataxia does not imply a causal effect

D. Pal, Ruth E. Williams, 2021, Seizure.

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

A. Lehesjoki, S. Mole, W. Mitchell, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Analysis of candidate genes in the CLN6 using in silico cloning critical region

R. Schultz, S. Mole, J. Joslin, 2001 .