L. Darwent

发表

Estimation of the number of inherited prion disease mutation carriers in the UK

J. Collinge, P. Rudge, S. Mead, 2022, European Journal of Human Genetics.

Prion protein monoclonal antibody (PRN100) therapy for Creutzfeldt–Jakob disease: evaluation of a first-in-human treatment programme

J. Collinge, V. Libri, P. Rudge, 2022, The Lancet Neurology.

DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt–Jakob disease

J. Collinge, H. Hummerich, J. Linehan, 2022, Acta Neuropathologica.

DNA methylation analysis of archival lymphoreticular tissues in Creutzfeldt-Jakob disease and the prevalence of vCJD infection in the UK

S. Mead, J. Collinge, H. Hummerich, 2022, medRxiv.

Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease

J. Collinge, S. Mead, A. Green, 2021, BMC Neurology.

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Sonja W. Scholz, John D. Eicher, D. Hernandez, 2018, The Lancet Neurology.

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

W. M. van der Flier, D. Hernandez, M. Nalls, 2014, Human molecular genetics.

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases

Michelle K. Lupton, W. M. van der Flier, D. Hernandez, 2016, Neurobiology of Aging.

The application of a PCR based species identification method to African wildlife

L. Darwent, 2012 .

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

A. Singleton, P. Holmans, R. Guerreiro, 2015, Human molecular genetics.

Prion protein gene mutation detection using long-read Nanopore sequencing

J. Collinge, S. Mead, E. Viré, 2022, Scientific Reports.

Heritability and genetic variance of dementia with Lewy bodies

Sonja W. Scholz, John D. Eicher, D. Hernandez, 2018, Neurobiology of Disease.

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

J. Hardy, R. Guerreiro, J. Bras, 2015, American journal of human genetics.

LRP10 in α-synucleinopathies

D. Hernandez, J. Morris, J. Trojanowski, 2018, The Lancet Neurology.

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

Nicholas W. Wood, Thomas Gasser, John Hardy, 2015, Neurology: Genetics.

Investigating the genetic architecture of Dementia with Lewy bodies: a genome-wide association study

Sonja W. Scholz, D. Hernandez, A. Singleton, 2018 .

Trajectories of neurodegeneration and seed amplification biomarkers prior to disease onset in individuals at risk of prion disease

J. Collinge, B. Caughey, J. Rohrer, 2022, medRxiv.

A comprehensive screening of copy number variability in dementia with Lewy bodies

Sonja W. Scholz, John D. Eicher, D. Hernandez, 2019, Neurobiology of Aging.

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation

J. Molinuevo, S. Mead, R. Guerreiro, 2016, Neurobiology of Aging.

Atypical Parkinsonism‐Dystonia Syndrome Caused by a Novel DJ1 Mutation

J. Hardy, R. Guerreiro, S. Schneider, 2014, Movement disorders clinical practice.

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

D. Hernandez, A. Singleton, J. Morris, 2020, Acta Neuropathologica Communications.

Seed amplification and neurodegeneration marker trajectories in individuals at risk of prion disease

J. Schott, J. Collinge, B. Caughey, 2023, Brain : a journal of neurology.

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

R. Guerreiro, J. Alroy, J. Bras, 2016, Journal of neuroscience research.