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Genetic Factors in Mammalian Prion Diseases

Annual review of genetics, 2019-12, Vol.53 (1), p.117-147

2019

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Genetic risk factors for Creutzfeldt-Jakob disease

Neurobiology of disease, 2020-08, Vol.142, p.104973-104973, Article 104973

2020

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Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

Neuropathology and applied neurobiology, 2015-12, Vol.41 (7), p.858-881

2015

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Review: Fluid biomarkers in the human prion diseases

Molecular and cellular neuroscience, 2019-06, Vol.97, p.81-92

2019

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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

American journal of human genetics, 2020-11, Vol.107 (5), p.802-814

2020

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Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura

Annals of neurology, 2019-02, Vol.85 (2), p.284-290

2019

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A naturally occurring variant of the human prion protein completely prevents prion disease

Nature (London), 2015-06, Vol.522 (7557), p.478-481

2015

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Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases

Scientific reports, 2021-03, Vol.11 (1), p.5231-5231, Article 5231

2021

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Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

American journal of human genetics, 2013-03, Vol.92 (3), p.345-353

2013

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Detection of Creutzfeldt-Jakob disease prions in skin: implications for healthcare

Genome medicine, 2018-03, Vol.10 (1), p.22-3, Article 22

2018

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Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease

Alzheimer's research & therapy, 2019-02, Vol.11 (1), p.19-19, Article 19

2019

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Syntaxin-6 delays prion protein fibril formation and prolongs the presence of toxic aggregation intermediates

eLife, 2024-08, Vol.13

2024

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Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6

Neurobiology of disease, 2024-01, Vol.190, p.106363-106363, Article 106363

2024

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Acta neuropathologica, 2013-09, Vol.126 (3), p.401-409

2013

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Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation

Brain (London, England : 1878), 2012-02, Vol.135 (2), p.e209-e209

2012

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Diagnosing Sporadic Creutzfeldt-Jakob Disease by the Detection of Abnormal Prion Protein in Patient Urine

JAMA neurology, 2016-12, Vol.73 (12), p.1454

2016

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Safe laboratory management of prions and proteopathic seeds

Lancet neurology, 2021-12, Vol.20 (12), p.981-981

2021

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Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

Human molecular genetics, 2012-04, Vol.21 (8), p.1897-1906

2012

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Recent US Case of Variant Creutzfeldt-Jakob Disease-Global Implications

Emerging infectious diseases, 2015-05, Vol.21 (5), p.750-759

2015

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In vitro screen of prion disease susceptibility genes using the scrapie cell assay

Human molecular genetics, 2014-10, Vol.23 (19), p.5102-5108

2014

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ApoE4 lowers age at onset in patients with frontotemporal dementia and tauopathy independent of amyloid-β copathology

Alzheimer's & dementia : diagnosis, assessment & disease monitoring, 2019-12, Vol.11 (1), p.277-280

2019

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PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

Human mutation, 2010-07, Vol.31 (7), p.E1551-E1563

2010

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Behavioral and Psychiatric Symptoms in Prion Disease

The American journal of psychiatry, 2014-03, Vol.171 (3), p.265-274

2014

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Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

Acta neuropathologica communications, 2022-09, Vol.10 (1), p.141-3, Article 141

2022

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A clinical study of kuru patients with long incubation periods at the end of the epidemic in Papua New Guinea

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2008-11, Vol.363 (1510), p.3725-3739

2008

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Genetic Factors in Mammalian Prion Diseases

Genetic risk factors for Creutzfeldt-Jakob disease

Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

Review: Fluid biomarkers in the human prion diseases

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura

A naturally occurring variant of the human prion protein completely prevents prion disease

Bank vole prion protein extends the use of RT-QuIC assays to detect prions in a range of inherited prion diseases

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Detection of Creutzfeldt-Jakob disease prions in skin: implications for healthcare

Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease

Syntaxin-6 delays prion protein fibril formation and prolongs the presence of toxic aggregation intermediates

Characterisation and prion transmission study in mice with genetic reduction of sporadic Creutzfeldt-Jakob disease risk gene Stx6

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation

Diagnosing Sporadic Creutzfeldt-Jakob Disease by the Detection of Abnormal Prion Protein in Patient Urine

Safe laboratory management of prions and proteopathic seeds

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

Recent US Case of Variant Creutzfeldt-Jakob Disease-Global Implications

In vitro screen of prion disease susceptibility genes using the scrapie cell assay

ApoE4 lowers age at onset in patients with frontotemporal dementia and tauopathy independent of amyloid-β copathology

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

Behavioral and Psychiatric Symptoms in Prion Disease

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia

A clinical study of kuru patients with long incubation periods at the end of the epidemic in Papua New Guinea

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