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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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The Future of Seed Amplification Assays and Clinical Trials

Frontiers in aging neuroscience, 2022-06, Vol.14, p.872629-872629

2022

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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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Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes

Neurology, 2016-05, Vol.86 (18), p.1736-1743

2016

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Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia

Neurology, 2016-09, Vol.87 (13), p.1329-1336

2016

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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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The Intractable Puzzle of Sporadic Creutzfeldt-Jakob Disease in Very Young People

Neurology, 2021-10, Vol.97 (17), p.801-802

Mead, Simon

2021

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Prion protein gene mutation detection using long-read Nanopore sequencing

Scientific reports, 2022-05, Vol.12 (1), p.8284-8284, Article 8284

2022

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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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Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS

PLoS biology, 2020-06, Vol.18 (6), p.e3000725-e3000725

2020

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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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The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature

PloS one, 2018-01, Vol.13 (1), p.e0190818-e0190818

2018

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A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

Nature communications, 2020-08, Vol.11 (1), p.3960-3960, Article 3960

2020

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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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Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interference

PLoS pathogens, 2021-10, Vol.17 (10), p.e1010013-e1010013

2021

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

BMC neurology, 2021-06, Vol.21 (1), p.248-248, Article 248

2021

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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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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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Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease

JAMA neurology, 2016-04, Vol.73 (4), p.447

2016

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The Medical Research Council Prion Disease Rating Scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies

Brain (London, England : 1878), 2013-04, Vol.136 (Pt 4), p.1116-1127

2013

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Genetic Factors in Mammalian Prion Diseases

The Future of Seed Amplification Assays and Clinical Trials

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

Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes

Serum neurofilament light chain protein is a measure of disease intensity in frontotemporal dementia

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

Age at onset in genetic prion disease and the design of preventive clinical trials

The Intractable Puzzle of Sporadic Creutzfeldt-Jakob Disease in Very Young People

Prion protein gene mutation detection using long-read Nanopore sequencing

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

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

Spontaneous generation of prions and transmissible PrP amyloid in a humanised transgenic mouse model of A117V GSS

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

The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature

A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interference

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

Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease

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

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

Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease

The Medical Research Council Prion Disease Rating Scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies

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