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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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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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Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study

Lancet neurology, 2009, Vol.8 (1), p.57-66

2009

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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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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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Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

Neurobiology of aging, 2015-01, Vol.36 (1), p.546.e1-546.e7

2015

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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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Overexpression of the Hspa13 (Stch) gene reduces prion disease incubation time in mice

Proceedings of the National Academy of Sciences - PNAS, 2012-08, Vol.109 (34), p.13722-13727

2012

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Genetic susceptibility, evolution and the kuru epidemic

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2008-11, Vol.363 (1510), p.3741

2008

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C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

Neurology, 2014-01, Vol.82 (4), p.292

2014

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The genetically programmed down-regulation of lactase in children

Gastroenterology (New York, N.Y. 1943), 1998-06, Vol.114 (6), p.1230-1236

1998

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A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

The New England journal of medicine, 2009-11, Vol.361 (21), p.2056-2065

2009

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Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey

BMJ (Online), 2013-10, Vol.347, p.f5675

2013

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Intolerance to lactose and other dietary sugars

Drug metabolism and disposition, 2001-04, Vol.29 (4 Pt 2), p.513

2001

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Duplication of amyloid precursor protein ( APP ), but not prion protein ( PRNP ) gene is a significant cause of early onset dementia in a large UK series

Neurobiology of aging, 2012-02, Vol.33 (2), p.426.e13-426.e21

2012

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Validation of next-generation sequencing technologies in genetic diagnosis of dementia

Neurobiology of aging, 2014, Vol.35 (1), p.261-265

2014

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Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics

Science (American Association for the Advancement of Science), 2003-04, Vol.300 (5619), p.640-643

2003

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RARE STRUCTURAL GENETIC VARIATION IN HUMAN PRION DISEASES

Journal of neurology, neurosurgery and psychiatry, 2016-12, Vol.87 (12), p.e1-e1

2016

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Rare structural genetic variation in human prion diseases

Neurobiology of aging, 2015-05, Vol.36 (5), p.2004.e1-2004.e8

2015

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Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations

Brain (London, England : 1878), 2006-03, Vol.129 (3), p.676-685

2006

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Inherited prion disease with six octapeptide repeat insertional mutation- : molecular analysis of phenotypic heterogeneity

Brain (London, England : 1878), 2006-09, Vol.129 (Pt 9), p.2297-2317

2006

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Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

Human molecular genetics, 2004-06, Vol.13 (12), p.1219-1224

2004

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Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey

BMJ. British medical journal (International ed.), 2013-10, Vol.347 (7929), p.11

International edition, 2013

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Lactase Haplotype Diversity in the Old World

American journal of human genetics, 2001-01, Vol.68 (1), p.160-172

2001

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Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors

Brain (London, England : 1878), 2011-06, Vol.134 (Pt 6), p.1829-1838

2011

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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

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study

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

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

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

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

Overexpression of the Hspa13 (Stch) gene reduces prion disease incubation time in mice

Genetic susceptibility, evolution and the kuru epidemic

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

The genetically programmed down-regulation of lactase in children

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey

Intolerance to lactose and other dietary sugars

Duplication of amyloid precursor protein ( APP ), but not prion protein ( PRNP ) gene is a significant cause of early onset dementia in a large UK series

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

Balancing Selection at the Prion Protein Gene Consistent with Prehistoric Kurulike Epidemics

RARE STRUCTURAL GENETIC VARIATION IN HUMAN PRION DISEASES

Rare structural genetic variation in human prion diseases

Distinct glycoform ratios of protease resistant prion protein associated with PRNP point mutations

Inherited prion disease with six octapeptide repeat insertional mutation- : molecular analysis of phenotypic heterogeneity

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

Prevalent abnormal prion protein in human appendixes after bovine spongiform encephalopathy epizootic: large scale survey

Lactase Haplotype Diversity in the Old World

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors

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