H. Hummerich

发表

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Manish S. Shah, A. Poustka, D. Church, 1993, Cell.

A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

F. Collins, R. Mott, M. MacDonald, 1993, Nature Genetics.

Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years

J. Collinge, P. Rudge, H. Hummerich, 2015, Brain : a journal of neurology.

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study

J. Collinge, I. Zerr, H. Hummerich, 2016, BMC Medical Genetics.

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.

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

Claudio J. Verzilli, M. Alpers, J. Whittaker, 2009, The Lancet Neurology.

Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport

Yasushi Hiraoka, Christiana Ruhrberg, Holger Hummerich, 2003, Science.

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

R. Orrell, H. Hummerich, K. Morrison, 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Paradigms for the identification of new genes in motor neuron degeneration

H. Hummerich, M. Hafezparast, A. Ahmad-Annuar, 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Huntington’s disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

S. Mead, H. Hummerich, A. Rosser, 2022, bioRxiv.

Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.

R. Mott, H. Lehrach, J. Gusella, 1994, Human molecular genetics.

Population Structure and Migration in the Eastern Highlands of Papua New Guinea; a Region Impacted by the kuru Epidemic

G. Hellenthal, J. Collinge, M. Alpers, 2022, bioRxiv.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Nature Genetics.

Identification of a gene regulatory network associated with prion replication

G. Bloom, J. Collinge, A. Grigoriadis, 2014, The EMBO journal.

Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

M. Simpson, S. Neuhausen, V. Plagnol, 2015, PloS one.

A 500-kb sequence-ready cosmid contig and transcript map of the MEN1 region on 11q13.

N. Hayward, S. Grimmond, P. Little, 1999, Genomics.

Activation of Nuclear Factor-kappa B signalling promotes cellular senescence

R. Medema, H. Hummerich, O. Caballero, 2010, Oncogene.

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2012, Neurology.

Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region

A. Monaco, D. Bentley, D. Paslier, 1992, Nature Genetics.

Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region.

F. Collins, M. MacDonald, J. Gusella, 1992, Genomics.

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

Holger Hummerich, Elizabeth MC Fisher, Sebastian Brandner, 2005, Nature Genetics.

Simultaneous expression of MMB-FOXM1 complex components enables efficient bypass of senescence

L. Litovchick, J. Decaprio, H. Hummerich, 2021, Scientific Reports.

Genetic Analysis of the Cytoplasmic Dynein Subunit Families

E. Fisher, H. Hummerich, E. Fisher, 2006, PLoS genetics.

Regulation of p53 and Rb Links the Alternative NF-κB Pathway to EZH2 Expression and Cell Senescence

S. Cockell, H. Hummerich, N. Perkins, 2014, PLoS genetics.

Genomic anatomy of the Tyrp1 (brown) deletion complex.

Jane Loveland, Jonathan M. Mudge, Jennifer Harrow, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series

Nick C Fox, M. Rossor, C. Mummery, 2018, Molecular Psychiatry.

Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p

M. Lerman, H. Hummerich, F. Latif, 1993, Human Genetics.

A sequence-ready 3-Mb PAC contig covering 16 breakpoints of the Wilms tumor/anirida region of human chromosome 11p13.

M. Gessler, P. Little, S. Boyle, 1998, Genomics.

An integrated genetic, radiation hybrid, physical and transcription map of a region of distal mouse chromosome 12, including an imprinted locus and the 'Legs at odd angles' (Loa) mutation.

E. Fisher, M. Sergot, H. Hummerich, 2002, Gene.

Trinucleotide repeat expansion and human disease

H. Lehrach, H. Hummerich, 1995, Electrophoresis.

HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation.

S. Tabrizi, G. Bates, H. Hummerich, 2014, Brain : a journal of neurology.

Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998

T. Thangarajah, M. Hattori, D. Gerhard, 1999, Cytogenetic and Genome Research.

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

C. Duijn, A. Aguzzi, H. Budka, 2020, The Lancet Neurology.

A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1.

M. Gessler, P. Little, H. Hummerich, 1999, Genome research.

A novel protective prion protein variant that colocalizes with kuru exposure.

Claudio J. Verzilli, Holger Hummerich, Mark Poulter, 2009, The New England journal of medicine.

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

D. Balding, M. Alpers, H. Wichmann, 2012, Human molecular genetics.

HECTD2 Is Associated with Susceptibility to Mouse and Human Prion Disease

M. Alpers, J. Collinge, H. Hummerich, 2009, PLoS genetics.

Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer’s disease

W. M. van der Flier, A. Uitterlinden, R. Redon, 2021, Alzheimer's & dementia : the journal of the Alzheimer's Association.

Rare structural genetic variation in human prion diseases

S. Mead, J. Collinge, I. Zerr, 2015, Neurobiology of Aging.

Genetic susceptibility, evolution and the kuru epidemic

M. Alpers, J. Collinge, H. Hummerich, 2008, Philosophical Transactions of the Royal Society B: Biological Sciences.

Sod1 Deficiency Reduces Incubation Time in Mouse Models of Prion Disease

J. Collinge, H. Hummerich, S. Brandner, 2013, PloS one.

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

J. Collinge, Andrew Tomlinson, H. Hummerich, 2012, Proceedings of the National Academy of Sciences.

A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse

J. Collinge, H. Hummerich, S. Lloyd, 2009, neurogenetics.

Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat

R. Durbin, D. Church, M. MacDonald, 1994, Somatic cell and molecular genetics.

Plasmacytoid Dendritic Cells Sequester High Prion Titres at Early Stages of Prion Infection

J. Collinge, D. Westaway, T. Sweeting, 2012, PLoS pathogens.

Exome sequencing identifies rare damaging variants in the ATP8B4 and ABCA1 genes as novel risk factors for Alzheimer’s Disease

Nick C Fox, Davide, A. Uitterlinden, 2020 .

Exome sequencing identifies novel AD-associated genes.

Nick C Fox, R. Redon, D. Grozeva, 2020, medRxiv.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Genome Medicine.

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

J. Collinge, H. Hummerich, P. Klöhn, 2014, Human molecular genetics.

Inherited mtDNA variations are not strong risk factors in human prion disease

J. Collinge, I. Zerr, P. Chinnery, 2015, Neurobiology of Aging.

Genome-wide association study identifies risk variants for sporadic Creutzfeldt-Jakob disease in STX6 and GAL3ST1

A. Aguzzi, H. Budka, G. Jansen, 2020, medRxiv.

UKCCCR guidelines for the use of cell lines in cancer research

T. Thangarajah, M. Hattori, N. Saitou, 1999, Cytogenetic and Genome Research.

Decapping and Decay of Messenger RNA Occur in Cytoplasmic Processing Bodies

E. Fisher, H. Fuchs, M. Angelis, 2003 .

Rare structural genetic variation in human prion diseases.

S. Mead, J. Collinge, I. Zerr, 2015, Neurobiology of aging.

Exome sequencing identifies three novel AD‐associated genes

W. M. van der Flier, D. Grozeva, R. Sims, 2020 .

Multiomic Analyses Direct Hypotheses for Creutzfeldt-Jakob Disease Risk Genes

K. Sleegers, H. Hummerich, P. Sánchez-Juan, 2024, medRxiv.

Genome wide association study of clinical duration and age at onset of sporadic CJD

J. Collinge, H. Hummerich, P. Sánchez-Juan, 2023, medRxiv.

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

W. M. van der Flier, D. Grozeva, O. Martinaud, 2022, Genome Medicine.