Henry Houlden

Research interests

Publications

• The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

  Nature Genetics · 2023 · https://doi.org/10.1038/s41588-023-01323-z

• Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

  Nature Genetics · 2020 · https://doi.org/10.1038/s41588-020-00725-7

• Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

  Nature Genetics · 2019 · https://doi.org/10.1038/s41588-019-0372-4

• Germline selection shapes human mitochondrial DNA diversity

  Science · 2019 · https://doi.org/10.1126/science.aau6520

• Spinocerebellar ataxia: an update

  Journal of Neurology · 2018 · https://doi.org/10.1007/s00415-018-9076-4

• Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3043

• Clinical implications of genetic advances in Charcot–Marie–Tooth disease

  Nature Reviews Neurology · 2013 · https://doi.org/10.1038/nrneurol.2013.179

• α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?

  Acta Neuropathologica · 2013 · https://doi.org/10.1007/s00401-013-1096-7

• Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

  The Lancet Neurology · 2012 · https://doi.org/10.1016/s1474-4422(12)70043-1

• Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

  The American Journal of Human Genetics · 2012 · https://doi.org/10.1016/j.ajhg.2012.10.019

• Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

  Journal of Neurology Neurosurgery & Psychiatry · 2012 · https://doi.org/10.1136/jnnp-2012-302451

• Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

  Nature Communications · 2011 · https://doi.org/10.1038/ncomms1453

• Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

  Journal of Biological Chemistry · 2010 · https://doi.org/10.1074/jbc.m109.092973

• Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

  Brain · 2009 · 10.1093/brain/awp044

• Genome-wide association study reveals genetic risk underlying Parkinson's disease

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.487

• A common polymorphism in the brain‐derived neurotrophic factor gene ( BDNF ) modulates human cortical plasticity and the response to rTMS

  The Journal of Physiology · 2008 · https://doi.org/10.1113/jphysiol.2008.159905

• Characterization of PLA2G6 as a locus for dystonia‐parkinsonism

  Annals of Neurology · 2008 · https://doi.org/10.1002/ana.21415

• Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

  PLoS Genetics · 2007 · https://doi.org/10.1371/journal.pgen.0030108

• Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

  Neurology · 2001 · https://doi.org/10.1212/wnl.56.12.1702

• Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy

  Human Molecular Genetics · 1999 · https://doi.org/10.1093/hmg/8.4.711

• A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

  Nature Medicine · 1998 · https://doi.org/10.1038/nm0498-452

• Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

  Nature · 1998 · https://doi.org/10.1038/31508

• The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

  Nature Genetics · 1995 · https://doi.org/10.1038/ng1095-219

• A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

  Nature Genetics · 1992 · https://doi.org/10.1038/ng0892-345

• Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene

  Nature · 1991 · 10.1038/353844a0

Current projects

No projects listed.