Holger Hummerich
MRC Prion Unit(GB)University College London(GB)Medical Research Council(GB)
Publications by Year
Research Areas
Prion Diseases and Protein Misfolding, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, Trace Elements in Health, Mitochondrial Function and Pathology
Most-Cited Works
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.(1993)
- → Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia(2005)809 cited
- → Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport(2003)682 cited
- → Genetic Analysis of the Cytoplasmic Dynein Subunit Families(2006)313 cited
- → Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat(1994)273 cited
- → Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease(2022)209 cited
- → A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure