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- 2018
- A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8
- 2016
- Mitochondria-associated membranes as hubs for neurodegeneration
- A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease
- 2014
- Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
- 2012
- The genetics and neuropathology of frontotemporal lobar degeneration
- 2008
- TNF alpha receptor genotype influences smoking-induced muscle-fibre-type shift and atrophy in mice
- 2007
- Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype
- RAS/RAF pathway activation in gliomas: the result of copy number gains rather than activating mutations
- 2005
- Alpha-chemokine receptors CXCR1-3 and their ligands in idiopathic inflammatory myopathies
- 2004
- Expression and distribution of the nitric oxide synthases in idiopathic inflammatory myopathies