The heritability and genetics of frontotemporal lobar degeneration

Jonathan D. Rohrer, Rita Guerreiro, Jana Vandrovcová, +15

Neurology

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

Colin Mahoney, Jon Beck, Jonathan D. Rohrer, +13

Brain

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

Jon Beck, Mark Poulter, Davina J. Hensman Moss, +24

The American Journal of Human Genetics

Neurodegenerative DiseasesGenetic DisorderGeneticsMultiple Neurodegenerative SyndromesDegenerative Disease +5

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series

Natalie S. Ryan, Jennifer M. Nicholas, Philip S.J. Weston, +13

The Lancet Neurology

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

Jon Beck, Jonathan D. Rohrer, T. Campbell, +14

Brain

Neurological DisorderGeneticsPathologyDisease Gene IdentificationClinical Genetics +15

<i>C9orf72</i> expansions are the most common genetic cause of Huntington disease phenocopies

Davina J. Hensman Moss, Mark Poulter, Jon Beck, +12

Neurology

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

Simon Mead, Jerome Whitfield, Mark Poulter, +11

New England Journal of Medicine

A Novel Prion Disease Associated with Diarrhea and Autonomic Neuropathy

Simon Mead, Sonia Gandhi, Jon Beck, +22

New England Journal of Medicine

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Pietro Fratta, Mark Poulter, Tammaryn Lashley, +16

Acta Neuropathologica

Longitudinal neuroimaging and neuropsychological profiles of frontotemporal dementia with C9ORF72 expansions

Colin Mahoney, Laura Downey, Gerard R. Ridgway, +11

Alzheimer s Research & Therapy