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Publications

Our scientific output and findings

From groundbreaking discoveries in basic science to innovative clinical insights, our publications showcase the breadth and depth of research taking place at the UK DRI. 

Neurobiol Aging
Published

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Authors
Soragia Athina Gkazi, Claire Troakes, Simon Topp, Jack W Miller, Caroline A Vance, Jemeen Sreedharan, Ammar Al-Chalabi, Janine Kirby, Pamela J Shaw, Safa Al-Sarraj, Andrew King, Bradley N Smith, Christopher E Shaw
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
Alzheimers Res Ther
Published

Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.

Authors
Ione O C Woollacott, Jennifer M Nicholas, Amanda Heslegrave, Carolin Heller, Martha S Foiani, Katrina M Dick, Lucy L Russell, Ross W Paterson, Ashvini Keshavan, Nick C Fox, Jason D Warren, Jonathan M Schott, Henrik Zetterberg, Jonathan D Rohrer
Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.
Alzheimers Res Ther
Published

Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.

Authors
Ione O C Woollacott, Jennifer M Nicholas, Amanda Heslegrave, Carolin Heller, Martha S Foiani, Katrina M Dick, Lucy L Russell, Ross W Paterson, Ashvini Keshavan, Nick C Fox, Jason D Warren, Jonathan M Schott, Henrik Zetterberg, Jonathan D Rohrer
Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup.
Brain
Published

Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.

Authors
Frances K Wiseman, Laura J Pulford, Chris Barkus, Fan Liao, Erik Portelius, Robin Webb, Lucia Chávez-Gutiérrez, Karen Cleverley, Sue Noy, Olivia Sheppard, Toby Collins, Caroline Powell, Claire J Sarell, Matthew Rickman, Xun Choong, Justin L Tosh, Carlos Siganporia, Heather T Whittaker, Floy Stewart, Maria Szaruga, , Michael P Murphy, Kaj Blennow, Bart de Strooper, Henrik Zetterberg, David Bannerman, David M Holtzman, Victor L J Tybulewicz, Elizabeth M C Fisher,
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.
PLoS One
Published

Health management and pattern analysis of daily living activities of people with dementia using in-home sensors and machine learning techniques.

Authors
Shirin Enshaeifar, Ahmed Zoha, Andreas Markides, Severin Skillman, Sahr Thomas Acton, Tarek Elsaleh, Masoud Hassanpour, Alireza Ahrabian, Mark Kenny, Stuart Klein, Helen Rostill, Ramin Nilforooshan, Payam Barnaghi
Health management and pattern analysis of daily living activities of people with dementia using in-home sensors and machine learning techniques.
Brain
Published

Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.

Authors
Frances K Wiseman, Laura J Pulford, Chris Barkus, Fan Liao, Erik Portelius, Robin Webb, Lucia Chávez-Gutiérrez, Karen Cleverley, Sue Noy, Olivia Sheppard, Toby Collins, Caroline Powell, Claire J Sarell, Matthew Rickman, Xun Choong, Justin L Tosh, Carlos Siganporia, Heather T Whittaker, Floy Stewart, Maria Szaruga, Michael P Murphy, Kaj Blennow, Bart de Strooper, Henrik Zetterberg, David Bannerman, David M Holtzman, Victor L J Tybulewicz, Elizabeth M C Fisher
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP.
Neurobiol Aging
Published

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

Authors
Martina de Majo, Simon D Topp, Bradley N Smith, Agnes L Nishimura, Han-Jou Chen, Athina Soragia Gkazi, Jack Miller, Chun Hao Wong, Caroline Vance, Frank Baas, Anneloor L M A Ten Asbroek, Kevin P Kenna, Nicola Ticozzi, Alberto Garcia Redondo, Jesús Esteban-Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Karen E Morrison, Pamela J Shaw, Janine Kirby, Martin R Turner, Kevin Talbot, Orla Hardiman, Jonathan D Glass, Jacqueline de Belleroche, Cinzia Gellera, Antonia Ratti, Ammar Al-Chalabi, Robert H Brown, Vincenzo Silani, John E Landers, Christopher E Shaw
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.