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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. 

NPJ Parkinson's disease
Published

Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing

Authors
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B Makarious, Jinhui Ding, J Raphael Gibbs, Anni Moore, Xylena Reed, Mike A Nalls, Syed Shah, Medhat Mahmoud, Fritz J Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing
The Lancet. Neurology
Published

Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study

Authors
Leonard H van den Berg, Jeffrey D Rothstein, Pamela J Shaw, Suma Babu, Michael Benatar, Robert C Bucelli, Angela Genge, Jonathan D Glass, Orla Hardiman, Vincenzo Libri, Theodore Mobach, Björn Oskarsson, Gary L Pattee, John Ravits, Christopher E Shaw, Markus Weber, Lorne Zinman, Paymaan Jafar-Nejad, Frank Rigo, Luan Lin, Toby A Ferguson, Anthony L Gotter, Danielle Graham, Michael Monine, Jennifer Inra, Susie Sinks, Satish Eraly, Steve Garafalo, Stephanie Fradette
Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: a phase 1, randomised, double blinded, placebo-controlled, multiple ascending dose study
NPJ Parkinsons Dis
Published

Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.

Authors
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B Makarious, Jinhui Ding, J Raphael Gibbs, Anni Moore, Xylena Reed, Mike A Nalls, Syed Shah, Medhat Mahmoud, Fritz J Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Bradford Casey, Mina Ryten, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
Alzheimer's research & therapy
Published

Plasma neurofilament light, glial fibrillary acid protein, and phosphorylated tau 181 as biomarkers for neuropsychiatric symptoms and related clinical disease progression

Authors
Miriam Rabl, Leonardo Zullo, Piotr Lewczuk, Johannes Kornhuber, Thomas K Karikari, Kaj Blennow, Henrik Zetterberg, Francesco Bavato, Boris B Quednow, Erich Seifritz, Armin von Gunten, Christopher Clark, Julius Popp
Plasma neurofilament light, glial fibrillary acid protein, and phosphorylated tau 181 as biomarkers for neuropsychiatric symptoms and related clinical disease progression
Nature structural & molecular biology
Published

Poised PABP-RNA hubs implement signal-dependent mRNA decay in development

Authors
Miha Modic, Klara Kuret, Sebastian Steinhauser, Rupert Faraway, Emiel van Genderen, Igor Ruiz de Los Mozos, Jona Novljan, Žiga Vičič, Flora C Y Lee, Derk Ten Berge, Nicholas M Luscombe, Jernej Ule
Poised PABP-RNA hubs implement signal-dependent mRNA decay in development
Stroke
Published

Plasma Brain-Derived Tau in Prognosis of Large Vessel Occlusion Ischemic Stroke

Authors
Ricardo Varela, Fernando Gonzalez-Ortiz, Alexandre Dias, Nicoló Luca Knuth, Joana Fonte, Beatriz Pinto, Idil Yuksekel, Vasco Abreu, Isabel Silva, Liliana Igreja, Joana Lopes, José Silva, Rafael Dias, João Pedro Filipe, Maria João Malaquias, Ana Moutinho, Denis Gabriel, Ana Aires, Rui Antunes, José Pedro Rocha, Rui Felgueiras, Ricardo Almendra, Pedro Castro, Henrik Zetterberg, Rui Magalhães, Thomas K Karikari, Manuel Correia, Kaj Blennow, Luís F Maia
Plasma Brain-Derived Tau in Prognosis of Large Vessel Occlusion Ischemic Stroke
Brain communications
Published

Plasma pTau181 and pTau217 predict asymptomatic amyloid accumulation equally well as amyloid PET

Authors
Steffi De Meyer, Jolien M Schaeverbeke, Emma S Luckett, Mariska Reinartz, Elena R Blujdea, Isabelle Cleynen, Patrick Dupont, Koen Van Laere, Jeroen Vanbrabant, Erik Stoops, Eugeen Vanmechelen, Guglielmo di Molfetta, Henrik Zetterberg, Nicholas J Ashton, Charlotte E Teunissen, Koen Poesen, Rik Vandenberghe
Plasma pTau181 and pTau217 predict asymptomatic amyloid accumulation equally well as amyloid PET
Alzheimer's & dementia (Amsterdam, Netherlands)
Published

Association of enlarged perivascular spaces with cognitive function in dementia-free older adults: A population-based study

Authors
Mingqing Zhao, Yuanjing Li, Xiaodong Han, Chunyan Li, Pin Wang, Jiafeng Wang, Tingting Hou, Yongxiang Wang, Lin Cong, Joanna M Wardlaw, Lenore J Launer, Lin Song, Yifeng Du, Chengxuan Qiu
Association of enlarged perivascular spaces with cognitive function in dementia-free older adults: A population-based study
PLoS biology
Published

Selective suppression of oligodendrocyte-derived amyloid beta rescues neuronal dysfunction in Alzheimer's disease

Authors
Rikesh M Rajani, Robert Ellingford, Mariam Hellmuth, Samuel S Harris, Orjona S Taso, David Graykowski, Francesca Kar Wey Lam, Charles Arber, Emre Fertan, John S H Danial, Matthew Swire, Marcus Lloyd, Tatiana A Giovannucci, Mathieu Bourdenx, David Klenerman, Robert Vassar, Selina Wray, Carlo Sala Frigerio, Marc Aurel Busche
Selective suppression of oligodendrocyte-derived amyloid beta rescues neuronal dysfunction in Alzheimer's disease
PLoS Biol
Published

Selective suppression of oligodendrocyte-derived amyloid beta rescues neuronal dysfunction in Alzheimer's disease.

Authors
Rikesh M Rajani, Robert Ellingford, Mariam Hellmuth, Samuel S Harris, Orjona S Taso, David Graykowski, Francesca Kar Wey Lam, Charles Arber, Emre Fertan, John S H Danial, Matthew Swire, Marcus Lloyd, Tatiana A Giovannucci, Mathieu Bourdenx, David Klenerman, Robert Vassar, Selina Wray, Carlo Sala Frigerio, Marc Aurel Busche
Selective suppression of oligodendrocyte-derived amyloid beta rescues neuronal dysfunction in Alzheimer's disease.
Journal of neurology
Published

18F-Flortaucipir (AV1451) imaging identifies grey matter atrophy in retired athletes

Authors
Anna Vasilevskaya, Chloe Anastassiadis, Simrika Thapa, Foad Taghdiri, Mozhgan Khodadadi, Namita Multani, Pablo Rusjan, Miracle Ozzoude, Apameh Tarazi, Asma Mushtaque, Richard Wennberg, Sylvain Houle, Robin Green, Brenda Colella, Neil Vasdev, Kaj Blennow, Henrik Zetterberg, Thomas Karikari, Christine Sato, Danielle Moreno, Ekaterina Rogaeva, David Mikulis, Karen Deborah Davis, Charles Tator, Maria Carmela Tartaglia
18F-Flortaucipir (AV1451) imaging identifies grey matter atrophy in retired athletes
Alzheimer's research & therapy
Published

Hormone therapy is associated with lower Alzheimer's disease tau biomarkers in post-menopausal females -evidence from two independent cohorts

Authors
Yi-Ting Wang, Joseph Therriault, Cécile Tissot, Stijn Servaes, Nesrine Rahmouni, Arthur Cassa Macedo, Jaime Fernandez-Arias, Sulantha S Mathotaarachchi, Jenna Stevenson, Firoza Z Lussier, Andréa L Benedet, Tharick A Pascoal, Nicholas J Ashton, Henrik Zetterberg, Kaj Blennow, Serge Gauthier, Pedro Rosa-Neto
Hormone therapy is associated with lower Alzheimer's disease tau biomarkers in post-menopausal females -evidence from two independent cohorts
Epilepsia
Published

Elevated plasma neurofilament light and glial fibrillary acidic protein in epilepsy versus nonepileptic seizures and nonepileptic disorders

Authors
Hannah Dobson, Said Al Maawali, Charles Malpas, Alexander F Santillo, Matthew Kang, Marian Todaro, Rosie Watson, Nawaf Yassi, Kaj Blennow, Henrik Zetterberg, Emma Foster, Andrew Neal, Dennis Velakoulis, Terence John O'Brien, Dhamidhu Eratne, Patrick Kwan
Elevated plasma neurofilament light and glial fibrillary acidic protein in epilepsy versus nonepileptic seizures and nonepileptic disorders