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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. 

Nat Commun
Published

Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis.

Authors
Daniel Jutzi, Sébastien Campagne, Ralf Schmidt, Stefan Reber, Jonas Mechtersheimer, Foivos Gypas, Christoph Schweingruber, Martino Colombo, Christine von Schroetter, Fionna E Loughlin, Anny Devoy, Eva Hedlund, Mihaela Zavolan, Frédéric H-T Allain, Marc-David Ruepp
Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis.
Nat Commun
Published

Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis.

Authors
Daniel Jutzi, Sébastien Campagne, Ralf Schmidt, Stefan Reber, Jonas Mechtersheimer, Foivos Gypas, Christoph Schweingruber, Martino Colombo, Christine von Schroetter, Fionna E Loughlin, Anny Devoy, Eva Hedlund, Mihaela Zavolan, Frédéric H-T Allain, Marc-David Ruepp
Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis.
Nat Commun
Published

Cerebral small vessel disease genomics and its implications across the lifespan.

Authors
Muralidharan Sargurupremraj, Hideaki Suzuki, Xueqiu Jian, Chloé Sarnowski, Tavia E Evans, Joshua C Bis, Gudny Eiriksdottir, Saori Sakaue, Natalie Terzikhan, Mohamad Habes, Wei Zhao, Nicola J Armstrong, Edith Hofer, Lisa R Yanek, Saskia P Hagenaars, Rajan B Kumar, Erik B van den Akker, Rebekah E McWhirter, Stella Trompet, Aniket Mishra, Yasaman Saba, Claudia L Satizabal, Gregory Beaudet, Laurent Petit, Ami Tsuchida, Laure Zago, Sabrina Schilling, Sigurdur Sigurdsson, Rebecca F Gottesman, Cora E Lewis, Neelum T Aggarwal, Oscar L Lopez, Jennifer A Smith, Maria C Valdés Hernández, Jeroen van der Grond, Margaret J Wright, Maria J Knol, Marcus Dörr, Russell J Thomson, Constance Bordes, Quentin Le Grand, Marie-Gabrielle Duperron, Albert V Smith, David S Knopman, Pamela J Schreiner, Denis A Evans, Jerome I Rotter, Alexa S Beiser, Susana Muñoz Maniega, Marian Beekman, Julian Trollor, David J Stott, Meike W Vernooij, Katharina Wittfeld, Wiro J Niessen, Aicha Soumaré, Eric Boerwinkle, Stephen Sidney, Stephen T Turner, Gail Davies, Anbupalam Thalamuthu, Uwe Völker, Mark A van Buchem, R Nick Bryan, Josée Dupuis, Mark E Bastin, David Ames, Alexander Teumer, Philippe Amouyel, John B Kwok, Robin Bülow, Ian J Deary, Peter R Schofield, Henry Brodaty, Jiyang Jiang, Yasuharu Tabara, Kazuya Setoh, Susumu Miyamoto, Kazumichi Yoshida, Manabu Nagata, Yoichiro Kamatani, Fumihiko Matsuda, Bruce M Psaty, David A Bennett, Philip L De Jager, Thomas H Mosley, Perminder S Sachdev, Reinhold Schmidt, Helen R Warren, Evangelos Evangelou, David-Alexandre Trégouët, , , Mohammad A Ikram, Wei Wen, Charles DeCarli, Velandai K Srikanth, J Wouter Jukema, Eline P Slagboom, Sharon L R Kardia, Yukinori Okada, Bernard Mazoyer, Joanna M Wardlaw, Paul A Nyquist, Karen A Mather, Hans J Grabe, Helena Schmidt, Cornelia M Van Duijn, Vilmundur Gudnason, William T Longstreth, Lenore J Launer, Mark Lathrop, Sudha Seshadri, Christophe Tzourio, Hieab H Adams, Paul M Matthews, Myriam Fornage, Stéphanie Debette
Cerebral small vessel disease genomics and its implications across the lifespan.
Mol Psychiatry
Published

Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.

Authors
Charles Arber, Jamie Toombs, Christopher Lovejoy, Natalie S Ryan, Ross W Paterson, Nanet Willumsen, Eleni Gkanatsiou, Erik Portelius, Kaj Blennow, Amanda Heslegrave, Jonathan M Schott, John Hardy, Tammaryn Lashley, Nick C Fox, Henrik Zetterberg, Selina Wray
Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.
J Clin Invest
Published

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.

Authors
Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna-Leigh Brown, Sarah E Hill, Jennifer M Kachergus, J Shi, Michael G Heckman, Matthew R Spiegel, Casey Cook, Yuping Song, Mei Yue, Lillian M Daughrity, Yari Carlomagno, Karen Jansen-West, Cristhoper Fernandez de Castro, Michael DeTure, Shunsuke Koga, Ying-Chih Wang, Prasanth Sivakumar, Cristian Bodo, Ana Candalija, Kevin Talbot, Bhuvaneish T Selvaraj, Karen Burr, Siddharthan Chandran, Jia Newcombe, Tammaryn Lashley, Isabel Hubbard, Demetra Catalano, Duyang Kim, Nadia Propp, Samantha Fennessey, Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth Mc Fisher, Björn Oskarsson, Marka van Blitterswijk, Rosa Rademakers, Neil R Graff-Radford, Bradley F Boeve, David S Knopman, Ronald C Petersen, Keith A Josephs, E Aubrey Thompson, Towfique Raj, Michael Ward, Dennis W Dickson, Tania F Gendron, Pietro Fratta, Leonard Petrucelli
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
J Clin Invest
Published

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.

Authors
Mercedes Prudencio, Jack Humphrey, Sarah Pickles, Anna-Leigh Brown, Sarah E Hill, Jennifer M Kachergus, J Shi, Michael G Heckman, Matthew R Spiegel, Casey Cook, Yuping Song, Mei Yue, Lillian M Daughrity, Yari Carlomagno, Karen Jansen-West, Cristhoper Fernandez de Castro, Michael DeTure, Shunsuke Koga, Ying-Chih Wang, Prasanth Sivakumar, Cristian Bodo, Ana Candalija, Kevin Talbot, Bhuvaneish T Selvaraj, Karen Burr, Siddharthan Chandran, Jia Newcombe, Tammaryn Lashley, Isabel Hubbard, Demetra Catalano, Duyang Kim, Nadia Propp, Samantha Fennessey, , Delphine Fagegaltier, Hemali Phatnani, Maria Secrier, Elizabeth Mc Fisher, Björn Oskarsson, Marka van Blitterswijk, Rosa Rademakers, Neil R Graff-Radford, Bradley F Boeve, David S Knopman, Ronald C Petersen, Keith A Josephs, E Aubrey Thompson, Towfique Raj, Michael Ward, Dennis W Dickson, Tania F Gendron, Pietro Fratta, Leonard Petrucelli
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Lancet Neurol
Published

Potential human transmission of amyloid β pathology: surveillance and risks.

Authors
Elsa Lauwers, Giovanna Lalli, Sebastian Brandner, John Collinge, Veerle Compernolle, Charles Duyckaerts, Gustaf Edgren, Stéphane Haïk, John Hardy, Adel Helmy, Adrian J Ivinson, Zane Jaunmuktane, Mathias Jucker, Richard Knight, Robin Lemmens, I-Chun Lin, Seth Love, Simon Mead, V Hugh Perry, James Pickett, Guy Poppy, Sheena E Radford, Frederic Rousseau, Carol Routledge, Giampietro Schiavo, Joost Schymkowitz, Dennis J Selkoe, Colin Smith, Dietmar R Thal, Tom Theys, Pierre Tiberghien, Peter van den Burg, Philippe Vandekerckhove, Clare Walton, Hans L Zaaijer, Henrik Zetterberg, Bart De Strooper
Potential human transmission of amyloid β pathology: surveillance and risks.
Lancet Neurol
Published

Potential human transmission of amyloid β pathology: surveillance and risks.

Authors
Elsa Lauwers, Giovanna Lalli, Sebastian Brandner, John Collinge, Veerle Compernolle, Charles Duyckaerts, Gustaf Edgren, Stéphane Haïk, John Hardy, Adel Helmy, Adrian J Ivinson, Zane Jaunmuktane, Mathias Jucker, Richard Knight, Robin Lemmens, I-Chun Lin, Seth Love, Simon Mead, V Hugh Perry, James Pickett, Guy Poppy, Sheena E Radford, Frederic Rousseau, Carol Routledge, Giampietro Schiavo, Joost Schymkowitz, Dennis J Selkoe, Colin Smith, Dietmar R Thal, Tom Theys, Pierre Tiberghien, Peter van den Burg, Philippe Vandekerckhove, Clare Walton, Hans L Zaaijer, Henrik Zetterberg, Bart De Strooper
Potential human transmission of amyloid β pathology: surveillance and risks.