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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 Parkinsons Dis
Published
Early deficits in an in vitro striatal microcircuit model carrying the Parkinson's GBA-N370S mutation.
Authors
Quyen B Do, Humaira Noor, Ricardo Marquez-Gomez, Kaitlyn M L Cramb, Bryan Ng, Ajantha Abbey, Naroa Ibarra-Aizpurua, Maria Claudia Caiazza, Parnaz Sharifi, Charmaine Lang, Dayne Beccano-Kelly, Jimena Baleriola, Nora Bengoa-Vergniory, Richard Wade-Martins
Early deficits in an in vitro striatal microcircuit model carrying the Parkinson's GBA-N370S mutation.
NPJ Parkinsons Dis
Published
Early deficits in an in vitro striatal microcircuit model carrying the Parkinson's GBA-N370S mutation.
Authors
Quyen B Do, Humaira Noor, Ricardo Marquez-Gomez, Kaitlyn M L Cramb, Bryan Ng, Ajantha Abbey, Naroa Ibarra-Aizpurua, Maria Claudia Caiazza, Parnaz Sharifi, Charmaine Lang, Dayne Beccano-Kelly, Jimena Baleriola, Nora Bengoa-Vergniory, Richard Wade-Martins
Early deficits in an in vitro striatal microcircuit model carrying the Parkinson's GBA-N370S mutation.
Nat Neurosci
Published
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Authors
Carmelo Milioto, Mireia Carcolé, Ashling Giblin, Rachel Coneys, Olivia Attrebi, Mhoriam Ahmed, Samuel S Harris, Byung Il Lee, Mengke Yang, Robert A Ellingford, Raja S Nirujogi, Daniel Biggs, Sally Salomonsson, Matteo Zanovello, Paula de Oliveira, Eszter Katona, Idoia Glaria, Alla Mikheenko, Bethany Geary, Evan Udine, Deniz Vaizoglu, Sharifah Anoar, Khrisha Jotangiya, Gerard Crowley, Demelza M Smeeth, Mirjam L Adams, Teresa Niccoli, Rosa Rademakers, Marka van Blitterswijk, Anny Devoy, Soyon Hong, Linda Partridge, Alyssa N Coyne, Pietro Fratta, Dario R Alessi, Ben Davies, Marc Aurel Busche, Linda Greensmith, Elizabeth M C Fisher, Adrian M Isaacs
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Nat Neurosci
Published
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Authors
Carmelo Milioto, Mireia Carcolé, Ashling Giblin, Rachel Coneys, Olivia Attrebi, Mhoriam Ahmed, Samuel S Harris, Byung Il Lee, Mengke Yang, Robert A Ellingford, Raja S Nirujogi, Daniel Biggs, Sally Salomonsson, Matteo Zanovello, Paula de Oliveira, Eszter Katona, Idoia Glaria, Alla Mikheenko, Bethany Geary, Evan Udine, Deniz Vaizoglu, Sharifah Anoar, Khrisha Jotangiya, Gerard Crowley, Demelza M Smeeth, Mirjam L Adams, Teresa Niccoli, Rosa Rademakers, Marka van Blitterswijk, Anny Devoy, Soyon Hong, Linda Partridge, Alyssa N Coyne, Pietro Fratta, Dario R Alessi, Ben Davies, Marc Aurel Busche, Linda Greensmith, Elizabeth M C Fisher, Adrian M Isaacs
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Alzheimers Res Ther
Published
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Authors
Imogen J Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S Block, Aaron M Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C Jiskoot, Lieke H H Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C Petersen, Dennis W Dickson, Neill R Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L van der Ende, John C van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D Rohrer
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Alzheimers Res Ther
Published
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Authors
Imogen J Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S Block, Aaron M Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C Jiskoot, Lieke H H Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C Petersen, Dennis W Dickson, Neill R Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L van der Ende, John C van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D Rohrer
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Alzheimers Dement
Published
Dementias Platform UK: Bringing genetics into life.
Authors
Ganna Leonenko, Sarah Bauermeister, Dipanwita Ghanti, Joshua Stevenson-Hoare, Emily Simmonds, Keeley Brookes, Kevin Morgan, Nishi Chaturvedi, Paul Elliott, Alan Thomas, Nicholas Wareham, John Gallacher, Valentina Escott-Price
Dementias Platform UK: Bringing genetics into life.
Nature
Published
Crym-positive striatal astrocytes gate perseverative behaviour.
Authors
Matthias Ollivier, Joselyn S Soto, Kay E Linker, Stefanie L Moye, Yasaman Jami-Alahmadi, Anthony E Jones, Ajit S Divakaruni, Riki Kawaguchi, James A Wohlschlegel, Baljit S Khakh
Crym-positive striatal astrocytes gate perseverative behaviour.
Nat Commun
Published
A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer's disease.
Authors
Stergios Tsartsalis, Hannah Sleven, Nurun Fancy, Frank Wessely, Amy M Smith, Nanet Willumsen, To Ka Dorcas Cheung, Michal J Rokicki, Vicky Chau, Eseoghene Ifie, Combiz Khozoie, Olaf Ansorge, Xin Yang, Marion H Jenkyns, Karen Davey, Aisling McGarry, Robert C J Muirhead, Stephanie Debette, Johanna S Jackson, Axel Montagne, David R Owen, J Scott Miners, Seth Love, Caleb Webber, M Zameel Cader, Paul M Matthews
A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer's disease.
Nat Commun
Published
A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer's disease.
Authors
Stergios Tsartsalis, Hannah Sleven, Nurun Fancy, Frank Wessely, Amy M Smith, Nanet Willumsen, To Ka Dorcas Cheung, Michal J Rokicki, Vicky Chau, Eseoghene Ifie, Combiz Khozoie, Olaf Ansorge, Xin Yang, Marion H Jenkyns, Karen Davey, Aisling McGarry, Robert C J Muirhead, Stephanie Debette, Johanna S Jackson, Axel Montagne, David R Owen, J Scott Miners, Seth Love, Caleb Webber, M Zameel Cader, Paul M Matthews
A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer's disease.