Publications

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Jan 17, 2025 - Research

Brain changes in Huntington’s disease occur decades before diagnosis

Subtle changes in the brain happen approximately twenty years before a clinical motor diagnosis in people with Huntington’s disease, finds a new study led by...

Learn more Brain changes in Huntington’s disease occur decades before diagnosis

Jan 08, 2025 - Research

Genetic changes in brain cells link ageing and Alzheimer’s

Genetic differences that contribute to how long a person will live and their risk of Alzheimer’s disease have been identified in a new study led...

Learn more Genetic changes in brain cells link ageing and Alzheimer’s

Phospho-tau accumulation in MAPT knockout mice

Jan 08, 2025 - Research

Brain damage starts before tau protein clumps in frontotemporal dementia and Alzheimer’s

A new study led by Prof Karen Duff, Dr Naoto Watamura, and Dr Martha Foiani (UK DRI at UCL), with Prof Takaomi Saido (Riken Center...

Learn more Brain damage starts before tau protein clumps in frontotemporal dementia and Alzheimer’s

iScience

Published Jul 21, 2023

Calcium dysregulation combined with mitochondrial failure and electrophysiological maturity converge in Parkinson's iPSC-dopamine neurons.

Authors

Dayne A Beccano-Kelly, Marta Cherubini, Yassine Mousba, Kaitlyn M L Cramb, Stefania Giussani, Maria Claudia Caiazza, Pavandeep Rai, Siv Vingill, Nora Bengoa-Vergniory, Bryan Ng, Gabriele Corda, Abhirup Banerjee, Jane Vowles, Sally Cowley, Richard Wade-Martins

Calcium dysregulation combined with mitochondrial failure and electrophysiological maturity converge in Parkinson's iPSC-dopamine neurons.

EMBO J

Published Jul 17, 2023

HNRNPH1 regulates the neuroprotective cold-shock protein RBM3 expression through poison exon exclusion.

Authors

Julie Qiaojin Lin, Deepak Khuperkar, Sofia Pavlou, Stanislaw Makarchuk, Nikolaos Patikas, Flora Cy Lee, Julia M Zbiegly, Jianning Kang, Sarah F Field, David Md Bailey, Joshua L Freeman, Jernej Ule, Emmanouil Metzakopian, Marc-David Ruepp, Giovanna R Mallucci

HNRNPH1 regulates the neuroprotective cold-shock protein RBM3 expression through poison exon exclusion.

Annu Int Conf IEEE Eng Med Biol Soc

Published Jul 16, 2023

Hearables: Automatic Sleep Scoring from Single-Channel Ear-EEG in Older Adults.

Authors

Ghena Hammour, Giuseppe Atzori, Ciro Della Monica, Kiran K G Ravindran, Victoria Revell, Derk-Jan Dijk, Danilo P Mandic

Hearables: Automatic Sleep Scoring from Single-Channel Ear-EEG in Older Adults.

Nat Rev Immunol

Published Jul 14, 2023

Microglia regulation of central nervous system myelin health and regeneration.

Authors

Sarah A Kent, Veronique E Miron

Microglia regulation of central nervous system myelin health and regeneration.

bioRxiv

Published Jul 11, 2023

Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.

Authors

Taylor Bertucci, Kathryn R Bowles, Steven Lotz, Le Qi, Katherine Stevens, Susan K Goderie, Susan Borden, Laura Maria Oja, Keith Lane, Ryan Lotz, Hailey Lotz, Rebecca Chowdhury, Shona Joy, Brigitte L Arduini, David C Butler, Michael Miller, Heide Baron, Carl Alexander Sandhof, M Catarina Silva, Stephen J Haggarty, Celeste M Karch, Daniel H Geschwind, Alison M Goate, Sally Temple

Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations.

Annu Rev Neurosci

Published Jul 10, 2023

Astrocyte Endfeet in Brain Function and Pathology: Open Questions.

Authors

Blanca Díaz-Castro, Stefanie Robel, Anusha Mishra

Astrocyte Endfeet in Brain Function and Pathology: Open Questions.

Ann Hum Genet

Published Jul 07, 2023

Pitfalls of predicting age-related traits by polygenic risk scores.

Authors

Valentina Escott-Price, Karl Michael Schmidt

Pitfalls of predicting age-related traits by polygenic risk scores.

Neuron

Published Jul 05, 2023

Microglial-to-neuronal CCR5 signaling regulates autophagy in neurodegeneration.

Authors

Beatrice Paola Festa, Farah H Siddiqi, Maria Jimenez-Sanchez, Hyeran Won, Matea Rob, Alvin Djajadikerta, Eleanna Stamatakou, David C Rubinsztein

Microglial-to-neuronal CCR5 signaling regulates autophagy in neurodegeneration.

Wellcome Open Res

Published Jul 04, 2023

nf-core/clipseq - a robust Nextflow pipeline for comprehensive CLIP data analysis.

Authors

Charlotte West, Charlotte Capitanchik, Chris Cheshire, Nicholas M Luscombe, Anob Chakrabarti, Jernej Ule

nf-core/clipseq - a robust Nextflow pipeline for comprehensive CLIP data analysis.

Nat Med

Published Jul 03, 2023

Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis.

Authors

Ann-Kathrin Schalkamp, Kathryn J Peall, Neil A Harrison, Cynthia Sandor

Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis.

Brain

Published Jul 03, 2023

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Authors

Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K Gustavsson, Kristina Ibañez, Regina H Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna García, Siddharth Sethi, Jonathan W Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martinez, , Nick Wood, John A Hardy, Damian Smedley, Henry Houlden, Juan Botía, Mina Ryten

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.

Neuroimage

Published Jul 01, 2023

Higher order diffusion imaging as a putative index of human sleep-related microstructural changes and glymphatic clearance.

Authors

Balázs Örzsik, Marco Palombo, Iris Asllani, Derk-Jan Dijk, Neil A Harrison, Mara Cercignani

Higher order diffusion imaging as a putative index of human sleep-related microstructural changes and glymphatic clearance.

JAMA Neurol

Published Jul 01, 2023

Isosorbide Mononitrate and Cilostazol Treatment in Patients With Symptomatic Cerebral Small Vessel Disease: The Lacunar Intervention Trial-2 (LACI-2) Randomized Clinical Trial.

Authors

Joanna M Wardlaw, Lisa J Woodhouse, Iris I Mhlanga, Katherine Oatey, Anna K Heye, John Bamford, Vera Cvoro, Fergus N Doubal, Timothy England, Ahamad Hassan, Alan Montgomery, John T O'Brien, Christine Roffe, Nikola Sprigg, David J Werring, Philip M Bath,

Isosorbide Mononitrate and Cilostazol Treatment in Patients With Symptomatic Cerebral Small Vessel Disease: The Lacunar Intervention Trial-2 (LACI-2) Randomized Clinical Trial.

Nat Commun

Published Jun 08, 2023

Astrocyte-oligodendrocyte interaction regulates central nervous system regeneration.

Authors

Irene Molina-Gonzalez, Rebecca K Holloway, Zoeb Jiwaji, Owen Dando, Sarah A Kent, Katie Emelianova, Amy F Lloyd, Lindsey H Forbes, Ayisha Mahmood, Thomas Skripuletz, Viktoria Gudi, James A Febery, Jeffrey A Johnson, Jill H Fowler, Tanja Kuhlmann, Anna Williams, Siddharthan Chandran, Martin Stangel, Andrew J M Howden, Giles E Hardingham, Veronique E Miron

Astrocyte-oligodendrocyte interaction regulates central nervous system regeneration.

bioRxiv

Published Jun 05, 2023

Development of MAPT S305 mutation models exhibiting elevated 4R tau expression, resulting in altered neuronal and astrocytic function.

Authors

K R Bowles, D A Pugh, C Pedicone, L Oja, S A Weitzman, Y Liu, J L Chen, M D Disney, A M Goate

Development of MAPT S305 mutation models exhibiting elevated 4R tau expression, resulting in altered neuronal and astrocytic function.

Toxicon

Published Jun 01, 2023

Botulinum neurotoxin A modulates the axonal release of pathological tau in hippocampal neurons.

Authors

Chiara Panzi, Sunaina Surana, Samantha De La-Rocque, Edoardo Moretto, Oscar Marcelo Lazo, Giampietro Schiavo

Botulinum neurotoxin A modulates the axonal release of pathological tau in hippocampal neurons.

Front Hum Neurosci

Published May 24, 2023

Hyper-parameter tuning and feature extraction for asynchronous action detection from sub-thalamic nucleus local field potentials.

Authors

Thomas Martineau, Shenghong He, Ravi Vaidyanathan, Huiling Tan

Hyper-parameter tuning and feature extraction for asynchronous action detection from sub-thalamic nucleus local field potentials.

Int J Mol Sci

Published May 17, 2023

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.

Authors

Yoel Hirsch, Wendy K Chung, Sergey Novoselov, Louis H Weimer, Alexander Rossor, Charles A LeDuc, Amanda J McPartland, Ernesto Cabrera, Josef Ekstein, Sholem Scher, Rick F Nelson, Giampietro Schiavo, Lindsay B Henderson, Kevin T A Booth

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.