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Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Published in:
2022
By:
- Soutar, Marc P M;
- Melandri, Daniela;
- O'Callaghan, Benjamin;
- Annuario, Emily;
- Monaghan, Amy E;
- Welsh, Natalie J;
- D'Sa, Karishma;
- Guelfi, Sebastian;
- Zhang, David;
- Pittman, Alan;
- Trabzuni, Daniah;
- Verboven, Anouk H A;
- Pan, Kylie S;
- Kia, Demis A;
- Bictash, Magda;
- Gandhi, Sonia;
- Houlden, Henry;
- Cookson, Mark R;
- Kasri, Nael Nadif;
- Wood, Nicholas W
Publication type:
journal article
Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy.
Published in:
2019
By:
- Guelfi, Sebastian;
- Botia, Juan A.;
- Thom, Maria;
- Ramasamy, Adaikalavan;
- Perona, Marina;
- Stanyer, Lee;
- Martinian, Lillian;
- Trabzuni, Daniah;
- Smith, Colin;
- Walker, Robert;
- Ryten, Mina;
- Reimers, Mark;
- Weale, Michael E.;
- Hardy, John;
- Matarin, Mar
Publication type:
journal article
Insights into the Influence of Specific Splicing Events on the Structural Organization of LRRK2.
Published in:
International Journal of Molecular Sciences, 2018, v. 19, n. 9, p. 2784, doi. 10.3390/ijms19092784
By:
- Vlachakis, Dimitrios;
- Labrou, Nikolaos E.;
- Iliopoulos, Costas;
- Hardy, John;
- Lewis, Patrick A.;
- Rideout, Hardy;
- Trabzuni, Daniah
Publication type:
Article
Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.
Published in:
Nucleic Acids Research, 2013, v. 41, n. 7, p. e88, doi. 10.1093/nar/gkt069
By:
- Ramasamy, Adaikalavan;
- Trabzuni, Daniah;
- Gibbs, J. Raphael;
- Dillman, Allissa;
- Hernandez, Dena G.;
- Arepalli, Sampath;
- Walker, Robert;
- Smith, Colin;
- Ilori, Gigaloluwa Peter;
- Shabalin, Andrey A.;
- Li, Yun;
- Singleton, Andrew B.;
- Cookson, Mark R.;
- Hardy, John;
- Ryten, Mina;
- Weale, Michael E.
Publication type:
Article
Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26280-1
By:
- Storm, Catherine S.;
- Kia, Demis A.;
- Almramhi, Mona M.;
- Bandres-Ciga, Sara;
- Finan, Chris;
- International Parkinson's Disease Genomics Consortium (IPDGC);
- Noyce, Alastair J.;
- Kaiyrzhanov, Rauan;
- Middlehurst, Ben;
- Tan, Manuela;
- Houlden, Henry;
- Morris, Huw R.;
- Plun-Favreau, Helene;
- Holmans, Peter;
- Hardy, John;
- Trabzuni, Daniah;
- Quinn, John;
- Bubb, Vivien;
- Mok, Kin Y.;
- Kinghorn, Kerri J.
Publication type:
Article
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22262-5
By:
- Chen, Zhongbo;
- Zhang, David;
- Reynolds, Regina H.;
- Gustavsson, Emil K.;
- García-Ruiz, Sonia;
- D'Sa, Karishma;
- Fairbrother-Browne, Aine;
- Vandrovcova, Jana;
- International Parkinson's Disease Genomics Consortium (IPDGC);
- Noyce, Alastair J.;
- Kaiyrzhanov, Rauan;
- Middlehurst, Ben;
- Kia, Demis A.;
- Tan, Manuela;
- Morris, Huw R.;
- Plun-Favreau, Helene;
- Holmans, Peter;
- Trabzuni, Daniah;
- Bras, Jose;
- Quinn, John
Publication type:
Article
Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated <i>LRRK2</i> Locus.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070724
By:
- Trabzuni, Daniah;
- Ryten, Mina;
- Emmett, Warren;
- Ramasamy, Adaikalavan;
- Lackner, Karl J.;
- Zeller, Tanja;
- Walker, Robert;
- Smith, Colin;
- Lewis, Patrick A.;
- Mamais, Adamantios;
- de Silva, Rohan;
- Vandrovcova, Jana;
- Hernandez, Dena;
- Nalls, Michael A.;
- Sharma, Manu;
- Garnier, Sophie;
- Lesage, Suzanne;
- Simon-Sanchez, Javier;
- Gasser, Thomas;
- Heutink, Peter
Publication type:
Article
Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue.
Published in:
PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022489
By:
- Devine, Michael J.;
- Kaganovich, Alice;
- Ryten, Mina;
- Mamais, Adamantios;
- Trabzuni, Daniah;
- Manzoni, Claudia;
- McGoldrick, Philip;
- Diane Chan;
- Dillman, Allissa;
- Zerle, Julia;
- Horan, Susannah;
- Taanman, Jan-Willem;
- Hardy, John;
- Marti-Masso, Jose-Felix;
- Healey, Daniel;
- Schapira, Anthony H.;
- Wolozin, Benjamin;
- Bandopadhyay, Rina;
- Cookson, Mark R.;
- van der Brug, Marcel P.
Publication type:
Article
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
Published in:
JAMA Neurology, 2021, v. 78, n. 4, p. 464, doi. 10.1001/jamaneurol.2020.5257
By:
- Kia, Demis A.;
- Zhang, David;
- Guelfi, Sebastian;
- Manzoni, Claudia;
- Hubbard, Leon;
- Reynolds, Regina H.;
- Botía, Juan;
- Ryten, Mina;
- Ferrari, Raffaele;
- Lewis, Patrick A.;
- Williams, Nigel;
- Trabzuni, Daniah;
- Hardy, John;
- Wood, Nicholas W.
Publication type:
Article
Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55590-0
By:
- Sng, Letitia M. F.;
- Thomson, Peter C.;
- Trabzuni, Daniah
Publication type:
Article
Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci.
Published in:
Annals of Human Genetics, 2013, v. 77, n. 2, p. 85, doi. 10.1111/ahg.12000
By:
- Holton, Patrick;
- Ryten, Mina;
- Nalls, Michael;
- Trabzuni, Daniah;
- Weale, Michael E.;
- Hernandez, Dena;
- Crehan, Helen;
- Gibbs, J. Raphael;
- Mayeux, Richard;
- Haines, Jonathan L.;
- Farrer, Lindsay A.;
- Pericak‐Vance, Margaret A.;
- Schellenberg, Gerard D.;
- Ramirez‐Restrepo, Manuel;
- Engel, Anzhelika;
- Myers, Amanda J.;
- Corneveaux, Jason J.;
- Huentelman, Matthew J.;
- Dillman, Allissa;
- Cookson, Mark R.
Publication type:
Article
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3140, doi. 10.1093/brain/awt233
By:
- Kasperavičiūtė, Dalia;
- Catarino, Claudia B.;
- Matarin, Mar;
- Leu, Costin;
- Novy, Jan;
- Tostevin, Anna;
- Leal, Bárbara;
- Hessel, Ellen V. S.;
- Hallmann, Kerstin;
- Hildebrand, Michael S.;
- Dahl, Hans-Henrik M.;
- Ryten, Mina;
- Trabzuni, Daniah;
- Ramasamy, Adaikalavan;
- Alhusaini, Saud;
- Doherty, Colin P.;
- Dorn, Thomas;
- Hansen, Jörg;
- Krämer, Günter;
- Steinhoff, Bernhard J.
Publication type:
Article
eQTL Catalogue 2023: New datasets, X chromosome QTLs, and improved detection and visualisation of transcript-level QTLs.
Published in:
PLoS Genetics, 2023, v. 19, n. 9, p. 1, doi. 10.1371/journal.pgen.1010932
By:
- Kerimov, Nurlan;
- Tambets, Ralf;
- Hayhurst, James D.;
- Rahu, Ida;
- Kolberg, Peep;
- Raudvere, Uku;
- Kuzmin, Ivan;
- Chowdhary, Anshika;
- Vija, Andreas;
- Teras, Hans J.;
- Kanai, Masahiro;
- Ulirsch, Jacob;
- Ryten, Mina;
- Hardy, John;
- Guelfi, Sebastian;
- Trabzuni, Daniah;
- Kim-Hellmuth, Sarah;
- Rayner, William;
- Finucane, Hilary;
- Peterson, Hedi
Publication type:
Article
Widespread sex differences in gene expression and splicing in the adult human brain.
Published in:
Nature Communications, 2013, v. 4, n. 11, p. 2771, doi. 10.1038/ncomms3771
By:
- Trabzuni, Daniah;
- Ramasamy, Adaikalavan;
- Imran, Sabaena;
- Walker, Robert;
- Smith, Colin;
- Weale, Michael E.;
- Hardy, John;
- Ryten, Mina
Publication type:
Article
Loss of GPR3 reduces the amyloid plaque burden and improves memory in Alzheimer’s disease mouse models.
Published in:
Science Translational Medicine, 2015, v. 7, n. 309, p. 1, doi. 10.1126/scitranslmed.aab3492
By:
- Yunhong Huang;
- Skwarek-Maruszewska, Aneta;
- Horré, Katrien;
- Vandewyer, Elke;
- Wolfs, Leen;
- Snellinx, An;
- Takashi Saito;
- Radaelli, Enrico;
- Corthout, Nikky;
- Colombelli, Julien;
- Lo, Adrian C.;
- Van Aerschot, Leen;
- Callaerts-Vegh, Zsuzsanna;
- Trabzuni, Daniah;
- Bossers, Koen;
- Verhaagen, Joost;
- Ryten, Mina;
- Munck, Sebastian;
- D’Hooge, Rudi;
- Swaab, Dick F.
Publication type:
Article
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Published in:
2013
By:
- Hersheson, Joshua;
- Mencacci, Niccolo E;
- Davis, Mary;
- Macdonald, Nicola;
- Trabzuni, Daniah;
- Ryten, Mina;
- Pittman, Alan;
- Paudel, Reema;
- Kara, Eleanna;
- Fawcett, Katherine;
- Plagnol, Vincent;
- Bhatia, Kailash P;
- Medlar, Alan J;
- Stanescu, Horia C;
- Hardy, John;
- Kleta, Robert;
- Wood, Nicholas W;
- Houlden, Henry
Publication type:
journal article
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Published in:
Annals of Neurology, 2013, v. 73, n. 4, p. 546, doi. 10.1002/ana.23832
By:
- Hersheson, Joshua;
- Mencacci, Niccolo E.;
- Davis, Mary;
- MacDonald, Nicola;
- Trabzuni, Daniah;
- Ryten, Mina;
- Pittman, Alan;
- Paudel, Reema;
- Kara, Eleanna;
- Fawcett, Katherine;
- Plagnol, Vincent;
- Bhatia, Kailash P.;
- Medlar, Alan J.;
- Stanescu, Horia C.;
- Hardy, John;
- Kleta, Robert;
- Wood, Nicholas W.;
- Houlden, Henry
Publication type:
Article
Investigating the utility of human embryonic stem cell-derived neurons to model ageing and neurodegenerative disease using whole-genome gene expression and splicing analysis.
Published in:
Journal of Neurochemistry, 2012, v. 122, n. 4, p. 738, doi. 10.1111/j.1471-4159.2012.07825.x
By:
- Patani, Rickie;
- Lewis, Patrick A.;
- Trabzuni, Daniah;
- Puddifoot, Clare A.;
- Wyllie, David J. A.;
- Walker, Robert;
- Smith, Colin;
- Hardingham, Giles E.;
- Weale, Michael;
- Hardy, John;
- Chandran, Siddharthan;
- Ryten, Mina
Publication type:
Article
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies.
Published in:
Journal of Neurochemistry, 2012, v. 120, n. 3, p. 473, doi. 10.1111/j.1471-4159.2011.07602.x
By:
- Trabzuni, Daniah;
- Ryten, Mina;
- Walker, Robert;
- Smith, Colin;
- Imran, Sabaena;
- Ramasamy, Adaikalavan;
- Weale, Michael;
- Hardy, John
Publication type:
Article
Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies.
Published in:
Journal of Neurochemistry, 2011, v. 119, n. 2, p. 275, doi. 10.1111/j.1471-4159.2011.07432.x
By:
- Trabzuni, Daniah;
- Ryten, Mina;
- Walker, Robert;
- Smith, Colin;
- Imran, Sabaena;
- Ramasamy, Adaikalavan;
- Weale, Michael E.;
- Hardy, John
Publication type:
Article
Author Correction: Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset.
Published in:
2020
By:
- Sng, Letitia M. F.;
- Thomson, Peter C.;
- Trabzuni, Daniah
Publication type:
Correction Notice
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 18, p. 4094, doi. 10.1093/hmg/dds238
By:
- Trabzuni, Daniah;
- Wray, Selina;
- Vandrovcova, Jana;
- Ramasamy, Adaikalavan;
- Walker, Robert;
- Smith, Colin;
- Luk, Connie;
- Gibbs, J. Raphael;
- Dillman, Allissa;
- Hernandez, Dena G.;
- Arepalli, Sampath;
- Singleton, Andrew B.;
- Cookson, Mark R.;
- Pittman, Alan M.;
- de Silva, Rohan;
- Weale, Michael E.;
- Hardy, John;
- Ryten, Mina
Publication type:
Article
Recursive splicing in long vertebrate genes.
Published in:
Nature, 2015, v. 521, n. 7552, p. 371, doi. 10.1038/nature14466
By:
- Sibley, Christopher R.;
- Emmett, Warren;
- Blazquez, Lorea;
- Faro, Ana;
- Haberman, Nejc;
- Briese, Michael;
- Trabzuni, Daniah;
- Ryten, Mina;
- Weale, Michael E.;
- Hardy, John;
- Modic, Miha;
- Curk, Tomaž;
- Wilson, Stephen W.;
- Plagnol, Vincent;
- Ule, Jernej
Publication type:
Article
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Published in:
Nature, 2014, v. 505, n. 7484, p. 550, doi. 10.1038/nature12825
By:
- Cruchaga, Carlos;
- Karch, Celeste M.;
- Jin, Sheng Chih;
- Benitez, Bruno A.;
- Cai, Yefei;
- Guerreiro, Rita;
- Harari, Oscar;
- Norton, Joanne;
- Budde, John;
- Bertelsen, Sarah;
- Jeng, Amanda T.;
- Cooper, Breanna;
- Skorupa, Tara;
- Carrell, David;
- Levitch, Denise;
- Hsu, Simon;
- Choi, Jiyoon;
- Ryten, Mina;
- Hardy, John;
- Trabzuni, Daniah
Publication type:
Article
Genetic variability in the regulation of gene expression in ten regions of the human brain.
Published in:
Nature Neuroscience, 2014, v. 17, n. 10, p. 1418, doi. 10.1038/nn.3801
By:
- Ramasamy, Adaikalavan;
- Trabzuni, Daniah;
- Guelfi, Sebastian;
- Varghese, Vibin;
- Smith, Colin;
- Walker, Robert;
- De, Tisham;
- Coin, Lachlan;
- de Silva, Rohan;
- Cookson, Mark R;
- Singleton, Andrew B;
- Hardy, John;
- Ryten, Mina;
- Weale, Michael E
Publication type:
Article
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 5, p. 735
By:
- Al-Mahdawi, Sahar;
- Pinto, Ricardo Mouro;
- Ismail, Ozama;
- Varshney, Dhaval;
- Lymperi, Stefania;
- Sandi, Chiranjeevi;
- Trabzuni, Daniah;
- Pook, Mark
Publication type:
Article
Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3.
Published in:
Neurogenetics, 2017, v. 18, n. 3, p. 121, doi. 10.1007/s10048-017-0514-8
By:
- Murthy, Megha;
- Blauwendraat, Cornelis;
- Guelfi, Sebastian;
- Hardy, John;
- Lewis, Patrick;
- Trabzuni, Daniah
Publication type:
Article
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.
Published in:
2019
By:
- Bandres‐Ciga, Sara;
- Saez‐Atienzar, Sara;
- Bonet‐Ponce, Luis;
- Billingsley, Kimberley;
- Vitale, Dan;
- Blauwendraat, Cornelis;
- Gibbs, Jesse Raphael;
- Pihlstrøm, Lasse;
- Gan‐Or, Ziv;
- Noyce, Alastair J;
- Kaiyrzhanov, Rauan;
- Middlehurst, Ben;
- Kia, Demis A;
- Tan, Manuela;
- Houlden, Henry;
- Morris, Huw R;
- Plun‐Favreau, Helene;
- Holmans, Peter;
- Hardy, John;
- Trabzuni, Daniah
Publication type:
journal article
Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.
Published in:
Movement Disorders, 2014, v. 29, n. 2, p. 245, doi. 10.1002/mds.25732
By:
- Mok, Kin Y.;
- Schneider, Susanne A.;
- Trabzuni, Daniah;
- Stamelou, Maria;
- Edwards, Mark;
- Kasperaviciute, Dalia;
- Pickering‐Brown, Stuart;
- Silverdale, Monty;
- Hardy, John;
- Bhatia, Kailash P.
Publication type:
Article
Analysis of gene expression data using a linear mixed model/finite mixture model approach: application to regional differences in the human brain.
Published in:
Bioinformatics, 2014, v. 30, n. 11, p. 1555, doi. 10.1093/bioinformatics/btu088
By:
- Trabzuni, Daniah;
- Thomson, Peter C.
Publication type:
Article
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14483-x
By:
- Guelfi, Sebastian;
- D'Sa, Karishma;
- Botía, Juan A.;
- Vandrovcova, Jana;
- Reynolds, Regina H.;
- Zhang, David;
- Trabzuni, Daniah;
- Collado-Torres, Leonardo;
- Thomason, Andrew;
- Quijada Leyton, Pedro;
- Gagliano Taliun, Sarah A.;
- Nalls, Mike A.;
- International Parkinson's Disease Genomics Consortium (IPDGC);
- Noyce, Alastair J.;
- Nicolas, Aude;
- Cookson, Mark R.;
- Bandres-Ciga, Sara;
- Gibbs, J. Raphael;
- Hernandez, Dena G.;
- Singleton, Andrew B.
Publication type:
Article
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.
Published in:
BMC Medical Genetics, 2011, v. 12, n. 1, p. 91, doi. 10.1186/1471-2350-12-91
By:
- Imtiaz, Faiqa;
- Taibah, Khalid;
- Ramzan, Khushnooda;
- Bin-Khamis, Ghada;
- Kennedy, Shelley;
- Al-Mubarak, Bashayer;
- Trabzuni, Daniah;
- Allam, Rabab;
- Al-Mostafa, Abeer;
- Sogaty, Sameera;
- Al-Shaikh, Abdulmoneem H.;
- Bamukhayyar, Saeed S.;
- Meyer, Brian F.;
- Al-Owain, Mohammed
Publication type:
Article

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