Henry Houlden
Active 1991–2026
- 437
- Papers
- 50,188
- Citations
- 115
- h-index
- 392
- i10-index
Citations
Citation sources
Countries
Institutions
Fields
- Medicine52.9%
- Biochemistry, Genetics and Molecular Biology27%
- Neuroscience16.9%
- Nursing0.9%
- Immunology and Microbiology0.5%
- Environmental Science0.4%
- Other1.4%
Topics
- Alzheimer's disease research and treatments8.1%
- Parkinson's Disease Mechanisms and Treatments7.5%
- Genetic Neurodegenerative Diseases3.6%
- Neurological diseases and metabolism3.4%
- Amyotrophic Lateral Sclerosis Research3.3%
- Mitochondrial Function and Pathology2.7%
- Other71.4%
Coauthors
- Reza Maroofian68
- John Hardy63
- Stéphanie Efthymiou60
- Nicholas Wood44
- Mary M. Reilly40
- Viorica Chelban34
- Andrea Cortese30
- Kailash P. Bhatia30
- Rauan Kaiyrzhanov26
- Vincenzo Salpietro26
- Huw R. Morris25
- Stephan Züchner25
- Janice L. Holton24
- David Pellerin23
- Maha S. Zaki23
- James M. Polke22
- Matt C. Danzi22
- Michael G. Hanna22
- Tamás Révész22
- Zane Jaunmuktane22
- Andrew Singleton20
- Jana Vandrovcová20
- Arianna Tucci19
- Ehsan Ghayoor Karimiani19
All papers
- Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
Authors: Mike A. Nalls, 23andMe, GenePD, The Ashkenazi Jewish Dataset Investigator, Alzheimer Genetic Analysis Group, Nathan Pankratz, Christina M. Lill, Chuong B Do, Dena G. Hernandez, Mohamad Saad, Anita L. DeStefano, Eleanna Kara, José Brás, Manu Sharma, Claudia Schulte, Margaux F. Keller, Sampath Arepalli, Christopher T. Letson, Connor Edsall, Hreinn Stefánsson, Xinmin Liu, Hannah A. Pliner, Joseph H. Lee, Rong Cheng, M. Arfan Ikram, John P. A. Ioannidis, Georgios M. Hadjigeorgiou, Joshua C Bis, María Martínez, Joel S. Perlmutter, Alison Goate, Karen Marder, Brian Fiske, Margaret Sutherland, Georgia Xiromerisiou, Richard H. Myers, Lorraine N. Clark, Kāri Stefánsson, John Hardy, Peter Heutink, Honglei Chen, Nicholas Wood, Henry Houlden, Haydeh Payami, Alexis Brice, William K. Scott, Thomas Gasser, Lars Bertram, Nicholas Eriksson, Tatiana Foroud, Andrew Singleton - Nature Genetics 2014 cited by 1,964
- The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
Authors: Nilüfer Rahmioğlu, Sally Mortlock, Marzieh Ghiasi, Peter Möller, Lilja Stefánsdóttir, Geneviève Galarneau, Constance Turman, Rebecca Danning, Matthew H. Law, Yadav Sapkota, Paraskevi Christofidou, Sini Skarp, Ayush Giri, Karina Banasik, Michał Krassowski, Maarja Lepamets, Błażej Marciniak, Margit Nõukas, Danielle Perro, Eeva Sliz, Marta Sobalska‐Kwapis, Guðmar Þorleifsson, Nura F. Topbas-Selcuki, Allison F. Vitonis, David Westergaard, Ragnheidur Arnadottir, Kristoffer Sølvsten Burgdorf, Archie Campbell, Cecilia S. K. Cheuk, Caterina Clementi, James P. Cook, Immaculata De Vivo, Amy D. DiVasta, O Dorien, Jacqueline F. Donoghue, Todd L. Edwards, Pierre Fontanillas, Jenny N. Fung, Reynir Tómas Geirsson, Jane E. Girling, Paivi Harkki, Holly R. Harris, Martin Healey, Oskari Heikinheimo, Sarah J. Holdsworth‐Carson, Isabel C. Hostettler, Henry Houlden, Sahar Houshdaran, Juan C. Irwin, Marjo‐Riitta Järvelin, Yoichiro Kamatani, Stephen Kennedy, Ewa Kępka, Johannes Kettunen, Michiaki Kubo, Bartosz Kulig, Venla Kurra, Hannele Laivuori, Marc R. Laufer, Cecilia M. Lindgren, Stuart MacGregor, Massimo Mangino, Nicholas G. Martin, Charoula Matalliotaki, Michail Matalliotakis, Alison D. Murray, Anne Ndungu, Camran Nezhat, Catherine M. Olsen, Jessica Opoku‐Anane, Sandosh Padmanabhan, Manish Paranjpe, Maire Peters, Grzegorz Polak, David J. Porteous, Joseph T. Rabban, Kathryn M. Rexrode, Hanna Romanowicz, Merli Saare, Liisu Saavalainen, Andrew J. Schork, Sushmita Sen, Amy L. Shafrir, Anna Siewierska-Górska, Marcin Słomka, Blair H. Smith, Beata Smolarz, Tomasz Szaflik, Krzysztof Szyłło, Atsushi Takahashi, Kathryn L. Terry, Carla Tomassetti, Susan A. Treloar, Arne Vanhie, Katy Vincent, Kim Chi Vo, David J. Werring, Eleftheria Zeggini, Maria I. Zervou, Kāri Stefánsson and 48 more - Nature Genetics 2023 cited by 287
- Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Authors: Mike Hutton, Corinne Lendon, Patrizia Rizzu, Matt Baker, Susanne Froelich, Henry Houlden, Stuart Pickering‐Brown, Sumi Chakraverty, Adrian M. Isaacs, Andrew Grover, Jennifer Hackett, Jennifer Adamson, Sarah Lincoln, Dennis W. Dickson, Peter J. Davies, Ronald C. Petersen, Martijn Stevens, Esther de Graaff, Erwin Wauters, Jeltje van Baren, Marcel Hillebrand, Marijke Joosse, Jennifer M. Kwon, Petra Nowotny, Lien Kuei, Joanne Norton, John C. Morris, Lee Reed, John Q. Trojanowski, Hans Basun, Lars Lannfelt, Michael Neystat, Stanley Fahn, Francis Dark, Tony Tannenberg, Peter R. Dodd, Nick Hayward, John B. Kwok, Peter R. Schofield, Athena Andreadis, Julie S. Snowden, David Craufurd, David Neary, F. Owen, Ben A. Oostra, John Hardy, Alison Goate, John C. van Swieten, David Mann, Timothy Lynch, Peter Heutink - Nature 1998 cited by 3,540
- Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Authors: David Pellerin, Matt C. Danzi, Carlo Wilke, M. Renaud, Sarah Fazal, Marie‐Josée Dicaire, Carolin K. Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A. Sonnen, Roxanne Larivière, David Genı́s, Laura Molina‐Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard‐Chamard, Martine Tétreault, Sarah J. Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin Chalk, Anne‐Louise Lafontaine, François Evoy, Marie‐France Rioux, Jiannis Ragoussis, Kym M. Boycott, Marie‐Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G. Laing, Phillipa J. Lamont, Mario Saporta, Rebecca Schüle, Lüdger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Züchner, Bernard Brais - New England Journal of Medicine 2022 cited by 243
- Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Authors: Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nick W. Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden - Nature Genetics 2019 cited by 581
- Genome-wide association study reveals genetic risk underlying Parkinson's disease
Authors: Javier Simón‐Sánchez, Claudia Schulte, José Brás, Manu Sharma, J. Raphael Gibbs, Daniela Berg, Coro Paisán-Ruı́z, Peter Lichtner, Sonja W. Scholz, Dena Hernández, Rejko Krüger, Monica Federoff, Christine Klein, Alison Goate, Joel S. Perlmutter, Michael von Bonin, Michael A. Nalls, Thomas Illig, Christian Gieger, Henry Houlden, Michael Steffens, Michael S. Okun, Brad A. Racette, Mark Cookson, Kelly D. Foote, Hubert H. Fernandez, Bryan J. Traynor, Stefan Schreiber, Sampath Arepalli, Ryan R. Zonozi, Katrina Gwinn, Marcel van der Brug, Grisel Lopez, Stephen J. Chanock, Arthur Schatzkin, Yikyung Park, Albert R. Hollenbeck, Jianjun Gao, Xuemei Huang, Nick W Wood, Delia Lorenz, Günther Deuschl, Honglei Chen, Olaf Rieß, John Hardy, Andrew Singleton, Thomas Gasser - Nature Genetics 2009 cited by 1,954
- Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Authors: Elisa Majounie, Alan E. Renton, Kin Y. Mok, Elise G.P. Dopper, Adrian J. Waite, Sara Rollinson, Adriano Chiò, Gabriella Restagno, Nayia Nicolaou, Javier Simón‐Sánchez, John C. van Swieten, Yevgeniya Abramzon, Janel O. Johnson, Michael Sendtner, Roger Pamphlett, Richard W. Orrell, Simon Mead, Katie Sidle, Henry Houlden, Jonathan D. Rohrer, Karen Morrison, Hardev Pall, Kevin Talbot, Olaf Ansorge, Dena G. Hernandez, Sampath Arepalli, Mario Sabatelli, Gabriele Mora, Massimo Corbo, Fabio Giannini, Andrea Calvo, Elisabet Englund, Giuseppe Borghero, Gianluca Floris, Anne M. Remes, Hannu Laaksovirta, Leo McCluskey, John Q. Trojanowski, Vivianna M. Van Deerlin, Gerard D. Schellenberg, Michael A. Nalls, Vivian E. Drory, Chin‐Song Lu, Tu‐Hsueh Yeh, Hiroyuki Ishiura, Yuji Takahashi, Shoji Tsuji, Isabelle Le Ber, Alexis Brice, Carsten Drepper, Nigel Williams, Janine Kirby, Pamela J. Shaw, John Hardy, Pentti J. Tienari, Peter Heutink, Huw R. Morris, Stuart Pickering‐Brown, Bryan J. Traynor - The Lancet Neurology 2012 cited by 1,226
- Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Authors: Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Ellen M McDonagh, Antonio Rueda, Dimitris Polychronopoulos, Georgia Chan, Heather Angus-Leppan, Kailash P Bhatia, James E Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw Morris, Mary M Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M Schott, Thomas T Warner, Nicholas W Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcova, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna Need, Helen Brittain, Emma Baple, Loukas Moutsianas, Viraj Deshpande, Denise L Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Patrick F Chinnery, Angela Douglas, Gill Wilson, Sian Ellard, I Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri Naresh, Frances A Flinter, Jenny C Taylor, Lynn Greenhalgh, William Newman, Paul Brennan, John A Sayer, F Lucy Raymond, Lyn S Chitty, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, John C. Ambrose, Prabhu Arumugam, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, Clare E.H. Craig, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió-Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman and 40 more - The Lancet Neurology 2022 cited by 183
- Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
Authors: Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, James M. Ferguson, Sandy S. Pineda, Carolin K. Scriba, Michel Tchan, Victor S.C. Fung, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson‐Stone, Lauren Fitzpatrick, Glenda M. Halliday, Gianina Ravenscroft, Mark R. Davis, Nigel G. Laing, Avi Fellner, Marina Kennerson, Kishore R. Kumar, Ira W. Deveson - Science Advances 2022 cited by 183
- Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
Authors: Catherine S. Storm, Demis A. Kia, Mona Mohammad Almramhi, Sara Bandrés‐Ciga, Chris Finan, Alastair J. Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, John P. Quinn, Vivien J. Bubb, Kin Y. Mok, Kerri J. Kinghorn, Patrick A. Lewis, Sebastian R. Schreglmann, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Karen Morrison, Carl E Clarke, Kirsten Harvey, Benjamin M. Jacobs, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Susanne A. Schneider, Mark Cookson, Cornelis Blauwendraat, David W. Craig, Kimberley J. Billingsley, Mary B. Makarious, Derek P. Narendra, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hirotaka Iwaki, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, José Brás, Rita Guerreiro, Steven Lubbe, Timothy Troycoco, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Ryan J. Uitti, Owen A. Ross, Francis P. Grenn, Anni Moore, Roy N. Alcalay, Zbigniew K. Wszołek, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Kheireddin Mufti, Jacobus J. van Hilten, Johan Marinus, Astrid D. Adarmes-Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Ana Cámara, Fátima Carrillo, Mario Carrión‐Claro and 75 more - Nature Communications 2021 cited by 214
- Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
Authors: HUNT All-In Stroke, Mark K. Bakker, China Kadoorie Biobank Collaborative Group, The ICAN Study Group, CADISP Group, Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study investigators, Rick A. A. van der Spek, Wouter van Rheenen, Sandrine Morel, Romain Bourcier, Isabel C. Hostettler, Varinder S. Alg, Kristel R. van Eijk, Masaru Koido, Masato Akiyama, Chikashi Terao, Koichi Matsuda, Robin Walters, Kuang Lin, Liming Li, Iona Y. Millwood, Zhengming Chen, Guy A. Rouleau, Sirui Zhou, Kristiina Rannikmäe, Cathie Sudlow, Henry Houlden, Leonard H. van den Berg, Christian Dina, Olivier Naggara, Jean‐Christophe Gentric, Eimad Shotar, François Eugène, Hubert Desal, Bendik S. Winsvold, Sigrid Børte, Marianne Bakke Johnsen, Ben Brumpton, Marie Søfteland Sandvei, Cristen J. Willer, Kristian Hveem, John‐Anker Zwart, W. M. Monique Verschuren, Christoph M. Friedrich, Sven Hirsch, Sabine Schilling, Jérôme Dauvillier, O. Martin, Gregory T. Jones, Matthew J. Bown, Nerissa Ko, Helen Kim, Jonathan R. I. Coleman, Gerome Breen, Jonathan G. Zaroff, Catharina J.M. Klijn, Rainer Malik, Martin Dichgans, Muralidharan Sargurupremraj, Turgut Tatlisumak, Philippe Amouyel, Stéphanie Debette, Gabriël J.E. Rinkel, Bradford B. Worrall, Joanna Pera, Agnieszka Słowik, Emília Gaál‐Paavola, Mika Niemelä, Juha E. Jääskeläinen, Mikael von und zu Fraunberg, Antti Lindgren, Joseph Broderick, David J. Werring, Daniel Woo, Richard Redon, Philippe Bijlenga, Yoichiro Kamatani, Jan H. Veldink, Ynte M. Ruigrok - Nature Genetics 2020 cited by 346
- Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Authors: Kristina Ibáñez, James M. Polke, R. Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Thomas, Louise C. Daugherty, Dalia Kasperavičiūtė, Katherine R. Smith, WGS for Neurological Diseases Group, ., Zandra C. Deans, Sue Hill, Tom Fowler, Richard H. Scott, John Hardy, Patrick F. Chinnery, Henry Houlden, Augusto Rendon, Mark J. Caulfield, Michael A. Eberle, Ryan J. Taft, Arianna Tucci, Genomics England Research Consortium, . - 2022 cited by 140
- Spinocerebellar ataxia: an update
Authors: Roisin Sullivan, Wai Yan Yau, Emer O’Connor, Henry Houlden - Journal of Neurology 2018 cited by 353
- GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
Authors: Carlo Wilke, David Pellerin, David Mengel, Andreas Traschütz, Matt C. Danzi, Marie‐Josée Dicaire, Manuela Neumann, Holger Lerche, Benjamin Bender, Henry Houlden, RFC1 study group, Jennifer Faber, Richard Roxburgh, José Luiz Pedroso, Paula Camila Alvez, Orlando Graziani Póvoas Barsottini, Chiara Pane, Francesco Saccà, Alessandro Filla, Filippo M. Santorelli, Ivana Ricca, Stephan Züchner, Lüdger Schöls, Bernard Brais, Matthis Synofzik - Brain 2023 cited by 114
- Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
Authors: Demis A. Kia, David Zhang, Sebastian Guelfi, Claudia Manzoni, Leon Hubbard, Regina H. Reynolds, Juan A. Botía, Mina Ryten, Raffaele Ferrari, Patrick A. Lewis, Nigel Williams, Daniah Trabzuni, John Hardy, Nicholas Wood, Alastair J. Noyce, Rauan Kaiyrzhanov, Ben Middlehurst, Demis A. Kia, Manuela Tan, Henry Houlden, Huw R. Morris, Hélène Plun‐Favreau, Peter Holmans, John Hardy, Daniah Trabzuni, José Brás, John P. Quinn, Kin Y. Mok, Kerri J. Kinghorn, Kimberley J. Billingsley, Nicholas Wood, Patrick A. Lewis, Sebastian R. Schreglmann, Rita Guerreiro, Ruth C. Lovering, Lea R’Bibo, Claudia Manzoni, Mie Rizig, Mina Ryten, Sebastian Guelfi, Valentina Escott‐Price, Viorica Chelban, Thomas Foltynie, Nigel Williams, Alexis Brice, Fabrice Danjou, Suzanne Lesage, Jean‐Christophe Corvol, María Martínez, Claudia Schulte, Kathrin Brockmann, Javier Simón‐Sánchez, Peter Heutink, Patrizia Rizzu, Manu Sharma, Thomas Gasser, Aude Nicolas, Mark Cookson, Sara Bandrés‐Ciga, Cornelis Blauwendraat, David W. Craig, Faraz Faghri, J. Raphael Gibbs, Dena Hernández, Kendall Van Keuren‐Jensen, Joshua Shulman, Hampton L. Leonard, Mike A. Nalls, Laurie Robak, Steven Lubbe, Steven Finkbeiner, Niccolò E. Mencacci, Codrin Lungu, Andrew Singleton, Sonja W. Scholz, Xylena Reed, Roy N. Alcalay, Ziv Gan‐Or, Guy A. Rouleau, Lynne Krohn, Jacobus J. van Hilten, Johan Marinus, Astrid Adarmes‐Gómez, Miquel Aguilar, Ignacio Álvarez, Victoria Álvarez, Francisco Javier Barrero, Jesús Alberto Bergareche Yarza, Inmaculada Bernal‐Bernal, Marta Blázquez Estrada, Marta Bonilla‐Toribio, Juan A. Botía, María Teresa Boungiorno, Dolores Buiza‐Rueda, Anna Maria Novella Càmara, Fátima Carrillo, Mario Carrión‐Claro, Debora Cerdan, Jordi Clarimón, Yaroslau Compta and 63 more - JAMA Neurology 2021 cited by 203
- A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid
Authors: Mike Mullan, Fiona Crawford, Karin Axelman, Henry Houlden, Lena Lilius, Bengt Winblad, Lars Lannfelt - Nature Genetics 1992 cited by 1,505
- Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome
Authors: Edwin Jabbari, Negin Holland, Viorica Chelban, P. Simon Jones, Ruth Lamb, Charlotte Rawlinson, Tong Guo, Alyssa Costantini, Manuela Tan, Amanda Heslegrave, Federico Roncaroli, Johannes Klein, Olaf Ansorge, Kieren Allinson, Zane Jaunmuktane, Janice L. Holton, Tamás Révész, Thomas T. Warner, Andrew J. Lees, Henrik Zetterberg, Lucy L. Russell, Martina Bocchetta, Jonathan D. Rohrer, Nigel Williams, Donald G. Grosset, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Michele T. M. Hu, John Woodside, Henry Houlden, James B. Rowe, Huw R. Morris - JAMA Neurology 2019 cited by 178
- Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Authors: Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anaïs Grosset, Inès Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Bossenmeyer‐Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie‐Josée Dicaire, François Evoy, Marie‐France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Züchner, Bernard Brais, M. Renaud - Scientific Reports 2023 cited by 72
- Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
Authors: Juliane Neumann, José Brás, Emma Deas, Sean S. O’Sullivan, Laura Parkkinen, Robin Lachmann, Abi Li, Janice L. Holton, Rita Guerreiro, Reema Paudel, Badmavady Segarane, Andrew Singleton, Andrew J. Lees, John Hardy, Henry Houlden, Tamás Révész, Nicholas Wood - Brain 2009 cited by 707
- α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson’s disease and multiple system atrophy?
Authors: Aoife P. Kiely, Yasmine T. Asi, Eleanna Kara, Patricia Limousin, Helen Ling, Patrick A. Lewis, Christos Proukakis, Niall Quinn, Andrew J. Lees, John Hardy, Tamás Révész, Henry Houlden, Janice L. Holton - Acta Neuropathologica 2013 cited by 447
- Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
Authors: Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul‐Sada, Christina Hung, Michael A. Simpson, W.K. Chong, Thomas S. Jacques, Randy Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn Maher, John Spencer, Ania Straatman‐Iwanowska, Paul Gissen, Laila Selim, Guillem Pintos‐Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson - Nature Communications 2016 cited by 323
- Germline selection shapes human mitochondrial DNA diversity
Authors: Wei Wei, Salih Tuna, Michael J. Keogh, Katherine R. Smith, Katherine R. Smith, Timothy J. Aitman, Phil L. Beales, David Bennett, Daniel P. Gale, Maria A. K. Bitner-Glindzicz, Graeme C. Black, Paul Brennan, Perry Elliott, Frances Flinter, R. Andrés Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R. Maher, Hugh S. Markus, Nicholas W. Morrell, William G. Newman, Irene Roberts, John A. Sayer, Kenneth G. C. Smith, Kenneth G. C. Smith, Jenny C. Taylor, Hugh Watkins, Andrew R. Webster, Andrew O.M. Wilkie, Catherine Williamson, NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Sofie Ashford, Christopher J. Penkett, Kathleen Stirrups, Augusto Rendon, Willem H. Ouwehand, John R. Bradley, F. Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F. Chinnery, Aarnoud Huissoon, Abigail Crisp-Hihn, Adam Shaw, Adam J. Mead, Adam P. Levine, Adrian J. Thrasher, Agnieszka Bierżyńska, Ahamad Hassan, Ajith Kumar, Alba Sanchis‐Juan, Alex Richter, Allan Lawrie, Amy Frary, Andrea H. Németh, Andrea Olschewski, Andreas C. Themistocleous, Andrew C. Browning, Andrew Mumford, Andrew M. Schaefer, Andrew Marshall, Andrew O.M. Wilkie, Andrew Peacock, Andrew R. Harper, Andrew R. Webster, Andrew S.C. Rice, Angela Pyle, Ania Koziell, Anna M. Drazyk, Anne M. Kelly, Annette Wagner, Anthony Attwood, Anthony De Soyza, Anthony M. Vandersteen, Anthony T. Moore, Anton Vonk Noordegraaf, Anupama Rao, Archana Herwadkar, Arjan C. Houweling, Arjune Sen, Augusto Rendon, Austen Worth, Barbara Girerd, Bella Madan, Brian T. Wilson, Carmen Bugarin Diz, Carmen Treacy, Carole Brewer, Carolyn Campbell, Carolyn M. Millar, Catherine Roughley, Catherine Titterton, Catherine Williamson, Cecilia Compton, Cesare Danesino, Chantal Thys, Charaka Hadinnapola, Charu Deshpande and 305 more - Science 2019 cited by 251
- Iatrogenic cerebral amyloid angiopathy: an emerging clinical phenomenon
Authors: Gargi Banerjee, Kiran Samra, Matthew Adams, Zane Jaunmuktane, Adrian Parry‐Jones, Joan Grieve, Ahmed K. Toma, Simon F. Farmer, Richard Sylvester, Henry Houlden, Peter Rudge, Simon Mead, Sebastian Brandner, Jonathan M. Schott, John Collinge, David J. Werring - Journal of Neurology Neurosurgery & Psychiatry 2022 cited by 106
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Authors: Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J. Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Péréon, Cécile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curró, Pedro José Tomaselli, Gilbert Thomas‐Black, Roisin Sullivan, Stéphanie Efthymiou, Alexander M. Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James M. Polke, Diego Kaski, Rita Horváth, Patrick F. Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo M. Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel G. Laing, Richard Roxburgh, Henry Houlden, Mary M. Reilly - Brain 2020 cited by 220
