DNA repair in the trinucleotide repeat disorders
Jones, Lesley, Prof, Houlden, Henry, Prof, Tabrizi, Sarah J, Prof
Published in Lancet neurology (01.01.2017)
Published in Lancet neurology (01.01.2017)
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Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
Shribman, Samuel, Reid, Evan, Crosby, Andrew H, Houlden, Henry, Warner, Thomas T
Published in Lancet neurology (01.12.2019)
Published in Lancet neurology (01.12.2019)
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Journal Article
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J, Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W, Andrade, Nadja S, Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M, Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J, Züchner, Stephan, Reilly, Mary M, Houlden, Henry
Published in Nature genetics (01.04.2019)
Published in Nature genetics (01.04.2019)
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Clinical implications of genetic advances in Charcot-Marie-Tooth disease
Rossor, Alexander M, Polke, James M, Houlden, Henry, Reilly, Mary M
Published in Nature reviews. Neurology (01.10.2013)
Published in Nature reviews. Neurology (01.10.2013)
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Journal Article
Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling
Beaufort, Nathalie, Scharrer, Eva, Kremmer, Elisabeth, Lux, Vanda, Ehrmann, Michael, Huber, Robert, Houlden, Henry, Werring, David, Haffner, Christof, Dichgans, Martin
Published in Proceedings of the National Academy of Sciences - PNAS (18.11.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (18.11.2014)
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Journal Article
Age-related penetrance of the C9orf72 repeat expansion
Murphy, Natalie A, Arthur, Karissa C, Tienari, Pentti J, Houlden, Henry, Chiò, Adriano, Traynor, Bryan J
Published in Scientific reports (18.05.2017)
Published in Scientific reports (18.05.2017)
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Journal Article
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery
Cali, Elisa, Rocca, Clarissa, Salpietro, Vincenzo, Houlden, Henry
Published in Frontiers in neurology (13.01.2022)
Published in Frontiers in neurology (13.01.2022)
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A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS
Cheeran, Binith, Talelli, Penelope, Mori, Francesco, Koch, Giacomo, Suppa, Antonio, Edwards, Mark, Houlden, Henry, Bhatia, Kailash, Greenwood, Richard, Rothwell, John C.
Published in The Journal of physiology (01.12.2008)
Published in The Journal of physiology (01.12.2008)
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Journal Article
Alpha-synuclein mRNA expression in oligodendrocytes in MSA
Asi, Yasmine T., Simpson, Julie E., Heath, Paul R., Wharton, Stephen B., Lees, Andrew J., Revesz, Tamas, Houlden, Henry, Holton, Janice L.
Published in Glia (01.06.2014)
Published in Glia (01.06.2014)
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Journal Article
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Bettencourt, Conceição, Hensman-Moss, Davina, Flower, Michael, Wiethoff, Sarah, Brice, Alexis, Goizet, Cyril, Stevanin, Giovanni, Koutsis, Georgios, Karadima, Georgia, Panas, Marios, Yescas-Gómez, Petra, García-Velázquez, Lizbeth Esmeralda, Alonso-Vilatela, María Elisa, Lima, Manuela, Raposo, Mafalda, Traynor, Bryan, Sweeney, Mary, Wood, Nicholas, Giunti, Paola, Durr, Alexandra, Holmans, Peter, Houlden, Henry, Tabrizi, Sarah J., Jones, Lesley
Published in Annals of neurology (01.06.2016)
Published in Annals of neurology (01.06.2016)
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Journal Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia
Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E, Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y, Simpson, Michael A, Chong, W K, Jacques, Thomas S, Woltjer, Randy L, Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M, Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R, Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A M, Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S, Yoganathan, Sangeetha, Dale, Russell C, Thomas, Maya, Rihel, Jason, Bodamer, Olaf A, Enns, Caroline A, Hayflick, Susan J, Clayton, Peter T, Mills, Philippa B, Kurian, Manju A, Wilson, Stephen W
Published in Nature communications (27.05.2016)
Published in Nature communications (27.05.2016)
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Practical approach to the diagnosis of adult-onset leukodystrophies: an updated guide in the genomic era
Lynch, David S, Wade, Charles, Paiva, Anderson Rodrigues Brandão de, John, Nevin, Kinsella, Justin A, Merwick, Áine, Ahmed, Rebekah M, Warren, Jason D, Mummery, Catherine J, Schott, Jonathan M, Fox, Nick C, Houlden, Henry, Adams, Matthew E, Davagnanam, Indran, Murphy, Elaine, Chataway, Jeremy
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2019)
Published in Journal of neurology, neurosurgery and psychiatry (01.05.2019)
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Journal Article
Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia
Brownjohn, Philip W., Smith, James, Solanki, Ravi, Lohmann, Ebba, Houlden, Henry, Hardy, John, Dietmann, Sabine, Livesey, Frederick J.
Published in Stem cell reports (10.04.2018)
Published in Stem cell reports (10.04.2018)
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Journal Article
Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura
Banerjee, Gargi, Adams, Matthew E., Jaunmuktane, Zane, Alistair Lammie, G., Turner, Ben, Wani, Mushtaq, Sawhney, Inder M. S., Houlden, Henry, Mead, Simon, Brandner, Sebastian, Werring, David J.
Published in Annals of neurology (01.02.2019)
Published in Annals of neurology (01.02.2019)
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