A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
Mencacci, Niccolo E., Rubio-Agusti, Ignacio, Zdebik, Anselm, Asmus, Friedrich, Ludtmann, Marthe H.R., Ryten, Mina, Plagnol, Vincent, Hauser, Ann-Kathrin, Bandres-Ciga, Sara, Bettencourt, Conceição, Forabosco, Paola, Hughes, Deborah, Soutar, Marc M.P., Peall, Kathryn, Morris, Huw R., Trabzuni, Daniah, Tekman, Mehmet, Stanescu, Horia C., Kleta, Robert, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Garavaglia, Barbara, Lohmann, Ebba, Weissbach, Anne, Klein, Christine, Hardy, John, Pittman, Alan M., Foltynie, Thomas, Abramov, Andrey Y., Gasser, Thomas, Bhatia, Kailash P., Wood, Nicholas W.
Published in American journal of human genetics (04.06.2015)
Published in American journal of human genetics (04.06.2015)
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
TRABZUNI, Daniah, WRAY, Selina, AREPALLI, Sampath, SINGLETON, Andrew B, COOKSON, Mark R, PITTMAN, Alan M, DE SILVA, Rohan, WEALE, Michael E, HARDY, John, RYTEN, Mina, VANDROVCOVA, Jana, RAMASAMY, Adaikalavan, WALKER, Robert, SMITH, Colin, LUK, Connie, RAPHAEL GIBBS, J, DILLMAN, Allissa, HERNANDEZ, Dena G
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation
Nacheva, Elizabeth, Mokretar, Katya, Soenmez, Aynur, Pittman, Alan M, Grace, Colin, Valli, Roberto, Ejaz, Ayesha, Vattathil, Selina, Maserati, Emanuela, Houlden, Henry, Taanman, Jan-Willem, Schapira, Anthony H, Proukakis, Christos
Published in PloS one (06.07.2017)
Published in PloS one (06.07.2017)
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Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H
Pittman, Alan M, Naranjo, Silvia, Jalava, Sanni E, Twiss, Philip, Ma, Yussanne, Olver, Bianca, Lloyd, Amy, Vijayakrishnan, Jayaram, Qureshi, Mobshra, Broderick, Peter, van Wezel, Tom, Morreau, Hans, Tuupanen, Sari, Aaltonen, Lauri A, Alonso, M Eva, Manzanares, Miguel, Gavilán, Angela, Visakorpi, Tapio, Gómez-Skarmeta, José Luis, Houlston, Richard S
Published in PLoS genetics (01.09.2010)
Published in PLoS genetics (01.09.2010)
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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts
Myers, Amanda J, Pittman, Alan M, Zhao, Alice S, Rohrer, Kristen, Kaleem, Mona, Marlowe, Lauren, Lees, Andrew, Leung, Doris, McKeith, Ian G, Perry, Robert H, Morris, Chris M, Trojanowski, John Q, Clark, Christopher, Karlawish, Jason, Arnold, Steve, Forman, Mark S, Van Deerlin, Vivianna, de Silva, Rohan, Hardy, John
Published in Neurobiology of disease (01.03.2007)
Published in Neurobiology of disease (01.03.2007)
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Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice
Bugiardini, Enrico, Nunes, Andreia M, Oliveira-Santos, Ariany, Dagda, Marisela, Fontelonga, Tatiana M, Barraza-Flores, Pamela, Pittman, Alan M, Morrow, Jasper M, Parton, Matthew, Houlden, Henry, Elliott, Perry M, Syrris, Petros, Maas, Roderick P, Akhtar, Mohammed M, Küsters, Benno, Raaphorst, Joost, Schouten, Meyke, Kamsteeg, Erik-Jan, van Engelen, Baziel, Hanna, Michael G, Phadke, Rahul, Lopes, Luis R, Matthews, Emma, Burkin, Dean J
Published in Journal of the American Heart Association (06.12.2022)
Published in Journal of the American Heart Association (06.12.2022)
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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
Bettencourt, Conceição, Salpietro, Vincenzo, Efthymiou, Stephanie, Chelban, Viorica, Hughes, Deborah, Pittman, Alan M, Federoff, Monica, Bourinaris, Thomas, Spilioti, Martha, Deretzi, Georgia, Kalantzakou, Triantafyllia, Houlden, Henry, Singleton, Andrew B, Xiromerisiou, Georgia
Published in Orphanet journal of rare diseases (02.11.2017)
Published in Orphanet journal of rare diseases (02.11.2017)
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The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression
Pittman, Alan M, Naranjo, Silvia, Webb, Emily, Broderick, Peter, Lips, Esther H, van Wezel, Tom, Morreau, Hans, Sullivan, Kate, Fielding, Sarah, Twiss, Philip, Vijayakrishnan, Jayaram, Casares, Fernando, Qureshi, Mobshra, Gómez-Skarmeta, José Luis, Houlston, Richard S
Published in Genome Research (01.06.2009)
Published in Genome Research (01.06.2009)
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Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1 -Related Diseases
Bugiardini, Enrico, Pope, Simon, Feichtinger, René G, Poole, Olivia V, Pittman, Alan M, Woodward, Cathy E, Heales, Simon, Quinlivan, Rosaline, Houlden, Henry, Mayr, Johannes A, Hanna, Michael G, Pitceathly, Robert D S
Published in Journal of clinical medicine (08.07.2019)
Published in Journal of clinical medicine (08.07.2019)
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Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype
Hall, Charlotte L., Akhtar, Mohammed M., Sabater-Molina, Maria, Futema, Marta, Asimaki, Angeliki, Protonotarios, Alexandros, Dalageorgou, Chrysoula, Pittman, Alan M., Suarez, Mari Paz, Aguilera, Beatriz, Molina, Pilar, Zorio, Esther, Hernández, Juan Pedro, Pastor, Francisco, Gimeno, Juan R., Syrris, Petros, McKenna, William J.
Published in International journal of cardiology (15.05.2020)
Published in International journal of cardiology (15.05.2020)
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Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study
Tan, Manuela M X, Malek, Naveed, Lawton, Michael A, Hubbard, Leon, Pittman, Alan M, Joseph, Theresita, Hehir, Jason, Swallow, Diane M A, Grosset, Katherine A, Marrinan, Sarah L, Bajaj, Nin, Barker, Roger A, Burn, David J, Bresner, Catherine, Foltynie, Thomas, Hardy, John, Wood, Nicholas, Ben-Shlomo, Yoav, Grosset, Donald G, Williams, Nigel M, Morris, Huw R
Published in Brain (London, England : 1878) (01.09.2019)
Published in Brain (London, England : 1878) (01.09.2019)
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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
MENCACCI, Niccolò E, ISAIAS, Ioannis U, NOYCE, Alastair J, MOK, Kin Y, OPLADEN, Thomas, KUNSTMANN, Erdmute, HODECKER, Sybille, MÜNCHAU, Alexander, VOLKMANN, Jens, SAMNICK, Samuel, SIDLE, Katie, NANJI, Tina, REICH, Martin M, SWEENEY, Mary G, HOULDEN, Henry, BATLA, Amit, ZECCHINELLI, Anna L, PEZZOLI, Gianni, MAROTTA, Giorgio, LEES, Andrew, ALEGRIA, Paulo, KRACK, Paul, CORMIER-DEQUAIRE, Florence, GANOS, Christos, LESAGE, Suzanne, BRICE, Alexis, HEUTINK, Peter, GASSER, Thomas, LUBBE, Steven J, MORRIS, Huw R, TABA, Pille, KOKS, Sulev, MAJOUNIE, Elisa, GIBBS, J. Raphael, PLAGNOL, Vincent, SINGLETON, Andrew, HARDY, John, KLEBE, Stephan, BHATIA, Kailash P, WOOD, Nicholas W, POLKE, James M, BRAS, Jose, HERSHESON, Joshua, STAMELOU, Maria, PITTMAN, Alan M
Published in Brain (London, England : 1878) (01.09.2014)
Published in Brain (London, England : 1878) (01.09.2014)
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Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease
Blauwendraat, Cornelis, Reed, Xylena, Kia, Demis A, Gan-Or, Ziv, Lesage, Suzanne, Pihlstrøm, Lasse, Guerreiro, Rita, Gibbs, J Raphael, Sabir, Marya, Ahmed, Sarah, Ding, Jinhui, Alcalay, Roy N, Hassin-Baer, Sharon, Pittman, Alan M, Brooks, Janet, Edsall, Connor, Hernandez, Dena G, Chung, Sun Ju, Goldwurm, Stefano, Toft, Mathias, Schulte, Claudia, Bras, Jose, Wood, Nicholas W, Brice, Alexis, Morris, Huw R, Scholz, Sonja W, Nalls, Mike A, Singleton, Andrew B, Cookson, Mark R
Published in JAMA neurology (01.11.2018)
Published in JAMA neurology (01.11.2018)
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A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
Chandler, Ian, Teixeira, Ana, Howarth, Kimberley, Martin, Lynn, Cazier, Jean-Baptiste, Vijayakrishnan, Jayaram, Houlston, Richard S, Sieber, Oliver, Rowan, Andrew, Wood, Wendy, Tomlinson, Ian, Broderick, Peter, Carvajal-Carmona, Luis, Kemp, Zoe, Sellick, Gabrielle, Peto, Julian, Webb, Emily, Sullivan, Kate, Penegar, Steven, Papaemmanuil, Elli, Fielding, Sarah, Kerr, David, Pittman, Alan M, Barclay, Ella, Gray, Richard, Spain, Sarah, Domingo, Enric, Lubbe, Steven, Gorman, Maggie, Jaeger, Emma, Qureshi, Mobshra
Published in Nature genetics (01.11.2007)
Published in Nature genetics (01.11.2007)
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The intellectual disability risk gene Kdm5b regulates long term memory consolidation in the hippocampus
Perez-Sisques, Leticia, Bhatt, Shail, Matuleviciute, Rugile, Gileadi, Talia, Kramar, Eniko, Graham, Andrew, Garcia, Franklin G, Keiser, Ashley, Matheos, Dina P, Cain, James A, Pittman, Alan M, Andreae, Laura C, Fernandes, Cathy, Wood, Marcelo A, Giese, K Peter, Basson, M Albert
Published in The Journal of neuroscience (08.05.2024)
Published in The Journal of neuroscience (08.05.2024)
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Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
Houlston, Richard S, Webb, Emily, Broderick, Peter, Pittman, Alan M, Di Bernardo, Maria Chiara, Lubbe, Steven, Chandler, Ian, Vijayakrishnan, Jayaram, Sullivan, Kate, Penegar, Steven, Carvajal-Carmona, Luis, Howarth, Kimberley, Jaeger, Emma, Spain, Sarah L, Walther, Axel, Barclay, Ella, Martin, Lynn, Gorman, Maggie, Domingo, Enric, Teixeira, Ana S, Kerr, David, Cazier, Jean-Baptiste, Niittymäki, Iina, Tuupanen, Sari, Karhu, Auli, Aaltonen, Lauri A, Tomlinson, Ian P M, Farrington, Susan M, Tenesa, Albert, Prendergast, James G D, Barnetson, Rebecca A, Cetnarskyj, Roseanne, Porteous, Mary E, Pharoah, Paul D P, Koessler, Thibaud, Hampe, Jochen, Buch, Stephan, Schafmayer, Clemens, Tepel, Jurgen, Schreiber, Stefan, Völzke, Henry, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Zanke, Brent W, Montpetit, Alexandre, Hudson, Thomas J, Gallinger, Steven, Campbell, Harry, Dunlop, Malcolm G
Published in Nature genetics (01.12.2008)
Published in Nature genetics (01.12.2008)
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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities
Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.
Published in Genetics in medicine (01.02.2023)
Published in Genetics in medicine (01.02.2023)
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Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance
Lubbe, Steven J, Escott-Price, Valentina, Gibbs, J Raphael, Nalls, Mike A, Bras, Jose, Price, T Ryan, Nicolas, Aude, Jansen, Iris E, Mok, Kin Y, Pittman, Alan M, Tomkins, James E, Lewis, Patrick A, Noyce, Alastair J, Lesage, Suzanne, Sharma, Manu, Schiff, Elena R, Levine, Adam P, Brice, Alexis, Gasser, Thomas, Hardy, John, Heutink, Peter, Wood, Nicholas W, Singleton, Andrew B, Williams, Nigel M, Morris, Huw R
Published in Human molecular genetics (15.12.2016)
Published in Human molecular genetics (15.12.2016)
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A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations
Kara, Eleanna, Kiely, Aoife P, Proukakis, Christos, Giffin, Nicola, Love, Seth, Hehir, Jason, Rantell, Khadija, Pandraud, Amelie, Hernandez, Dena G, Nacheva, Elizabeth, Pittman, Alan M, Nalls, Mike A, Singleton, Andrew B, Revesz, Tamas, Bhatia, Kailash P, Quinn, Niall, Hardy, John, Holton, Janice L, Houlden, Henry
Published in JAMA neurology (01.09.2014)
Published in JAMA neurology (01.09.2014)
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