Search Results - Alan Pittman

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  1. 1
    Untangling the tau gene association with neurodegenerative disorders

    Untangling the tau gene association with neurodegenerative disorders by Alan Pittman, Hon‐Chung Fung, Rohan de Silva

    Published 2006
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  2. 2
    Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome

    Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome by David R. Williams, Janice L. Holton, Catherine Strand, Alan Pittman, Rohan de Silva, Andrew J. Lees, Tamás Révész

    Published 2007
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  3. 3
    Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

    Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism by David R. Williams, Rohan de Silva, Dominic Paviour, Alan Pittman, Hilary Watt, Linda Kilford, Janice L. Holton, Tamás Révész, Andrew J. Lees

    Published 2005
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  4. 4
    The H1c haplotype at the MAPT locus is associated with Alzheimer's disease

    The H1c haplotype at the MAPT locus is associated with Alzheimer's disease by A. J. W. Myers, M. Kaleem, Lauren Marlowe, Alan Pittman, Andrew J. Lees, Hon‐Chung Fung, Jaime Duckworth, Doris G. Leung, Alfreda B. Gibson, Christopher M. Morris, R. de Silva, John Hardy

    Published 2005
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  5. 5
    The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

    The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features by Eleanna Kara, Helen Ling, Alan Pittman, Karen Shaw, Rohan de Silva, Roberto Simone, Janice L. Holton, Jason D. Warren, Jonathan D. Rohrer, Georgia Xiromerisiou, Andrew J. Lees, John Hardy, Henry Houlden, Tamás Révész

    Published 2012
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  6. 6
    Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

    Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias by Puja R. Mehta, Ashley Jones, Sarah Opie-Martin, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Bradley Smith, Simon Topp, Karen Morrison, Pamela J. Shaw, Christopher E. Shaw, Sarah Morgan, Alan Pittman, Ammar Al‐Chalabi

    Published 2018
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  7. 7
    The colorectal cancer risk at 18q21 is caused by a novel variant altering <i>SMAD7</i> expression

    The colorectal cancer risk at 18q21 is caused by a novel variant altering <i>SMAD7</i> expression by Alan Pittman, Silvia Naranjo, Emily L. Webb, Peter Broderick, Esther H. Lips, Tom van Wezel, Hans Morreau, Kathleen E. Sullivan, Sarah Fielding, Philip Twiss, Jayaram Vijayakrishnan, Fernando Casares, Mobshra Qureshi, José Luis Gómez-Skármeta, Richard S. Houlston

    Published 2009
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  8. 8
    The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

    The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism by Lucía Schottlaender, James M. Polke, Helen Ling, Nicola D. MacDoanld, Arianna Tucci, Tina Nanji, Alan Pittman, Rohan de Silva, Janice L. Holton, Tamás Révész, Mary G. Sweeney, Andy Singleton, Andrew J. Lees, Kailash P. Bhatia, Henry Houlden

    Published 2014
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  9. 9
    MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

    MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies by Daniah Trabzuni, Selina Wray, Jana Vandrovcová, Adaikalavan Ramasamy, Robert Walker, Colin Smith, Connie Luk, J. Raphael Gibbs, Allissa Dillman, Dena Hernández, Sampath Arepalli, Andrew Singleton, Mark Cookson, Alan Pittman, Rohan de Silva, Michael E. Weale, John Hardy, Mina Ryten

    Published 2012
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  10. 10
    A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

    A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK by Sarah Morgan, Aleksey Shatunov, William Sproviero, Ashley Jones, Maryam Shoai, Deborah Hughes, Ahmad Al Khleifat, Andrea Malaspina, Karen Morrison, Pamela J. Shaw, Christopher E. Shaw, Katie Sidle, Richard W. Orrell, Pietro Fratta, John Hardy, Alan Pittman, Ammar Al‐Chalabi

    Published 2017
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  11. 11
    Extended phenotypic spectrum of <i>KIF5A</i> mutations

    Extended phenotypic spectrum of <i>KIF5A</i> mutations by Yo-Tsen Liu, Matilde Laurá, Joshua Hersheson, Alejandro Horga, Zane Jaunmuktane, Sebastian Brandner, Alan Pittman, Deborah Hughes, James M. Polke, Mary G. Sweeney, Christos Proukakis, John C. Janssen, Michaela Auer‐Grumbach, Stephan Züchner, Kevin Shields, Mary M. Reilly, Henry Houlden

    Published 2014
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  12. 12
    Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

    Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia by Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis, Nicola MacDonald, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine A. Fawcett, Vincent Plagnol, Kailash P. Bhatia, Alan Medlar, Horia Stanescu, John Hardy, Robert Kleta, Nicholas Wood, Henry Houlden

    Published 2012
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  13. 13
    De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

    De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes by Nirmal Vadgama, Alan Pittman, Michael A. Simpson, Niranjanan Nirmalananthan, Robin Murray, Takeo Yoshikawa, Peter De Rijk, Elliott Rees, George Kirov, Deborah Hughes, Tomas Fitzgerald, Mark Kristiansen, Kerra Pearce, Eliza Cerveira, Qihui Zhu, Chengsheng Zhang, Charles Lee, John Hardy, Jamal Nasir

    Published 2019
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  14. 14
    A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism

    A 6.4 Mb Duplication of the α-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism by Eleanna Kara, Aoife P. Kiely, Christos Proukakis, Nicola Giffin, Seth Love, Jason Hehir, Khadija Rantell, Amelie Pandraud, Dena Hernández, Elizabeth Nacheva, Alan Pittman, Mike A. Nalls, Andrew Singleton, Tamás Révész, Kailash P. Bhatia, Niall Quinn, John Hardy, Janice L. Holton, Henry Houlden

    Published 2014
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  15. 15
    Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

    Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype by Charlotte Hall, Mohammed Akhtar, María Sabater‐Molina, Marta Futema, Angeliki Asimaki, Alexandros Protonotarios, Chrysoula Dalageorgou, Alan Pittman, Mari Paz Suárez, Beatriz Aguilera, Pilar Molina, Esther Zorio, Juan Pedro Rodríguez Hernández, Juan Francisco Pastor, Juan R. Gimeno, Petros Syrris, William J. McKenna

    Published 2019
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  16. 16
    Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

    Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration by Alan Pittman, A. J. W. Myers, Patrick M. Abou‐Sleiman, Hon‐Chung Fung, M. Kaleem, Lauren Marlowe, Jaime Duckworth, Doris G. Leung, David R. Williams, Linda Kilford, Natalie Thomas, Christopher M. Morris, Dennis W. Dickson, Nicholas Wood, John Hardy, Andrew Lees, R. De Silva

    Published 2005
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  17. 17
    Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H

    Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H by Alan Pittman, Silvia Naranjo, Sanni E. Jalava, Philip Twiss, Yussanne Ma, Bianca Olver, Amy Lloyd, Jayaram Vijayakrishnan, Mobshra Qureshi, Peter Broderick, Tom van Wezel, Hans Morreau, Sari Tuupanen, Lauri A. Aaltonen, M. Eva Alonso, Miguel Manzanares, Ángela Gavilán, Tapio Visakorpi, José Luis Gómez-Skármeta, Richard S. Houlston

    Published 2010
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  18. 18
    Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study

    Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study by Manuela Tan, Naveed Malek, Michael Lawton, Leon Hubbard, Alan Pittman, Theresita Joseph, Jason Hehir, Diane M.A. Swallow, Katherine A. Grosset, Sarah Marrinan, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, John Hardy, Nicholas Wood, Yoav Ben‐Shlomo, Donald G. Grosset, Nigel Williams, Huw R. Morris

    Published 2019
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  19. 19
    Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

    Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance by Steven Lubbe, Valentina Escott‐Price, J. Raphael Gibbs, Mike A. Nalls, José Brás, T. Ryan Price, Aude Nicolas, Iris E. Jansen, Kin Y. Mok, Alan Pittman, James E. Tomkins, Patrick A. Lewis, Alastair Noyce, Suzanne Lesage, Manu Sharma, Elena Schiff, Adam P. Levine, Alexis Brice, Thomas Gasser, John Hardy, Peter Heutink, Nicholas Wood, Andrew Singleton, Nigel Williams, Huw R. Morris

    Published 2016
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  20. 20
    Variation at the <i>TRIM11</i> locus modifies progressive supranuclear palsy phenotype

    Variation at the <i>TRIM11</i> locus modifies progressive supranuclear palsy phenotype by Edwin Jabbari, John Woodside, Manuela Tan, Maryam Shoai, Alan Pittman, Raffaele Ferrari, Kin Y. Mok, David Zhang, Regina H. Reynolds, Rohan de Silva, Max‐Joseph Grimm, Gesine Respondek, Ulrich Müller, Safa Al‐Sarraj, Stephen M. Gentleman, Andrew J. Lees, Thomas T. Warner, John Hardy, Tamás Révész, Günter U. Höglinger, Janice L. Holton, Mina Ryten, Huw R. Morris

    Published 2018
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