检索结果 - Arianna Tucci

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  1. 1
    Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

    Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing 由 David S. Lynch, Georgios Koutsis, Arianna Tucci, Μάριος Πάνας, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden

    出版 2015
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  2. 2
    Genetic variability at the PARK16 locus

    Genetic variability at the PARK16 locus 由 Arianna Tucci, Mike A. Nalls, Henry Houlden, Tamas Revesz, Andrew Singleton, Nicholas Wood, John Hardy, Coro Paisán-Ruiz

    出版 2010
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  3. 3
    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 由 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

    出版 2014
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  4. 4
    Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

    Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy 由 Arianna Tucci, Liu Yt, Elisavet Preza, Robert D. S. Pitceathly, Annapurna Chalasani, Vincent Plagnol, J. M. Land, Daniah Trabzuni, Mina Ryten, Zane Jaunmuktane, Mary M. Reilly, Sebastian Brandner, Iain P. Hargreaves, John Hardy, AB Singleton, Andrey Y. Abramov, Henry Houlden

    出版 2013
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  5. 5
    Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4

    Adaptive Long‐Read Sequencing Reveals <scp>GGC</scp> Repeat Expansion in <scp><i>ZFHX3</i></scp> Associated with Spinocerebellar Ataxia Type 4 由 Zhongbo Chen, Emil K. Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Clarissa Rocca, Eleanor Self, Pilar Álvarez Jerez, Annarita Scardamaglia, David Pellerin, Kylie Montgomery, Jasmaine Lee, Delia Gagliardi, Huihui Luo, John Hardy, James M. Polke, Andrew Singleton, Cornelis Blauwendraat, Katherine D. Mathews, Arianna Tucci, Ying‐Hui Fu, Henry Houlden, Mina Ryten, Louis J. Ptáček

    出版 2024
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  6. 6
    ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

    ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions 由 Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew M. Gross, Giuseppe Narzisi, Brett Bowman, Konrad Scheffler, Joke J.F.A. van Vugt, Courtney E. French, Alba Sanchis‐Juan, Kristina Ibáñez, Arianna Tucci, Bryan R. Lajoie, Jan H. Veldink, F. Lucy Raymond, Ryan J. Taft, David Bentley, Michael A. Eberle

    出版 2019
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  7. 7
    Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    Genetic and phenotypic characterization of complex hereditary spastic paraplegia 由 Eleanna Kara, Arianna Tucci, Claudia Manzoni, David S. Lynch, Marilena Elpidorou, Conceição Bettencourt, Viorica Chelban, Andreea Manole, Sherifa A. Hamed, Nourelhoda A. Haridy, Monica Federoff, Elisavet Preza, Deborah Hughes, Alan Pittman, Zane Jaunmuktane, Sebastian Brandner, Georgia Xiromerisiou, Sarah Wiethoff, Lucía Schottlaender, Christos Proukakis, Huw R. Morris, Thomas T. Warner, Kailash P. Bhatia, L.V. Prasad Korlipara, Andrew Singleton, John Hardy, Nicholas Wood, Patrick A. Lewis, Henry Houlden

    出版 2016
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  8. 8
    Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity

    Kohlschütter-Tönz Syndrome: Mutations in<i>ROGDI</i>and Evidence of Genetic Heterogeneity 由 Arianna Tucci, Eleanna Kara, Anna Schossig, Nicole I. Wolf, Vincent Plagnol, Katherine A. Fawcett, Coro Paisán‐Ruíz, Matthew Moore, Dena Hernández, S Musumeci, Michael B. Tennison, Raoul C. M. Hennekam, Silvia Palmeri, Alessandro Malandrini, Salmo Raskin, Dian Donnai, Corina Hennig, Andreas Tzschach, Roel Hordijk, Thomas Bast, Katharina Wimmer, Chien-Ning Lo, Simon Shorvon, Heather C Mefford, Evan E. Eichler, Roger Hall, Ian Hayes, John Hardy, Andrew Singleton, Johannes Zschocke, Henry Houlden

    出版 2012
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  9. 9
    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study 由 Katherine Schon, Rita Horváth, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibáñez, Thiloka Ratnaike, Robert D. S. Pitceathly, Enrico Bugiardini, Rosaline C. M. Quinlivan, Michael G. Hanna, Emma Clement, Emma Ashton, John A. Sayer, Paul M. Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah Smithson, Richard Festenstein, Natalie Canham, Mark J. Caulfield, Henry Houlden, Shamima Rahman, Patrick F. Chinnery

    出版 2021
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  10. 10
    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

    REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats 由 Egor Dolzhenko, Ben Weisburd, Kristina Ibáñez, Indhu‐Shree Rajan‐Babu, Christine Anyansi, Mark F. Bennett, Kimberley J. Billingsley, Ashley Carroll, Samuel Clamons, Matt C. Danzi, Viraj Deshpande, Jinhui Ding, Sarah Fazal, Andreas Halman, Bharati Jadhav, Yunjiang Qiu, Phillip A. Richmond, Christopher T. Saunders, Konrad Scheffler, Joke J.F.A. van Vugt, Ramona R. A. J. Zwamborn, Samuel S. Chong, Jan M. Friedman, Arianna Tucci, Heidi L. Rehm, Michael A. Eberle

    出版 2022
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  11. 11
    Increased frequency of repeat expansion mutations across different populations

    Increased frequency of repeat expansion mutations across different populations 由 Kristina Ibáñez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J. Hensman Moss, Jana Vandrovcová, Clarissa Rocca, Loukas Moutsianas, Chiara Marini‐Bettolo, Helen Walker, Chris Turner, Maryam Shoai, Jeffrey D. Long, Pietro Fratta, Douglas R. Langbehn, Sarah J. Tabrizi, Mark J. Caulfield, Andrea Cortese, Valentina Escott‐Price, John Hardy, Henry Houlden, Andrew J. Sharp, Arianna Tucci

    出版 2024
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  12. 12
    Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

    Truncating Variants in <i>RFC1</i> in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 由 Riccardo Ronco, Cecilia Perini, Riccardo Currò, Natalia Dominik, Stefano Facchini, Alice Gennari, Roberto Simone, Skye Stuart, Sara Nagy, Elisa Vegezzi, Ilaria Quartesan, Amar El-Saddig, Timothy Lavin, Arianna Tucci, Agnieszka Szymura, Luiz Eduardo Novis De Farias, Alexander Gary, Megan Delfeld, Priscilla Kandikatla, Nifang Niu, Sanjukta Tawde, Joseph Shaw, James M. Polke, Mary M. Reilly, Nicholas Wood, Emmanuele Crespan, Christopher M. Gómez, Jin Yun Helen Chen, Jeremy D. Schmahmann, David Gosal, Henry Houlden, Soma Das, Andrea Cortese

    出版 2022
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  13. 13
    Neuronal intranuclear inclusion disease is genetically heterogeneous

    Neuronal intranuclear inclusion disease is genetically heterogeneous 由 Zhongbo Chen, Wai Yan Yau, Zane Jaunmuktane, Arianna Tucci, Prasanth Sivakumar, Sarah A. Gagliano Taliun, Chris Turner, Stéphanie Efthymiou, Kristina Ibáñez, Roisin Sullivan, Farah Bibi, Alkyoni Athanasiou‐Fragkouli, Thomas Bourinaris, David Zhang, Tamás Révész, Tammaryn Lashley, Michael DeTure, Dennis W. Dickson, Keith A. Josephs, Ellen Gelpí, Gábor G. Kovács, Glenda M. Halliday, Dominic B. Rowe, Ian P. Blair, Pentti J. Tienari, Anu Suomalainen, Nick C. Fox, Nicholas Wood, Andrew J. Lees, Matti Haltia, John Hardy, Mina Ryten, Jana Vandrovcová, Henry Houlden

    出版 2020
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  14. 14
    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

    Loss‐of‐Function Variants in <scp>HOPS</scp> Complex Genes <scp><i>VPS16</i></scp> and <scp><i>VPS41</i></scp> Cause Early Onset Dystonia Associated with Lysosomal Abnormalities... 由 Dora Steel, Michael Zech, Chen Zhao, Katy Barwick, Derek Burke, Diane Demailly, Kishore R. Kumar, Giovanna Zorzi, Nardo Nardocci, Rauan Kaiyrzhanov, Matias Wagner, Arcangela Iuso, Riccardo Berutti, Matěj Škorvánek, Ján Necpál, Ryan L. Davis, Sarah Wiethoff, Kshitij Mankad, Sniya Sudhakar, Arianna Ferrini, Suvasini Sharma, Erik‐Jan Kamsteeg, Marina A.J. Tijssen, Corien Verschuuren, Martje E. van Egmond, Joanna M. Flowers, Meriel McEntagart, Arianna Tucci, Philippe Coubes, Bernabé I. Bustos, Paulina González-Latapí, Stephen Tisch, Paul Darveniza, Kathleen M. Gorman, Kathryn J. Peall, Kai Bötzel, Jan Christoph Koch, Tomasz Kmieć, Barbara Plecko, Sylvia Boesch, Bernhard Haslinger, Robert Jech, Barbara Garavaglia, Nicholas Wood, Henry Houlden, Paul Gissen, Steven Lubbe, Carolyn M. Sue, Laura Cif, Niccolò E. Mencacci, Glenn Anderson, Manju A. Kurian, Juliane Winkelmann

    出版 2020
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  15. 15
    Age and Sex Differences in the Genetics of Cardiomyopathy

    Age and Sex Differences in the Genetics of Cardiomyopathy 由 Oyediran Akinrinade, Robert Lesurf, J. C. Ambrose, Prabhu Arumugam, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, M. J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, A. Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, L. J. Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, S. C. Smith, A. Sosinsky, Alexander Stuckey, M. Tanguy, Elaine Thomas, Simon R. Thompson, Arianna Tucci, Edward E. Walsh, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Jane Lougheed, Tapas Mondal, John Smythe, Luis Altamirano‐Diaz, Erwin Oechslin, Seema Mital

    出版 2023
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  16. 16
    Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

    Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update 由 Anthony McGuigan, James Whitworth, Avgi Andreou, Timothy J. Hearn, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, S. A. Henderson, Tim Hubbard, Rachel Jackson, Lesley Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, M. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Sophie Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, Scott Wood, Marc Tischkowitz, Eamonn R. Maher

    出版 2022
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  17. 17
    Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

    Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease 由 Omid Sadeghi‐Alavijeh, Melanie Chan, Shabbir H. Moochhala, Sarah Howles, Daniel P. Gale, Detlef Böckenhauer, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Bingyang Shi, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Javier F. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood

    出版 2023
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  18. 18
    The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas

    The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas 由 Mary E. Booth, Henry M. Wood, Mark A. Travis, J. C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C. R. Boustred, H. Brittain, Melissa A. Brown, M. J. Caulfield, Gcf Chan, A. Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim Hubbard, Rachel Jackson, Lesley Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, A. Siddiq, A. Sieghart, Sean Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, S. R. Thompson, Arianna Tucci, M. J. Welland, E. Williams, Katarzyna Witkowska, Scott Wood, Magdalena Zarowiecki, Philip Quirke, Heike I. Grabsch

    出版 2025
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  19. 19
    The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer

    The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer 由 Jamie Trotman, Ruth Armstrong, Helen V. Firth, Claire Trayers, James Watkins, Kieren Allinson, Thomas S. Jacques, James C. Nicholson, G.A. Amos Burke, John C. Ambrose, P. Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, D. Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Ashley Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, S. R. Thompson, Arianna Tucci, M. J. Welland, Elena Williams, Katarzyna Witkowska, S. M. Wood, Sam Behjati, Matthew J. Murray, C. Elizabeth Hook, Patrick Tarpey

    出版 2022
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  20. 20
    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis 由 Amelia Shoemark, Helen Griffin, Gabrielle Wheway, Claire Hogg, Jane S. Lucas, Carlos Camps, Jenny C. Taylor, Mary Carroll, Michael R. Loebinger, James D. Chalmers, Deborah Morris‐Rosendahl, Hannah M. Mitchison, Anthony De Soyza, David E. Brown, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, Richard V. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Elyse T. Williams, Katarzyna Witkowska, S. M. Wood

    出版 2022
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