檢索結果 - Ana Töpf

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  1. 1
    Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromes

    Intragenic <i>DOK7</i> deletion detected by whole-genome sequencing in congenital myasthenic syndromes 由 Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, Paulo José Lorenzoni, Andreas Roos, Pedro F. Viana, Hidehito Inagaki, Hiroki Kurahashi, Hanns Lochmüller

    出版 2017
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  2. 2
    MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses

    MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses 由 Julien Oury, Yun Liu, Ana Töpf, S. Todorović, Esthelle Hoedt, Veeramani Preethish‐Kumar, Thomas A. Neubert, Weichun Lin, Hanns Lochmüller, Steven J. Burden

    出版 2019
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  3. 3
    Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

    Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder 由 Rachel Thompson, Anastasios Papakonstantinou, Sergi Beltrán, Ana Töpf, Eduardo de Paula Estephan, Kiran Polavarapu, Peter A.C. ‘t Hoen, Paolo Missier, Hanns Lochmüller

    出版 2019
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  4. 4
    Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome

    Identification of mutations in the<i>MYO9A</i>gene in patients with congenital myasthenic syndrome 由 Emily O’Connor, Ana Töpf, Juliane S. Müller, Dan Cox, Teresinha Evangelista, J. Colomer, Angela Abicht, Jan Senderek, Oswald Hasselmann, Ahmet Yaramış, Steven H. Laval, Hanns Lochmüller

    出版 2016
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  5. 5
    Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

    Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot 由 Ana Töpf, Helen Griffin, Elise Glen, Rachel Soemedi, Danielle L. Brown, Darroch Hall, Thahira Rahman, Jyrki J. Eloranta, Christoph Jüngst, Graham Stuart, John O’Sullivan, Bernard Keavney, Judith A. Goodship

    出版 2014
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  6. 6
    22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia

    22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia 由 Klaartje van Engelen, Ana Töpf, Bernard Keavney, JA Goodship, Enno T. van der Velde, Marieke J.H. Baars, Simone Snijder, Antoon F.M. Moorman, Alex V. Postma, B. J. M. Mulder

    出版 2010
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  7. 7
    Nonsynonymous variants in the<i>SMAD6</i>gene predispose to congenital cardiovascular malformation

    Nonsynonymous variants in the<i>SMAD6</i>gene predispose to congenital cardiovascular malformation 由 Huay Lin Tan, Elise Glen, Ana Töpf, Darroch Hall, John O’Sullivan, Linda Sneddon, Christopher Wren, Peter Avery, Richard J. Lewis, Peter ten Dijke, Helen M. Arthur, Judith A. Goodship, Bernard Keavney

    出版 2012
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  8. 8
    Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis

    Congenital myasthenic syndrome in a cohort of patients with ‘double’ seronegative myasthenia gravis 由 Paulo José Lorenzoni, Renata Dal‐Prá Ducci, Raquel Cristina Arndt, Nyvia Milicio Coblinski Hrysay, Otto Jesús Hernández Fustes, Ana Töpf, Hanns Lochmüller, Lineu César Werneck, Cláudia Suemi Kamoi Kay, Rosana Hermínia Scola

    出版 2021
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  9. 9
    Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants

    Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for... 由 Helen Griffin, Ana Töpf, Elise Glen, Christiane Zweier, Graham Stuart, J M Parsons, Ian Peart, John Deanfield, John O’Sullivan, Anita Rauch, Peter Scambler, John Burn, Heather J. Cordell, Bernard Keavney, JA Goodship

    出版 2010
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  10. 10
    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy 由 Elizabeth Harris, Ana Töpf, Rita Barresi, Judith A. Hudson, Helen Powell, James O. Tellez, Debbie Hicks, Anna Porter, Marta Bértoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Þ. Magnússon, Monkol Lek, Daniel G. MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

    出版 2017
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  11. 11
    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes 由 Iker Núñez‐Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Töpf, Rachel Thompson, Peter A.C. ‘t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltrán, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia

    出版 2024
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  12. 12
    Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort

    Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort 由 Maryke Schoonen, Mahmoud R. Fassad, Krutik Patel, Michelle Bisschoff, Armand Vorster, Tendai Makwikwi, Ronel Human, Elsa Lubbe, Malebo Nonyane, Barend Christiaan Vorster, Ana Töpf, Michael G. Hanna, Robert W. Taylor, Robert McFarland, Lindsay A. Wilson, Francois H. van der Westhuizen, Izelle Smuts

    出版 2025
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  13. 13
    Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

    Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission 由 Amina Chaouch, Vito Porcelli, Dan Cox, Simon Edvardson, Pasquale Scarcia, Anna Grassi, Ciro Leonardo Pierri, Judith Cossins, Steven H. Laval, Helen Griffin, Juliane Müller, Teresinha Evangelista, Ana Töpf, Angela Abicht, Angela Huebner, Maja von der Hagen, Kate Bushby, Volker Straub, Rita Horváth, Orly Elpeleg, Jacqueline Palace, Jan Senderek, David Beeson, Luigi Palmieri, Hanns Lochmüller

    出版 2014
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  14. 14
    Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort

    Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort 由 Kiran Polavarapu, B. Sunitha, Ana Töpf, Veeramani Preethish‐Kumar, Rachel Thompson, Seena Vengalil, Saraswati Nashi, Mainak Bardhan, Sai Bhargava Sanka, Akshata Huddar, Gopikrishnan Unnikrishnan, Gautham Arunachal, Manu Santhappan Girija, Anna Porter, Yoshiteru Azuma, Paulo José Lorenzoni, Dipti Baskar, Ram Murthy Anjanappa, Madassu Keertipriya, Hansashree Padmanabh, Ganaraja Valakunja Harikrishna, Steven Laurie, Leslie Matalonga, Rita Horváth, Atchayaram Nalini, Hanns Lochmüller

    出版 2023
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  15. 15
    A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

    A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome 由 Eduardo de Paula Estephan, Cláudia Ferreira da Rosa Sobreira, André Cleriston José dos Santos, Pedro José Tomaselli, Wilson Marques, Roberta Paiva Magalhães Ortega, Marcela Câmara Machado Costa, André Macedo Serafim Silva, Rodrigo Holanda Mendonça, Vitor Marques Caldas, Antônio A. Zambon, Osório Lopes Abath Neto, Paulo Eurípedes Marchiori, Carlos Otto Heise, Umbertina Conti Reed, Yoshiteru Azuma, Ana Töpf, Hanns Lochmüller, Edmar Zanoteli

    出版 2018
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  16. 16
    Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

    Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls 由 Rachel Soemedi, Ana Töpf, Ian Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya, Catherine Cosgrove, J. David Brook, Javier T Granados-Riveron, Kerry Setchfield, Frances Bu’Lock, Chris Thornborough, Koenraad Devriendt, Jeroen Breckpot, Michael Hofbeck, Mark Lathrop, Anita Rauch, Gillian M. Blue, David S. Winlaw, Matthew E. Hurles, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney

    出版 2011
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  17. 17
    Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

    Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease 由 Rachel Soemedi, Ian Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zélénika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier T Granados-Riveron, Gillian M. Blue, Jeroen Breckpot, Stephen Hellens, Simon Zwolinkski, Elise Glen, Chrysovalanto Mamasoula, Thahira Rahman, Darroch Hall, Anita Rauch, Koenraad Devriendt, Marc Gewillig, John O’ Sullivan, David S. Winlaw, Frances Bu’Lock, J. David Brook, Shoumo Bhattacharya, Mark Lathrop, Mauro Santibanez‐Koref, Heather J. Cordell, Judith A. Goodship, Bernard Keavney

    出版 2012
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  18. 18
    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations 由 Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabriel Chow, Aisling Carr, Adnan Manzur, S. Robb, Pinki Munot, Weiwei Liu, Siddharth Banka, Harry Fraser, Christian de Goede, Edmar Zanoteli, Umbertina Conti Reed, Abigail Sage, M. Gratacós, Alfons Macaya, Marina Dusl, Jan Senderek, Ana Töpf, Monika Hofer, Ravi Knight, Sithara Ramdas, Sandeep Jayawant, Hanns Lochmüller, Jacqueline Palace, David Beeson

    出版 2019
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  19. 19
    Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

    Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy 由 Jorge Alonso‐Pérez, Lidia González‐Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J. Vílchez, Mário Emílio Teixeira Dourado Júnior, Naz Kadem, Gültekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O. Crawford, Xavier Suárez‐Calvet, Ana Töpf, Michela Guglieri, Chiara Marini‐Bettolo, P. Gallano, Volker Straub, Jordi Díaz‐Manera

    出版 2021
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  20. 20
    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb... 由 Katherine Johnson, Marta Bértoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera‐Pruszczyk, Anna Potulska‐Chromik, Nicolas Deconinck, Carina Wallgren‐Pettersson, Sonja Strang‐Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández‐Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmuş, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub

    出版 2018
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