Suchergebnisse - Ricardo Parolin Schnekenberg

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  1. 1
    Next-generation sequencing in childhood disorders

    Next-generation sequencing in childhood disorders von Ricardo Parolin Schnekenberg, Andrea H. Németh

    Veröffentlicht 2013
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  2. 2
    Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

    Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44 von Lauren M. Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, Jonathan P. Williams, Conceição Bettencourt, Jennifer Lickiss, Sandeep Jayawant, Katherine A. Fawcett, Samuel Clokie, Yvonne Wallis, Penny Clouston, David Sims, Henry Houlden, Esther B. E. Becker, Andrea H. Németh

    Veröffentlicht 2017
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  3. 3
    <i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy

    <i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy von Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller, Wayne I. L. Davies, Maria Cristina D’Adamo, Mauro Pessia, Katherine A. Fawcett, David Sims, Elodie Gillard, K Hudspith, Paul Skehel, Jonathan Williams, Mary O’Regan, Sandeep Jayawant, Rosalind J Jefferson, Sarah Hughes, Andrea Lustenberger, Jiannis Ragoussis, M. T. Jackson, Stephen J. Tucker, Andrea H. Németh

    Veröffentlicht 2015
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  4. 4
    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model von Andrea H. Németh, Alexandra Kwasniewska, Stefano Lise, Ricardo Parolin Schnekenberg, Esther B. E. Becker, Katarzyna D. Bera, Morag Shanks, Lorna Gregory, David Buck, M. Zameel Cader, Kevin Talbot, Rajith de Silva, Nicholas Fletcher, Rob Hastings, Sandeep Jayawant, Patrick J. Morrison, Paul Worth, A. Malcolm R. Taylor, John Tolmie, Mary O’Regan, Ruth A. Valentine, Emily Packham, Julie Evans, A Seller, Jiannis Ragoussis

    Veröffentlicht 2013
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  5. 5
    Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

    Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development von Stefano Lise, Yvonne L. Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Šuminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M. Zameel Cader, Sarah Hughes, Richard Armstrong, Alexander Kanapin, Andrew J. Rimmer, Gerton Lunter, Iain Mathieson, Jean‐Baptiste Cazier, David Buck, Jenny C. Taylor, David Bentley, Gil McVean, Peter Donnelly, Samantha J.L. Knight, M. T. Jackson, Jiannis Ragoussis, Andrea H. Németh

    Veröffentlicht 2012
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  6. 6
    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design

    Detailed Analysis of <scp><i>ITPR1</i></scp> Missense Variants Guides Diagnostics and Therapeutic Design von Jussi‐Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon J. McGowan, David Sims, Meriel McEntagart, Frances Elmslie, Debbie Shears, Helen Stewart, George K. Tofaris, Tabib Dabir, Patrick J. Morrison, Diana Johnson, Marios Hadjivassiliou, Sian Ellard, Charles Shaw‐Smith, Anna Znaczko, Abhijit Dixit, Mohnish Suri, Ajoy Sarkar, Rachel Harrison, Gabriela Jones, Henry Houlden, G Ceravolo, Joanna Jarvis, Jonathan Williams, Morag Shanks, Penny Clouston, Julia Rankin, Lubov Blumkin, Tally Lerman‐Sagie, Penina Ponger, Salmo Raskin, Katariina Granath, Johanna Uusimaa, Hector Conti, Emma McCann, Shelagh Joss, Alexander J. M. Blakes, Kay Metcalfe, Helen Kingston, M. Bertoli, Rachel Kneen, Sally Ann Lynch, Inmaculada Martínez Albaladejo, Austen Peter Moore, Wendy D. Jones, Esther B. E. Becker, Andrea H. Németh

    Veröffentlicht 2023
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  7. 7
    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease von Riccardo Currò, Natalia Dominik, Stefano Facchini, Elisa Vegezzi, Roisin Sullivan, Valentina Galassi Deforie, Gorka Fernández‐Eulate, Andreas Traschütz, Salvatore Rossi, Matteo Garibaldi, Mariusz Kwarciany, Franco Taroni, Alfredo Brusco, Jean-Marc Good, Francesca Cavalcanti, Simon Hammans, Gianina Ravenscroft, Richard Roxburgh, Ricardo Parolin Schnekenberg, Bianca Rugginini, Elena Abati, Arianna Manini, Ilaria Quartesan, Arianna Ghia, Adolfo López de Munaín, Fiore Manganelli, Marina Kennerson, Filippo M. Santorelli, Jon Infante, Wilson Marques, Manu Jokela, Sinéad M. Murphy, Paola Mandich, Gian Maria Fabrizi, Chiara Briani, David Gosal, Davide Pareyson, Alberto Ferrari, Ferrán Prados, Tarek Yousry, Vikram Khurana, Sheng‐Han Kuo, James Miller, Claire Troakes, Zane Jaunmuktane, Paola Giunti, Annette M. Hartmann, Nazlı Başak, Matthis Synofzik, Tanya Stojkovic, Marios Hadjivassiliou, Mary M. Reilly, Henry Houlden, Andrea Cortese

    Veröffentlicht 2023
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  8. 8
    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing

    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing von Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Reneé C. Lin, Jevin Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Currò, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelchenska, Yohanns Bellaı̈che, Isabelle Gaugué, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da’as, Valentina Turchetti, Serdal Güngör, Ehsan Ghayoor Karimiani, Camila Armirola-Ricaurte, Haluk Topaloğlu, Albena Jordanova, Mashaya Zaman, Selina Banu, Wilson Marques, Pedro José Tomaselli, Büşra Aynekin, Ali Cansu, Hüseyin Per, Ayten Güleç, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M. Mahdi Motazacker, Esther Brusse, Vincenzo Lupo, Teresa Sevilla, A. Nazlı Başak, Şeyma Tekgül, Robin Palvadeau, Jonathan Baets, Yeşim Parman, Arman Çakar, Rita Horváth, Tobias B. Haack, J. Stahl, Kathrin Grundmann‐Hauser, Joohyun Park, Stephan Züchner, Nigel G. Laing, Lindsay Wilson, Alexander M. Rossor, James M. Polke, Fernanda Barbosa Figueiredo, André Luiz Santos Pessoa, Fernando Kok, Antônio Rodrigues Coimbra Neto, Marcondes C. França, Yalda Jamshidi, Gianina Ravenscroft, Sherifa A. Hamed, Wendy K. Chung, Daniel P. S. Osborn, Michael G. Hanna, Andrea Cortese, Mary M. Reilly, James E.C. Jepson, Nathalie Lamarche‐Vane, Henry Houlden

    Veröffentlicht 2024
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  9. 9
    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

    A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry von Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Currò, Macarena Cabrera‐Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick M. Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo Parolin Schnekenberg, Gorka Fernández‐Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, M.D. Gardner, David J. Amor, Garth A. Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, Piraye Oflazer, Nazlı Başak, Hülya Kayserili, Gözde Yeşil, Edoardo Malfatti, James B Lilleker, Matthew Wicklund, Robert D. S. Pitceathly, Stefen Brady, Bernard Brais, David Pellerin, Stephan Züchner, Matt C. Danzi, Marina Grandis, Giacomo P. Comi, Stefania Corti, Elena Abati, Antonio Toscano, Arianna Manini, Arianna Ghia, Cristina Tassorelli, Ilaria Quartesan, Roberto Simone, Alexander M. Rossor, Mary M. Reilly, Liam Carroll, Volker Straub, Bjarne Udd, Zhiyong Chen, Gisèle Bonne, Rosaline C. M. Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael Fahey, Enrico Bugiardini, Gianina Ravenscroft

    Veröffentlicht 2024
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  10. 10
    Genomics and epidemiology of a novel SARS-CoV-2 lineage in Manaus, Brazil

    Genomics and epidemiology of a novel SARS-CoV-2 lineage in Manaus, Brazil von Nuno R. Faria, Thomas A. Mellan, Charles Whittaker, Ingra Morales Claro, Darlan da Silva Cândido, Swapnil Mishra, Myuki Alfaia Esashika Crispim, Flavia Cristina da Silva Sales, Iwona Hawryluk, John T. McCrone, Ruben J. G. Hulswit, Lucas Augusto Moysés Franco, Mariana Severo Ramundo, Jaqueline Góes de Jesus, Pâmela dos Santos Andrade, Thaís de Moura Coletti, Giulia Magalhães Ferreira, Camila Alves Maia da Silva, Erika R. Manuli, Rafael H. M. Pereira, Pedro S. Peixoto, Moritz U. G. Kraemer, Nelson Gaburo, Cecilia da C. Camilo, Henrique Hoeltgebaum, William Marciel de Souza, E Rocha, L. M. de S. e Souza, Mariana C. Pinho, Leonardo José Tadeu de Araújo, Frederico Scott Varella Malta, Aline Brito de Lima, Joice do Prado Silva, Danielle Alves Gomes Zauli, Alessandro Clayton de Souza Ferreira, Ricardo Parolin Schnekenberg, Daniel J. Laydon, Patrick Walker, Hannah M. Schlüter, Ana L. P. dos Santos, Maria S. Vidal, Valentina S. Del, Rosinaldo M. F. Filho, Helem M. dos Santos, Renato Santana Aguiar, José Luiz Proença‐Módena, Bruce Nelson, James A. Hay, Mélodie Monod, Xenia Miscouridou, Helen Coupland, Raphael Sonabend, Michaela Vollmer, Axel Gandy, Marc A. Suchard, Thomas A. Bowden, Sergei L. Kosakovsky Pond, Chieh‐Hsi Wu, Oliver Ratmann, Neil M. Ferguson, Christopher Dye, Nicholas J. Loman, Philippe Lemey, Andrew Rambaut, Nelson Abrahim Fraiji, Maria do P. S. S. Carvalho, Oliver G. Pybus, Seth Flaxman, Samir Bhatt, Éster Cerdeira Sabino

    Veröffentlicht 2021
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  11. 11
    Genomics and epidemiology of the P.1 SARS-CoV-2 lineage in Manaus, Brazil

    Genomics and epidemiology of the P.1 SARS-CoV-2 lineage in Manaus, Brazil von Nuno R. Faria, Thomas A. Mellan, Charles Whittaker, Ingra Morales Claro, Darlan da Silva Cândido, Swapnil Mishra, Myuki Alfaia Esashika Crispim, Flavia Cristina da Silva Sales, Iwona Hawryluk, John T. McCrone, Ruben J. G. Hulswit, Lucas Augusto Moysés Franco, Mariana Severo Ramundo, Jaqueline Góes de Jesus, Pâmela dos Santos Andrade, Thaís de Moura Coletti, Giulia Magalhães Ferreira, Camila Alves Maia da Silva, Erika R. Manuli, Rafael H. M. Pereira, Pedro S. Peixoto, Moritz U. G. Kraemer, Nelson Gaburo, Cecilia da C. Camilo, Henrique Hoeltgebaum, William Marciel de Souza, E Rocha, L. M. de S. e Souza, Mariana C. Pinho, Leonardo José Tadeu de Araújo, Frederico Scott Varella Malta, Aline Brito de Lima, Joice do Prado Silva, Danielle Alves Gomes Zauli, Alessandro Clayton de Souza Ferreira, Ricardo Parolin Schnekenberg, Daniel J. Laydon, Patrick Walker, Hannah M. Schlüter, Ana L. P. dos Santos, Maria S. Vidal, Valentina S. Del, Rosinaldo M. F. Filho, Helem M. dos Santos, Renato Santana Aguiar, José Luiz Proença‐Módena, Bruce Nelson, James A. Hay, Mélodie Monod, Xenia Miscouridou, Helen Coupland, Raphael Sonabend, Michaela Vollmer, Axel Gandy, Carlos A. Prete, Vítor H. Nascimento, Marc A. Suchard, Thomas A. Bowden, Sergei L. Kosakovsky Pond, Chieh‐Hsi Wu, Oliver Ratmann, Neil M. Ferguson, Christopher Dye, Nicholas J. Loman, Philippe Lemey, Andrew Rambaut, Nelson Abrahim Fraiji, Maria do P. S. S. Carvalho, Oliver G. Pybus, Seth Flaxman, Samir Bhatt, Éster Cerdeira Sabino

    Veröffentlicht 2021
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