Výsledky vyhledávání - Amy Pizzino

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  1. 1
    <i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

    <i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder Autor Nicole I. Wolf, Camilo Toro, Ilya Kister, Kartikasalwah Abd Latif, Richard J. Leventer, Amy Pizzino, Cas Simons, Truus E. M. Abbink, Ryan J. Taft, Marjo S. van der Knaap, Adeline Vanderver

    Vydáno 2014
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    Artigo
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  2. 2
    ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

    ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism Autor Sacha Ferdinandusse, Kim D. Falkenberg, Janet Koster, P. A. W. Mooyer, Richard O. Jones, Carlo W.T. van Roermund, Amy Pizzino, Michael Schrader, Ronald J. A. Wanders, Adeline Vanderver, Hans R. Waterham

    Vydáno 2016
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    Artigo
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  3. 3
    A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

    A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies Autor Sumit Parikh, Geneviève Bernard, Richard J. Leventer, Marjo S. van der Knaap, Johan Van Hove, Amy Pizzino, Nathan H. McNeill, Guy Helman, Cas Simons, Johanna Schmidt, William B. Rizzo, Marc C. Patterson, Ryan J. Taft, Adeline Vanderver

    Vydáno 2014
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    Revisão
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  4. 4
    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination

    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination Autor Amy Pizzino, Tyler Mark Pierson, Yiran Guo, Guy Helman, Sebastian Fortini, Kether Guerrero, Sulagna C. Saitta, Jennifer L. Murphy, Quasar Saleem Padiath, Yi Xie, Hákon Hákonarson, Xun Xu, Tara Funari, Michelle Fox, Ryan J. Taft, Marjo S. van der Knaap, Geneviève Bernard, Raphael Schiffmann, Cas Simons, Adeline Vanderver

    Vydáno 2014
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    Artigo
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  5. 5
    Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

    Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect Autor Cas Simons, Laurie B. Griffin, Guy Helman, Gretchen Golas, Amy Pizzino, Miriam Bloom, Jennifer L. Murphy, Joanna Crawford, Sarah Helen Evans, Scott Topper, Matthew T. Whitehead, John M. Schreiber, Kimberly A. Chapman, Cyndi Tifft, Katrina B. Lu, Howard Gamper, Megumi Shigematsu, Ryan J. Taft, Anthony Antonellis, Ya‐Ming Hou, Adeline Vanderver

    Vydáno 2015
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    Artigo
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  6. 6
    Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations

    Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations Autor Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik A. Sistermans, Coriene E. Catsman‐Berrevoets, Johan M. Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S. van der Knaap, Geneviève Bernard

    Vydáno 2014
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    Artigo
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  7. 7
    Disease specific therapies in leukodystrophies and leukoencephalopathies

    Disease specific therapies in leukodystrophies and leukoencephalopathies Autor Guy Helman, Keith Van Haren, Joshua L. Bonkowsky, Geneviève Bernard, Amy Pizzino, Nancy Braverman, Dean Suhr, Marc C. Patterson, S. Ali Fatemi, Jeff Leonard, Marjo S. van der Knaap, Stephen A. Back, Stephen A. Damiani, Steven A. Goldman, Asako Takanohashi, Magdalena A. Petryniak, David H. Rowitch, Albee Messing, Lawrence Wrabetz, Raphael Schiffmann, Florian Eichler, Maria L. Escolar, Adeline Vanderver

    Vydáno 2015
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    Artigo
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  8. 8
    Janus Kinase Inhibition in the Aicardi–Goutières Syndrome

    Janus Kinase Inhibition in the Aicardi–Goutières Syndrome Autor Adeline Vanderver, Laura Adang, Francesco Gavazzi, Katherine McDonald, Guy Helman, David B. Frank, Nicole Jaffe, Sabrina W. Yum, Abigail Collins, Stephanie Keller, Pierre Lebon, Jean–François Méritet, Jullie Rhee, Asako Takanohashi, Thaís Armangué, Nicole Ulrick, Omar Sherbini, Jamie Koh, Kyle Peer, Constance Besnier, Carly Scher, Katherine Boyle, Holly Dubbs, Julia Kramer-Golinkoff, Amy Pizzino, Sarah Woidill, Justine Shults

    Vydáno 2020
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    Carta
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  9. 9
    Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

    Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing Autor Johanna Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora Jh Bean, Cristina da Silva, Megan T. Cho, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zöe Powis, Grace M. Hobson, Susan M. Kirwin, Bryan L. Krock, Hane Lee, Joshua L. Deignan, Maggie Westemeyer, Ryan Subaran, Isabelle Thiffault, Ellen Tsai, Terry Fang, Guy Helman, Adeline Vanderver

    Vydáno 2020
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    Artigo
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  10. 10
    Whole exome sequencing in patients with white matter abnormalities

    Whole exome sequencing in patients with white matter abnormalities Autor Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I. Wolf, Geneviève Bernard, Amy Pizzino, Johanna Schmidt, Asako Takanohashi, David S. Miller, Amirah Khouzam, Vani Rajan, Erica Ramos, Shimul Chowdhury, Tina Hambuch, Kelin Ru, Gregory J. Baillie, Sean M. Grimmond, Ljubica Caldovic, Joseph M. Devaney, Miriam Bloom, Sarah Helen Evans, Jennifer L. Murphy, Nathan McNeill, Brent L. Fogel, Raphael Schiffmann, Marjo S. van der Knaap, Ryan J. Taft

    Vydáno 2016
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  11. 11
    X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

    X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 Autor Noriko Miyake, Nicole I. Wolf, Ferdy Kurniawan Cayami, Joanna Crawford, Annette Bley, Dorothy Bulas, Alex Conant, Stephen J. Bent, Karen W. Gripp, Andreas Hahn, Sean Humphray, Shihoko Kimura‐Ohba, Zoya Kingsbury, Bryan R. Lajoie, Dennis Lal, Dimitra Micha, Amy Pizzino, Richard J. Sinke, Deborah A. Sival, Irene Stolte‐Dijkstra, Andrea Superti‐Furga, Nicole Ulrick, Ryan J. Taft, Tsutomu Ogata, Keiichi Ozono, Naomichi Matsumoto, Bernd A. Neubauer, Cas Simons, Adeline Vanderver

    Vydáno 2017
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    Artigo
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  12. 12
    Genome sequencing in persistently unsolved white matter disorders

    Genome sequencing in persistently unsolved white matter disorders Autor Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna Schmidt, Geneviève Bernard, Raphael Schiffmann, Marjo S. van der Knaap, Cas Simons, Ryan J. Taft, Adeline Vanderver

    Vydáno 2020
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  13. 13
    Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

    Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation Autor Long Guo, Débora Romeo Bertola, Asako Takanohashi, Asuka Saito, Yuko Segawa, Takanori Yokota, Satoru Ishibashi, Yoichiro Nishida, Guilherme Lopes Yamamoto, José Francisco da Silva Franco, Rachel Sayuri Honjo, Chong Ae Kim, Camila Manso Musso, Margaret Timmons, Amy Pizzino, Ryan J. Taft, Bryan R. Lajoie, Melanie A. Knight, Kenneth H. Fischbeck, Andrew Singleton, Carlos R. Ferreira, Zheng Wang, Yan Li, James Garbern, Pelin Özlem Şimşek‐Kiper, Hirofumi Ohashi, Pamela Gehron Robey, A. Boyde, Naomichi Matsumoto, Noriko Miyake, Jürgen W. Spranger, Raphael Schiffmann, Adeline Vanderver, Gen Nishimura, Maria Rita Passos‐Bueno, Cas Simons, Kinya Ishikawa, Shiro Ikegawa

    Vydáno 2019
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    Artigo
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  14. 14
    Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

    Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies Autor Laura Adang, Omar Sherbini, Laura J. Ball, Miriam Bloom, Anil Darbari, Hernán Amartino, Donna DiVito, Florian Eichler, Maria L. Escolar, Sarah Helen Evans, Ali Fatemi, Jamie L. Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan M. Maddock, Edna E. Mancilla, Bruce McClary, Jana Mertz, Kiley Morgart, Thomas J. Langan, Richard J. Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L. Renaud, William B. Rizzo, Jay R. Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I. Wolf, Ayelet Zerem, Joshua L. Bonkowsky, Geneviève Bernard, Keith Van Haren, Adeline Vanderver

    Vydáno 2017
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    Artigo
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  15. 15
    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1<... Autor Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez

    Vydáno 2015
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  16. 16
    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i>

    Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in <i>POLR3A</i>, <i>POLR3B</i>, and <i>POLR1C</i> Autor Félixe Pelletier, Stefanie Perrier, Ferdy Kurniawan Cayami, Amytice Mirchi, Stéphan Saïkali, Luan T. Tran, Nicole Ulrick, Kether Guerrero, Emmanouil Rampakakis, Rosalina M.L. van Spaendonk, Sakkubai Naidu, Daniela Pohl, William T. Gibson, Michelle Demos, Cyril Goizet, Ingrid Tejera-Martin, Ana Potic, Brent L. Fogel, Bernard Brais, Michel Sylvain, Guillaume Sébire, Charles Marques Lourenço, Joshua L. Bonkowsky, Coriene E. Catsman‐Berrevoets, Pedro Soares Pinto, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Dorota Gieruszczak‐Białek, Ingeborg Krägeloh‐Mann, Hanna Mierzewska, Heike Philippi, Julia Rankin, Tahir Atık, Brenda Banwell, William Benko, Astrid Blaschek, Annette Bley, Eugen Boltshauser, Drago Bratkovic, Klára Brožová, Icíar Cimas, Christopher Clough, Bernard Corenblum, Argirios Dinopoulos, Gail Dolan, Flavio Faletra, Raymond Fernandez, Janice M. Fletcher, María Eugenia García, Paolo Gasparini, Janina Gburek‐Augustat, Dolores González Morón, Aline I. Hamati, Inga Harting, Christoph Hertzberg, Alan Hill, Grace M. Hobson, A. Micheil Innes, Marcelo Kauffman, Susan M. Kirwin, Gerhard Kluger, Petra Kolditz, Urania Kotzaeridou, Roberta La Piana, Eriskay Liston, W. McClintock, Meriel McEntagart, Fiona McKenzie, Serge B. Melançon, Anjum Misbahuddin, Mohnish Suri, Fernando Montón, Sébastien Moutton, Raymond P. Murphy, Miriam Nickel, Hüseyin Önay, Simona Orcesi, Ferda Özkınay, Steffi Patzer, Hélio Pedro, Sandra Pekić, M. Pineda, Amy Pizzino, Barbara Plecko, Bwee Tien Poll‐The, Vera Popović, D. Rating, Marie‐France Rioux, N. Rodríguez-Espinosa, Anne Ronan, John R. Østergaard, Elsa Rossignol, Rocío Sánchez‐Carpintero, Anna Schossig, Nesrin Şenbil, Laura Roos, Cathy A. Stevens, Matthis Synofzik, László Sztriha

    Vydáno 2020
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  17. 17
    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients Autor Laura Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael March, Divya Nair, Elliott H. Sherr, Brieana Fregeau, Klaas J. Wierenga, Alexandrea Wadley, Grazia M.S. Mancini, Nina Powell‐Hamilton, Jiddeke van de Kamp, Theresa A. Grebe, John Dean, Alison Ross, Heather P. Crawford, Zöe Powis, Megan T. Cho, Marcia Willing, Linda Manwaring, Rachel Schot, Caroline Nava, Alexandra Afenjar, Davor Lessel, Matias Wagner, Thomas Klopstock, Juliane Winkelmann, Claudia B. Catarino, Kyle Retterer, Jane L. Schuette, Jeffrey W. Innis, Amy Pizzino, Sabine Lüttgen, Jonas Denecke, Tim M. Strom, Kristin G. Monaghan, Zuo‐Fei Yuan, Holly Dubbs, Renee Bend, Jennifer A. Lee, Michael J. Lyons, Julia Hoefele, Roman Günthner, Heiko Reutter, Boris Keren, Kelly Radtke, Omar Sherbini, Cameron Mrokse, Katherine L. Helbig, Sylvie Odent, Benjamin Cogné, Sandra Mercier, Stéphane Bézieau, Thomas Besnard, Sébastien Küry, Richard Redon, Karit Reinson, Monica H. Wojcik, Katrin Õunap, Pilvi Ilves, A. Micheil Innes, Kristin D. Kernohan, Gregory Costain, M. Stephen Meyn, David Chitayat, Elaine H. Zackai, Anna Lehman, Hilary Kitson, Martin G. Martin, Julián A. Martínez-Agosto, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Janet S. Sinsheimer, Éric Vilain, Jijun Wan, Amanda J. Yoon, Allison Zheng, Elise Brimble, Giovanni Battista Ferrero, Francesca Clementina Radio, Diana Carli, Sabina Barresi, Alfredo Brusco, Marco Tartaglia, Jennifer Muncy Thomas, Luis A. Umaña, Marjan M. Weiss, Garrett Gotway, Kyra E. Stuurman, Michelle L. Thompson, Kirsty McWalter, Constance T. R. M. Stumpel, Servi J.C. Stevens

    Vydáno 2020
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