Search Results - Guy Helman

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  1. 1
    Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

    Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome by Roberta La Piana, C. Uggetti, Federico Roncarolo, Adeline Vanderver, Ivana Olivieri, Davide Tonduti, Guy Helman, Umberto Balottin, Elisa Fazzi, Yanick J. Crow, John Livingston, Simona Orcesi

    Published 2015
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  2. 2
    Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy

    Magnetic resonance imaging spectrum of succinate dehydrogenase–related infantile leukoencephalopathy by Guy Helman, Ljubica Caldovic, Matthew T. Whitehead, Cas Simons, Knut Brockmann, Simon Edvardson, Renkui Bai, Isabella Moroni, J. Michael Taylor, Keith Van Haren, Ryan J. Taft, Adeline Vanderver, Marjo S. van der Knaap

    Published 2015
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  3. 3
    Aicardi goutières syndrome is associated with pulmonary hypertension

    Aicardi goutières syndrome is associated with pulmonary hypertension by Laura Adang, David B. Frank, Ahmed Gilani, Asako Takanohashi, Nicole Ulrick, Abigail Collins, Zachary Cross, Csaba Galambos, Guy Helman, Usama Kanaan, Stephanie Keller, Dawn M. Simon, Omar Sherbini, Brian D. Hanna, Adeline Vanderver

    Published 2018
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  4. 4
    Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

    Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature by Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M.L. van Spaendonk, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Rogier Min

    Published 2024
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  5. 5
    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 by 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

    Published 2014
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  6. 6
    TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

    TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes by Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, Marianna Bugiani, Xiaoqin Fu, Nicole I. Wolf, Bruce Nmezi, Raphael Schiffmann, Mona Bugaighis, Tyler Mark Pierson, Guy Helman, Cas Simons, Marjo S. van der Knaap, Judy Liu, Quasar Saleem Padiath, Adeline Vanderver

    Published 2017
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  7. 7
    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy by Cas Simons, David A. Dyment, Stephen J. Bent, Joanna Crawford, Marc D’Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee Tien Poll‐The, Christine Makowski, Yoko Ito, Kristin D. Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J. Taft, Marjo S. van der Knaap, Nicole I. Wolf

    Published 2017
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  8. 8
    Case definition and classification of leukodystrophies and leukoencephalopathies

    Case definition and classification of leukodystrophies and leukoencephalopathies by Adeline Vanderver, Morgan Prust, Davide Tonduti, Fanny Mochel, Heather M. Hussey, Guy Helman, James Garbern, Florian Eichler, Pierre Labauge, Patrick Aubourg, Diana Rodriguez, Marc C. Patterson, Johan L.K. Van Hove, Johanna Schmidt, Nicole I. Wolf, Odile Boespflug‐Tanguy, Raphael Schiffmann, Marjo S. van der Knaap

    Published 2015
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  9. 9
    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination

    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination by 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

    Published 2014
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  10. 10
    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 by 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

    Published 2015
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  11. 11
    Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

    Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots by Thaís Armangué, Joseph J. Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A. Morrissey, Norah Nahhas, Guy Helman, Heather Gordish‐Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith Van Haren, Camilo Toro, Alejandro Iglesias, Marjo S. van der Knaap, Raphaela Goldbach Mansky, Anne B. Moser, Richard O. Jones, Adeline Vanderver

    Published 2017
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  12. 12
    Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

    Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy by Huifang Yan, Guy Helman, Swetha E. Murthy, Haoran Ji, Joanna Crawford, Thomas L. Kubisiak, Stephen J. Bent, Jiangxi Xiao, Ryan J. Taft, Adam M. Coombs, Ye Wu, Ana Pop, Dongxiao Li, Linda S. de Vries, Yuwu Jiang, Gajja S. Salomons, Marjo S. van der Knaap, Ardem Patapoutian, Cas Simons, Margit Burmeister, Jingmin Wang, Nicole I. Wolf

    Published 2019
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  13. 13
    Disease specific therapies in leukodystrophies and leukoencephalopathies

    Disease specific therapies in leukodystrophies and leukoencephalopathies by 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

    Published 2015
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  14. 14
    <i>SCN8A</i> encephalopathy: Research progress and prospects

    <i>SCN8A</i> encephalopathy: Research progress and prospects by Miriam H. Meisler, Guy Helman, Michael F. Hammer, Brandy E. Fureman, William D. Gaillard, Alan L. Goldin, Shinichi Hirose, Atsushi Ishii, Barbara L. Kroner, Christoph Lossin, Heather C. Mefford, Jack M. Parent, Manoj K. Patel, John M. Schreiber, Randall R. Stewart, Vicky Whittemore, Karen S. Wilcox, Jacy L. Wagnon, Phillip L. Pearl, Adeline Vanderver, Ingrid E. Scheffer

    Published 2016
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  15. 15
    Janus Kinase Inhibition in the Aicardi–Goutières Syndrome

    Janus Kinase Inhibition in the Aicardi–Goutières Syndrome by 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

    Published 2020
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  16. 16
    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 by 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

    Published 2020
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  17. 17
    Whole exome sequencing in patients with white matter abnormalities

    Whole exome sequencing in patients with white matter abnormalities by 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

    Published 2016
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  18. 18
    Genome sequencing in persistently unsolved white matter disorders

    Genome sequencing in persistently unsolved white matter disorders by 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

    Published 2020
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  19. 19
    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease by Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou‐Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli N. Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish‐Kumar, Vincent Procaccio, Rocío Rius, Pedro Rebelo‐Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes M. Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horváth

    Published 2023
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  20. 20
    Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease

    Biallelic <i>PI4KA</i> variants cause neurological, intestinal and immunological disease by Claire Salter, Yiying Cai, Bernice Lo, Guy Helman, Henry M. Taylor, Amber J. McCartney, Joseph S. Leslie, Andrea Accogli, Federico Zara, Monica Traverso, James Fasham, Joshua A. Lees, Matteo P. Ferla, Barry A. Chioza, Olivia Wenger, Ethan M. Scott, Harold E. Cross, Joanna Crawford, Ilka Warshawsky, Matthew Keisling, Dimitris P. Agamanolis, Catherine Ward Melver, Helen Cox, Mamoun Elawad, Tamás Marton, Matthew N. Wakeling, Dirk Holzinger, Stephan Tippelt, Martin Munteanu, Deyana Valcheva, Christin Deal, Sara Van Meerbeke, Catherine Walsh Vockley, Manish J. Butte, Utkucan Acar, Marjo S. van der Knaap, Georg Christoph Korenke, Urania Kotzaeridou, Tamás Balla, Cas Simons, Holm H. Uhlig, Andrew H. Crosby, Pietro De Camilli, Nicole I. Wolf, Emma L. Baple

    Published 2021
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