检索结果 - Tyler Mark Pierson

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  1. 1
    Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A

    Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A 由 Peng-Peng Zhu, Kyle Denton, Tyler Mark Pierson, Xue Jun Li, Craig Blackstone

    出版 2014
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  2. 2
    GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

    GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function 由 Wenjuan Chen, Christine Shieh, Sharon A. Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M. Graham, Suneeta Madan‐Khetarpal, Stephen F. Traynelis, Hongjie Yuan, Tyler Mark Pierson

    出版 2017
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  3. 3
    Inhibin A Is an Endocrine Stimulator of Bone Mass and Strength

    Inhibin A Is an Endocrine Stimulator of Bone Mass and Strength 由 Daniel S. Perrien, Nisreen Akel, Paul Edwards, Adam A. Carver, Manali Bendre, Frances L. Swain, Robert A. Skinner, William R. Hogue, Kristy M. Nicks, Tyler Mark Pierson, Larry J. Suva, Dana Gaddy

    出版 2006
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  4. 4
    Lysosomal abnormalities in hereditary spastic paraplegia types <scp>SPG</scp> 15 and <scp>SPG</scp> 11

    Lysosomal abnormalities in hereditary spastic paraplegia types <scp>SPG</scp> 15 and <scp>SPG</scp> 11 由 Benoît Renvoisé, Jaerak Chang, Rajat Singh, Sayuri Yonekawa, Edmond J. FitzGibbon, Ami Mankodi, Adeline Vanderver, Alice B. Schindler, Camilo Toro, William A. Gahl, Don J. Mahuran, Craig Blackstone, Tyler Mark Pierson

    出版 2014
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  5. 5
    Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

    Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy 由 Hongjie Yuan, Kasper B. Hansen, Jing Zhang, Tyler Mark Pierson, Thomas C. Markello, Karin V. Fuentes Fajardo, Conisha Holloman, Gretchen Golas, David R. Adams, Cornelius F. Boerkoel, William A. Gahl, Stephen F. Traynelis

    出版 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 由 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

    出版 2017
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  7. 7
    Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration

    Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration 由 Mariam Totonchy, Deborah Tamura, Matthew S. Pantell, Christopher Zalewski, Porcia T. Bradford, Saumil N. Merchant, Joseph B. Nadol, Sikandar G. Khan, Raphael Schiffmann, Tyler Mark Pierson, Edythe Wiggs, Andrew J. Griffith, John J. DiGiovanna, Kenneth H. Kraemer, Carmen C. Brewer

    出版 2013
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  8. 8
    Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

    Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration 由 Tyler Mark Pierson, Dimitre R. Simeonov, Murat Sincan, David A. Adams, Thomas C. Markello, Gretchen Golas, Karin Fuentes‐Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, James C. Mullikin, Craig Blackstone, Cynthia J. Tifft, Cornelius F. Boerkoel, William A. Gahl, NISC Comparative Sequencing Program

    出版 2011
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  9. 9
    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination

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

    出版 2014
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  10. 10
    <i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

    <i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine 由 Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh, Karin Fuentes‐Fajardo, David R. Adams, Thomas C. Markello, Gretchen Golas, Dimitre R. Simeonov, Conisha Holloman, Anel Tankovic, Manish Karamchandani, John M. Schreiber, James C. Mullikin, Cynthia J. Tifft, Camilo Toro, Cornelius F. Boerkoel, Stephen F. Traynelis, William A. Gahl

    出版 2014
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  11. 11
    Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

    Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases 由 Tyler Mark Pierson, David R. Adams, Florian Bonn, Paola Martinelli, Praveen F. Cherukuri, Jamie K. Teer, Nancy F. Hansen, Pedro Cruz, James C. Mullikin for the NISC Comparative Sequencing Program, Robert W. Blakesley, Gretchen Golas, Justin Kwan, Anthony D. Sandler, Karin Fuentes Fajardo, Thomas C. Markello, Cynthia J. Tifft, Craig Blackstone, Elena I. Rugarli, Thomas Langer, William A. Gahl, Camilo Toro

    出版 2011
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  12. 12
    The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

    The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases 由 William A. Gahl, Thomas C. Markello, Camilo Toro, Karin Fuentes Fajardo, Murat Sincan, Fred A. Gill, Hannah Carlson-Donohoe, Andrea Gropman, Tyler Mark Pierson, Gretchen Golas, Lynne A. Wolfe, Catherine Groden, Rena A. Godfrey, Michele Nehrebecky, Colleen E. Wahl, Dennis M.D. Landis, Sandra Yang, Anne C. Madeo, James C. Mullikin, Cornelius F. Boerkoel, Cynthia J. Tifft, David R. Adams

    出版 2012
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  13. 13
    Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in<i>C19orf12</i>

    Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in<i>C19orf12</i> 由 Guida Landouré, Peng-Peng Zhu, Charles Marques Lourenço, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangaré, Oumarou Diallo, Tyler Mark Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole D. Hein, John K. Fink, Marion Stoll, Garth A. Nicholson, Michael Gonzalez, Fiorella Speziani, Alexandra Dürr, Giovanni Stévanin, Leslie G. Biesecker, John Accardi, Dennis M.D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques, Stephan Züchner, Craig Blackstone, Kenneth H. Fischbeck, Barrington G. Burnett

    出版 2013
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  14. 14
    De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

    De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor 由 Yuchen Xu, Rui Song, Riley E. Perszyk, Wenjuan Chen, Sukhan Kim, Kristen Park, James P. Allen, Kelsey A. Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington D. McDaniels, Rehan Sheikh, Ruth Mizu, Manish Karamchandani, Chun Hu, Hirofumi Kusumoto, Joseph Pecha, Gerarda Cappuccio, John Gaitanis, Jennifer A. Sullivan, Vandana Shashi, Slavé Petrovski, Robin‐Tobias Jauss, Hyun Kyung Lee, Xiuhua Bozarth, David R. Lynch, Ingo Helbig, Tyler Mark Pierson, Cornelius F. Boerkoel, Scott J. Myers, Johannes R. Lemke, Tim A. Benke, Hongjie Yuan, Stephen F. Traynelis

    出版 2024
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  15. 15
    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

    The <i>CHD8</i> overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients 由 Philip J. Ostrowski, Anna Zachariou, Chey Loveday, Ana Beleza‐Meireles, Marta Bértoli, John Dean, Andrew G. L. Douglas, Ian O. Ellis, Alison Foster, John M. Graham, Jennifer Hague, Yvonne Hilhorst‐Hofstee, Mariëtte J.V. Hoffer, Diana Johnson, Dragana Josifova, Sarina G. Kant, Usha Kini, Katherine Lachlan, Wayne Lam, Melissa Lees, Sally Ann Lynch, Silvia Maitz, Shane McKee, Kay Metcalfe, Katherine L. Nathanson, Charlotte W. Ockeloen, Michael Parker, Tyler Mark Pierson, Elisa Rahikkala, Pedro A. Sanchez‐Lara, Alice Spano, Lionel Van Maldergem, Trevor Cole, Sofia Douzgou, Katrina Tatton‐Brown

    出版 2019
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  16. 16
    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy

    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy 由 Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong, A. Nascimento, Lorenzo Maggi, Anna Sárközy, Soledad Monges, Marta Bértoli, Hirofumi Komaki, M. Mayer, Eugenio Mercuri, Edmar Zanoteli, Claudia Castiglioni, Chiara Marini‐Bettolo, Adele D’Amico, Nicolas Deconinck, Isabelle Desguerre, Ricardo Erazo-Torricelli, Juliana Gurgel‐Giannetti, Akihiko Ishiyama, Karin Kleinsteuber, Emmanuelle Lagrue, Vincent Laugel, Sandra Mercier, Sonia Messina, Luisa Politano, Monique M. Ryan, Pascal Sabouraud, Ulrike Schara, Gabriele Siciliano, Liliana Vercelli, Thomas Voit, Grace Yoon, Rachel Alvarez, Francesco Muntoni, Tyler Mark Pierson, David Gómez‐Andrés, A. Reghan Foley, Susana Quijano‐Roy, Carsten G. Bönnemann, Gisèle Bonne

    出版 2021
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  17. 17
    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

    Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations 由 Ratna Tripathy, Ines Leca, Tessa van Dijk, Janneke Weiss, Bregje W.M. van Bon, Maria Christina Sergaki, Thomas Gstrein, Martin W. Breuss, Guoling Tian, Nadia Bahi‐Buisson, Alexander Paciorkowski, Alistair T. Pagnamenta, Andrea Wenninger-Weinzierl, Maria Fernanda Martinez-Reza, Lukas Landler, Stefano Lise, Jenny C. Taylor, Gaetano Terrone, Giuseppina Vitiello, Ennio Del Giudice, Nicola Brunetti‐Pierri, Alessandra D’Amico, Alexandre Reymond, Norine Voisin, Jonathan A. Bernstein, Ellyn Farrelly, Usha Kini, Thomas A. Leonard, Stéphanie Valence, Lydie Bürglen, Linlea Armstrong, Susan M. Hiatt, Gregory M. Cooper, Kimberly A. Aldinger, William B. Dobyns, Ghayda Mirzaa, Tyler Mark Pierson, Frank Baas, Jamel Chelly, Nicholas J. Cowan, David A. Keays

    出版 2018
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  18. 18
    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <sc... 由 Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, María J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie Hauser, Evan Reid, Patricia Blanchet, Nichola Foulds, Abhijit Dixit, Richard Fisher, Ruth Armstrong, Bertrand Isidor, Benjamin Cogné, Samantha A. Schrier Vergano, Serwet Demirdas, Natalie Dykzeul, Julie S. Cohen, Katheryn Grand, Dayna Morel Swols, Anne Slavotinek, Hessa F. Albassam, Swati Naik, John Dean, Nicola Ragge, Cinzia Costa, Maria Giovanna Tedesco, Rachel Harrison, Arjan Bouman, Emily Palen, Thomas D. Challman, Marjolein H. Willemsen, Julie Vogt, Christopher Cunniff, Katherine Bergstrom, Jagdeep S. Walia, Ange‐Line Bruel, Usha Kini, Fowzan S. Alkuraya, Valerie Slegesky, Naomi Meeks, Paula Natale Girotto, Diana Johnson, Ruth Newbury‐Ecob, Charlotte W. Ockeloen, Paolo Prontera, Sally Ann Lynch, Dong Li, John M. Graham, Tyler Mark Pierson, Meena Balasubramanian

    出版 2021
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  19. 19
    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

    SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals 由 Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian Hon‐Yin Chung, Julie S. Cohen, David Coman, Katrina M. Dipple, Naghmeh Dorrani, William B. Dobyns, Abdallah F. Elias, Leon G. Epstein, William A. Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George Hoganson, Jesse M. Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Cathryn M. Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A. Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy G. Mitchell, Hiltrud Muhle, Stanley F. Nelson, Mariusz Olczak, Christina G.S. Palmer, Arthur Partikian, Marc C. Patterson, Tyler Mark Pierson, Shane C. Quinonez, Brigid M. Regan, M. Elizabeth Ross, María J. Guillen Sacoto, Fernando Scaglia, Ingrid E. Scheffer, Devorah Segal, Nilika S. Singhal, Pasquale Striano, Luisa Sturiale, Joseph D. Symonds, Sha Tang, Éric Vilain, Mary Willis, Lynne A. Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F. Suchy, Jill A. Rosenfeld, Andrew C. Edmondson, Stephanie Grünewald, Hudson H. Freeze

    出版 2019
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  20. 20
    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

    Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy 由 Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker‐Ravi, Hankun Li, Sarah B. Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam Marzouqa, Meral Gunay‐Aygun, Michael Muriello, Hélène Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A.A.P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah Tamim, Mais Hashem, Moeenaldeen AlSayed, Maha Abdulrahim, Mohammed Al‐Owain, Ali Awaji, Adel Mahmoud, Eissa Faqeih, Ali Al Asmari, Sulwan Algain, Lamyaa Jad, Hesham Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Rieß, Ingeborg Kraegeloh‐Mann, Peter Bauer, Süleyman Gülsüner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura Schultz‐Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor‐Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James Stewart, Adam Claridge‐Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph Barycki, Melanie A. Simpson, Saumya Shekhar Jamuar, Lüdger Schöls, Bruno Reversade

    出版 2020
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