Resultats de la cerca - Peter Karachunski

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  1. 1
    Absence of IFN-γ or IL-12 Has Different Effects on Experimental Myasthenia Gravis in C57BL/6 Mice

    Absence of IFN-γ or IL-12 Has Different Effects on Experimental Myasthenia Gravis in C57BL/6 Mice per Peter Karachunski, Norma Ostlie, Cristina Monfardini, Bianca M. Conti‐Fine

    Publicat 2000
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  2. 2
    Prevention of experimental myasthenia gravis by nasal administration of synthetic acetylcholine receptor T epitope sequences.

    Prevention of experimental myasthenia gravis by nasal administration of synthetic acetylcholine receptor T epitope sequences. per Peter Karachunski, Norma Ostlie, David K. Okita, Bianca M. Conti‐Fine

    Publicat 1997
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  3. 3
    One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development

    One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development per Anne M. Connolly, Julaine Florence, Mary Michaeleen Cradock, Michelle Eagle, Kevin M. Flanigan, Craig M. McDonald, Peter Karachunski, Basil T. Darras, Kate Bushby, Elizabeth C. Malkus, Paul T. Golumbek, Craig M. Zaidman, J. Philip Miller, Jerry R. Mendell

    Publicat 2014
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  4. 4
    Outcome reliability in non‐Ambulatory Boys/Men with duchenne muscular dystrophy

    Outcome reliability in non‐Ambulatory Boys/Men with duchenne muscular dystrophy per Anne M. Connolly, Elizabeth C. Malkus, Jerry R. Mendell, Kevin M. Flanigan, J. Philip Miller, Jeanine Schierbecker, Catherine Siener, Paul T. Golumbek, Craig M. Zaidman, Craig M. McDonald, Linda B. Johnson, Alina Nicorici, Peter Karachunski, John Day, Jason M. Kelecic, Linda Lowes, Lindsay N. Alfano, Basil T. Darras, Peter B. Kang, Janet Quigley, Amy Pasternak, Julaine Florence

    Publicat 2014
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  5. 5
    Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy

    Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy per Kathryn R. Wagner, Hoda Abdel‐Hamid, Jean K. Mah, Craig Campbell, Michela Guglieri, Francesco Muntoni, Yasuhiro Takeshima, Craig M. McDonald, Anna Kostera‐Pruszczyk, Peter Karachunski, Russell J. Butterfield, Eugenio Mercuri, Chiara Fiorillo, Enrico Bertini, Cuixia Tian, Jeffrey Statland, Alesia Sadosky, Vivek S. Purohit, Sarah P. Sherlock, Jeffrey Palmer, Michael Binks, Lawrence Charnas, Shannon Marraffino, Brenda Wong

    Publicat 2020
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  6. 6
    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

    De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... per Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T. Cho, Kristin G. Monaghan, Dina Schneidman‐Duhovny, Sarah Parisotto, Johanna C. Herkert, Alexander P.A. Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne D. DeBrosse, Justin O. Szot, Gavin Chapman, Nicholas Pachter, David S. Winlaw, Bryce A. Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter Karachunski, Jane M. Lewis, Hélio Pedro, Sally L. Dunwoodie, Licia Selleri, Joseph T.C. Shieh

    Publicat 2017
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  7. 7
    <i>DMD</i> genotypes and loss of ambulation in the CINRG Duchenne Natural History Study

    <i>DMD</i> genotypes and loss of ambulation in the CINRG Duchenne Natural History Study per Luca Bello, Lauren P. Morgenroth, Heather Gordish‐Dressman, Eric P. Hoffman, Craig M. McDonald, Sebahattin Çirak, Avital Cnaan, Mathula Thangarajh, Richard T. Abresch, Erik Henricson, Venkatarman Viswanathan, Laura McAdam, Jean K. Mah, M. Tulinius, Monique M. Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Anne M. Connolly, Jean Teasley, T. E. Bertoríni, Richard Webster, Hanna Kolski, K. Gorni, Timothy Lotze, Peter Karachunski, John B. Bodensteiner, James J. Carlo

    Publicat 2016
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  8. 8
    Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network

    Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network per Anne M. Connolly, Julaine Florence, Mary Michaeleen Cradock, Elizabeth C. Malkus, Jeanine Schierbecker, Catherine Siener, Charlie Wulf, Pallavi Anand, Paul T. Golumbek, Craig M. Zaidman, J. Philip Miller, Linda Lowes, Lindsay N. Alfano, L. Viollet-Callendret, Kevin M. Flanigan, Jerry R. Mendell, Craig M. McDonald, Erica Goude, Linda B. Johnson, Alina Nicorici, Peter Karachunski, John Day, Joline Dalton, J.M. Farber, Karen K. Buser, Basil T. Darras, Peter B. Kang, Susan Riley, Elizabeth Shriber, Rebecca Parad, Kate Bushby, Michelle Eagle

    Publicat 2013
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  9. 9
    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

    TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants per Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, Alison M. Muir, Dianne Laboy Cintrón, Kirsty McWalter, Megan T. Cho, Angela Sun, J. Lawrence Merritt, Jenny Thies, Dmitriy Niyazov, Barbara K. Burton, Katherine Kim, Leah R. Fleming, Rachel Westman, Peter Karachunski, Joline Dalton, Alice Basinger, Can Fıçıcıoğlu, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Katherine L. Helbig, Almuth Caliebe, René Santer, Kolja Becker, Sharon F. Suchy, Ganka Douglas, Francisca Millan, Amber Begtrup, Kristin G. Monaghan, Heather C. Mefford

    Publicat 2018
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  10. 10
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures per Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    Publicat 2016
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  11. 11
    Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

    Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy per Marshall W. Hogarth, Peter J. Houweling, Kristen C. Thomas, Heather Gordish‐Dressman, Luca Bello, V. Vishwanathan, S Chidambaranathan, W. Douglas Biggar, Laura McAdam, Jean K. Mah, M. Tulinius, Avital Cnaan, Lauren P. Morgenroth, Robert T. Leshner, Carolina Tesi Rocha, Mathula Thangarajh, Tina Duong, Andrew J. Kornberg, Monique M. Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Hoda Abdel‐Hamid, Anne M. Connolly, Alan Pestronk, Jean Teasley, Tulio E. Bertorini, Richard Webster, Hanna Kolski, Nancy L. Kuntz, Sherilyn W. Driscoll, John B. Bodensteiner, Jose Carlo, Ksenija Gorni, Timothy Lotze, John Day, Peter Karachunski, Erik Henricson, Richard T. Abresch, Craig M. McDonald, Elena Pegoraro, Eric P. Hoffman, Stewart I. Head, Kathryn N. North

    Publicat 2017
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  12. 12
    Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids

    Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids per Craig M. McDonald, Heather Gordish‐Dressman, Erik Henricson, Tina Duong, Nanette C. Joyce, Sanjay Jhawar, Mika Leinonen, Feng‐Ming Hsu, Anne M. Connolly, Avital Cnaan, Richard T. Abresch, Alberto Dubrovsky, Andrew J. Kornberg, Monique M. Ryan, Richard Webster, W. Douglas Biggar, Laura McAdam, Jean K. Mah, Hanna Kolski, V. Vishwanathan, S Chidambaranathan, Yoram Nevo, K. Gorni, James J. Carlo, M. Tulinius, Timothy Lotze, T. E. Bertoríni, John Day, Peter Karachunski, Paula R. Clemens, Hoda Abdel‐Hamid, Jean Teasley, Nancy L. Kuntz, Stephen Driscoll, John B. Bodensteiner, Anne M. Connolly, Alan Pestronk, Richard T. Abresch, Erik Henricson, Nanette C. Joyce, Craig M. McDonald, Avital Cnaan, Lauren P. Morgenroth, Robert T. Leshner, Carolina Tesi Rocha, Mathula Thangarajh, Tina Duong

    Publicat 2018
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  13. 13
    Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

    Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study per Craig M. McDonald, Erik Henricson, Richard T. Abresch, Tina Duong, Nanette C. Joyce, Fengming Hu, Paula R. Clemens, Eric P. Hoffman, Avital Cnaan, Heather Gordish‐Dressman, Vijay Vishwanathan, S Chidambaranathan, W. Douglas Biggar, Laura McAdam, Jean K. Mah, M. Tulinius, Avital Cnaan, Lauren P. Morgenroth, Robert T. Leshner, Carolina Tesi Rocha, Mathula Thangarajh, Tina Duong, Andrew J. Kornberg, Monique M. Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Hoda Abdel‐Hamid, Anne M. Connolly, Alan Pestronk, Jean Teasley, Tulio E. Bertorin, Richard Webster, Hanna Kolski, Nancy L. Kuntz, Sherilyn W. Driscoll, John B. Bodensteiner, Jose Carlo, Ksenija Gorni, Timothy Lotze, John Day, Peter Karachunski, Erik Henricson, Richard T. Abresch, Nanette C. Joyce, Craig M. McDonald

    Publicat 2017
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  14. 14
    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement per Sandra Donkervoort, Rasha Sabouny, Pomi Yun, Laurence Gauquelin, Katherine R. Chao, Ying Hu, Iman Al Khatib, Ana Töpf, Payam Mohassel, Beryl B. Cummings, Rupleen Kaur, Dimah Saade, Steven A. Moore, Leigh B. Waddell, Michelle A. Farrar, Julia K. Goodrich, Prech Uapinyoying, H.S. Chan, Asif Javed, M. Leach, Peter Karachunski, Joline Dalton, L. Medne, A. Harper, Caroline A. Thompson, Isabelle Thiffault, Sabine Specht, Ryan E. Lamont, Carol Saunders, Hilary Racher, François Bernier, David Mowat, Nanna Witting, John Vissing, Ronald K. Hanson, Keith A. Coffman, Meagan K. Hainlen, Jillian S. Parboosingh, Amanda Carnevale, Grace Yoon, Rhonda E. Schnur, KM Boycott, Jean K. Mah, Volker Straub, A. Reghan Foley, A. Micheil Innes, Carsten G. Bönnemann, Timothy E. Shutt

    Publicat 2019
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  15. 15
    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial per Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, Richard S. Finkel, Kevin M. Flanigan, Nathalie Goemans, Peter Heydemann, Anna Kamińska, Janbernd Kirschner, Francesco Muntoni, A. Nascimento Osorio, Ulrike Schara, Thomas Sejersen, Perry B. Shieh, H. Lee Sweeney, Haluk Topaloğlu, M. Tulinius, Juan J. Vílchez, Thomas Voït, Brenda Wong, Gary Elfring, Hans Kröger, Xiaohui Luo, Joseph McIntosh, Tuyen Ong, Peter Riebling, Marcio Ferreira de Souza, Robert J. Spiegel, Stuart W. Peltz, Eugenio Mercuri, Lindsay N. Alfano, Michelle Eagle, M. James, Linda Lowes, Anna Mayhew, Elena Mazzone, Leslie Nelson, Kristy Rose, Hoda Abdel‐Hamid, Susan Apkon, Richard J. Barohn, Enrico Bertini, Clemens Bloetzer, Lausanne Canton de Vaud, Russell J. Butterfield, B. Chabrol, Jong‐Hee Chae, Daehak-ro Jongno-gu, Giacomi Pietro Comi, Basil T. Darras, Jahannaz Dastgir, Isabelle Desguerre, Raúl G. Escobar, Erika Finanger, Michela Guglieri, Imelda Hughes, Susan T. Iannaccone, Kristi Jones, Peter Karachunski, Martin Kudr, Timothy Lotze, Jean K. Mah, Katherine D. Mathews, Yoram Nevo, Julie Parsons, Yann Péréon, Alexandra Prufer de Queiroz Campos Araújo, J. Ben Renfroe, Maria Bernadete Dutra de Resende, Monique M. Ryan, Kathryn Selby, Gihan Tennekoon, Giuseppe Vita

    Publicat 2017
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  16. 16
    Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

    Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy per Luca Bello, Kevin M. Flanigan, Robert B. Weiss, Pietro Spitali, Annemieke Aartsma‐Rus, Francesco Muntoni, Irina Zaharieva, Alessandra Ferlini, Eugenio Mercuri, Sylvie Tuffery‐Giraud, Mireille Claustres, Volker Straub, Hanns Lochmüller, Andrea Barp, Sara Vianello, Elena Pegoraro, Jaya Punetha, Heather Gordish‐Dressman, Mamta Giri, Craig M. McDonald, Eric P. Hoffman, Diane M. Dunn, Kathryn J. Swoboda, Eduard Gappmaier, Michael Howard, Jacinda B. Sampson, Mark B. Bromberg, Russell J. Butterfield, Lynne M. Kerr, Alan Pestronk, Julaine Florence, Anne M. Connolly, Glenn Lopate, Paul T. Golumbek, Jeanine Schierbecker, Betsy Malkus, Renee Renna, Catherine Siener, Richard S. Finkel, Carsten G. Bönnemann, Līvija Medne, Allan M. Glanzman, Jean Flickinger, Jerry R. Mendell, Wendy King, Linda Lowes, Lindsay N. Alfano, Katherine D. Mathews, Carrie Stephan, Karla S. Laubenthal, Kris Baldwin, Brenda Wong, P. Morehart, Amy Meyer, John Day, Cameron E. Naughton, Marcia K. Margolis, Avital Cnaan, Richard T. Abresch, Erik Henricson, Lauren P. Morgenroth, Tina Duong, Vinothini Chidambaranathan, W. Douglas Biggar, Laura McAdam, Jean K. Mah, M. Tulinius, Robert T. Leshner, Carolina Tesi Rocha, Mathula Thangarajh, Andrew J. Kornberg, Monique M. Ryan, Yoram Nevo, Alberto Dubrovsky, Paula R. Clemens, Hoda Abdel‐Hamid, Anne M. Connolly, Alan Pestronk, Jean Teasley, Tulio E. Bertorini, Kathryn North, Richard Webster, Hanna Kolski, Nancy L. Kuntz, Sherilyn W. Driscoll, Jose Carlo, Ksenija Gorni, Timothy Lotze, John Day, Peter Karachunski, John B. Bodensteiner

    Publicat 2016
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