অনুসন্ধান ফলাফলগুলি - Peter Karachunski
- প্রদর্শন 1 - 16 ফলাফল এর 16
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One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development অনুযায়ী 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
প্রকাশিত 2014Artigo -
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Outcome reliability in non‐Ambulatory Boys/Men with duchenne muscular dystrophy অনুযায়ী 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
প্রকাশিত 2014Artigo -
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Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy অনুযায়ী 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
প্রকাশিত 2020Artigo -
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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental de... অনুযায়ী 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
প্রকাশিত 2017Artigo -
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<i>DMD</i> genotypes and loss of ambulation in the CINRG Duchenne Natural History Study অনুযায়ী 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
প্রকাশিত 2016Artigo -
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Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network অনুযায়ী 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
প্রকাশিত 2013Artigo -
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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants অনুযায়ী 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
প্রকাশিত 2018Artigo -
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures অনুযায়ী 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
প্রকাশিত 2016Artigo -
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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy অনুযায়ী 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
প্রকাশিত 2017Artigo -
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Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoids অনুযায়ী 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
প্রকাশিত 2018Artigo -
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Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study অনুযায়ী 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
প্রকাশিত 2017Artigo -
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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement অনুযায়ী 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
প্রকাশিত 2019Artigo -
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Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial অনুযায়ী 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
প্রকাশিত 2017Artigo -
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Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy অনুযায়ী 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
প্রকাশিত 2016Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Medicine
Internal medicine
Duchenne muscular dystrophy
Biology
Gene
Genetics
Pediatrics
Clinical trial
Mutation
Physical therapy
Endocrinology
Missense mutation
Muscular dystrophy
Pathology
Acetylcholine receptor
Alternative medicine
Ambulatory
Bayley Scales of Infant Development
Bioinformatics
Chemistry
Clinical endpoint
Cognition
Confidence interval
Developmental psychology
Exome sequencing
Genotype
Gross motor skill
Immunology
Motor skill
Myasthenia gravis