Resultados de procura - Edward Neilan

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  1. 1
    Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease

    Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease por Yuming Wang, Probir Chakravarty, Michael Ranes, Gavin Kelly, Philip J. Brooks, Edward Neilan, Aengus Stewart, Giampietro Schiavo, Jesper Q. Svejstrup

    Publicado 2014
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  2. 2
    Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry

    Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Regist... por Kenneth I. Berger, Yin‐Hsiu Chien, Alberto Dubrovsky, Priya S. Kishnani, Juan Clinton Llerena, Edward Neilan, Mark S. Roberts, Bun Sheng, Julie L. Batista, Magali Periquet, Kathryn M. Wilson, Ans T. van der Ploeg

    Publicado 2024
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  3. 3
    Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

    Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia por Virginia Kimonis, Sarju Mehta, Erin Fulchiero, Dana Thomasová, Marzia Pasquali, Kym M. Boycott, Edward Neilan, Alex Kartashov, Mark S. Forman, Stuart K. Tucker, Katerina Kimonis, Steven Mumm, Michael P. Whyte, Charles D. Smith, Giles D. Watts

    Publicado 2008
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  4. 4
    Increased oxidative phosphorylation in response to acute and chronic DNA damage

    Increased oxidative phosphorylation in response to acute and chronic DNA damage por Lear E. Brace, Sarah Vose, Kristopher J. Stanya, Rose M. Gathungu, Vasant R. Marur, Alban Longchamp, Humberto Treviño-Villarreal, Pedro Mejia, Dorathy Vargas, Karen Inouye, Roderick T. Bronson, Chih‐Hao Lee, Edward Neilan, Bruce S. Kristal, James R. Mitchell

    Publicado 2016
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  5. 5
    Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy

    Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy por Annapurna Poduri, Sameer S. Chopra, Edward Neilan, Princess C. Elhosary, Manju A. Kurian, Esther Meyer, Brenda J. Barry, Omar Khwaja, Mustafa A. Salih, Tommy Stödberg, Ingrid E. Scheffer, Eamonn R. Maher, Mustafa Şahin, Bai‐Lin Wu, Gerard T. Berry, Christopher A. Walsh, Jonathan Picker, Sanjeev V. Kothare

    Publicado 2012
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  6. 6
    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

    A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency por Barbara K. Burton, Manisha Balwani, François Feillet, Ivo Barić, T. Burrow, C. Camarena Grande, Mahmut Çöker, Alejandra Consuelo‐Sánchez, Patrick Deegan, Maja Di Rocco, Gregory M. Enns, Richard W. Erbe, Fatih Süheyl Ezgü, Can Fıçıcıoğlu, Katryn N. Furuya, John P. Kane, Christina M. Laukaitis, Eugen Mengel, Edward Neilan, S. L. Nightingale, Heidi Peters, Maurizio Scarpa, Karl Otfried Schwab, Vratislav Smolka, Vassili Valayannopoulos, Marnie J. Wood, Zachary Goodman, Yijun Yang, Stephen Eckert, Sandra Rojas-Caro, Anthony G. Quinn

    Publicado 2015
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  7. 7
    Copy number variation plays an important role in clinical epilepsy

    Copy number variation plays an important role in clinical epilepsy por Heather E. Olson, Yiping Shen, Jennifer Avallone, Beth Rosen Sheidley, Rebecca Pinsky, Ann M. Bergin, Gerard T. Berry, Frank H. Duffy, Yaman Z. Ekşioğlu, David J. Harris, Fuki M. Hisama, Eugenia Ho, Mira Irons, Christina M. Jacobsen, Philip James, Sanjeev V. Kothare, Omar Khwaja, Jonathan O. Lipton, Tobias Loddenkemper, Jennifer A. Markowitz, Kiran Maski, J. Thomas Megerian, Edward Neilan, Peter C. Raffalli, Michael Robbins, Amy E. Roberts, Eugene Roe, Caitlin K. Rollins, Mustafa Şahin, Dean Sarco, Alison Schonwald, Sharon E. Smith, Janet S. Soul, Joan M. Stoler, Masanori Takeoka, Wen‐Hann Tan, Alcy Torres, Peter T. Tsai, David K. Urion, Laura Weissman, Robert R. Wolff, Bai‐Lin Wu, David T. Miller, Annapurna Poduri

    Publicado 2014
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  8. 8
    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria por Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo

    Publicado 2023
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