検索結果 - Hart G.W. Lidov
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Activation of paternally expressed genes and perinatal death caused by deletion of the<i>Gtl2</i>gene 著者: Yunli Zhou, Pornsuk Cheunsuchon, Yuki Nakayama, Michael W. Lawlor, Ying Zhong, Kimberley A. Rice, Li Zhang, Xun Zhang, Francesca E. Gordon, Hart G.W. Lidov, Roderick T. Bronson, Anne Klibanski
出版事項 2010Artigo -
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<i>AIFM1</i> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant 著者: Sarah U. Morton, Sanjay P. Prabhu, Hart G.W. Lidov, Jiahai Shi, Irina Anselm, Catherine A. Brownstein, Matthew N. Bainbridge, Alan H. Beggs, Sara O. Vargas, Pankaj B. Agrawal
出版事項 2017Artigo -
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Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies 著者: Yiu-mo Chan, Elizabeth Keramaris‐Vrantsis, Hart G.W. Lidov, James H. Norton, Natalia Zinchenko, Helen E. Gruber, Randy Thresher, Derek J. Blake, Jignya Ashar, Jeffrey Rosenfeld, Qi Long Lu
出版事項 2010Artigo -
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Sonic Hedgehog promotes proliferation of Notch-dependent monociliated choroid plexus tumour cells 著者: Li Li, Katie B. Grausam, Jun Wang, Melody P. Lun, Jasmin Ohli, Hart G.W. Lidov, Monica L. Calicchio, Erliang Zeng, Jeffrey L. Salisbury, Robert J. Wechsler‐Reya, Maria K. Lehtinen, Ulrich Schüller, Haotian Zhao
出版事項 2016Artigo -
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Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy 著者: Elizabeth M. McNally, David Duggan, J.Rafael M. Gorospe, Carsten G. Bönnemann, Francesco Mari, Elena Pegoraro, Hart G.W. Lidov, S. Noguchi, Eijiro Ozawa, Richard S. Finkel, Robert P. Cruse, C. Angelini, Louis M. Kunkel, Eric P. Hoffman
出版事項 1996Artigo -
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Distinctive patterns of microRNA expression in primary muscular disorders 著者: Iris Eisenberg, Alal Eran, Ichizo Nishino, Maurizio Moggio, C. Lamperti, Anthony A. Amato, Hart G.W. Lidov, Peter B. Kang, Kathryn N. North, Stella Mitrani‐Rosenbaum, Kevin M. Flanigan, Lori A. Neely, Duncan Whitney, Alan H. Beggs, Isaac S. Kohane, Louis M. Kunkel
出版事項 2007Artigo -
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The choroid plexus synergizes with immune cells during neuroinflammation 著者: Huixin Xu, Peter Lotfy, Sivan Gelb, Aja Pragana, Christine Hehnly, Lillian Byer, Frederick B. Shipley, Miriam E. Zawadzki, Jin Cui, Liwen Deng, Milo Taylor, Mya Webb, Hart G.W. Lidov, Mark L. Andermann, Isaac M. Chiu, José Ordovás-Montañés, Maria K. Lehtinen
出版事項 2024Artigo -
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Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations 著者: Joshua E. Mangum, Justin P. Hardee, Dennis K. Fix, Melissa Puppa, Johnathon Elkes, Diego Altomare, Yelena Bykhovskaya, Dean R. Campagna, Paul J. Schmidt, Anoop K. Sendamarai, Hart G.W. Lidov, Shayne C. Barlow, Nathan Fischel‐Ghodsian, Mark D. Fleming, James A. Carson, Jeffrey R. Patton
出版事項 2016Artigo -
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Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation 著者: Emanuela Gussoni, Richard Rodney Bennett, Kristina R. Muskiewicz, Todd E. Meyerrose, Jan A. Nolta, Irene Gilgoff, James H. Stein, Yiu-mo Chan, Hart G.W. Lidov, Carsten G. Bönnemann, Arpad von Moers, Glenn E. Morris, Johan T. den Dunnen, Jeffrey S. Chamberlain, Louis M. Kunkel, Kenneth I. Weinberg
出版事項 2002Artigo -
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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States 著者: Hemakumar M. Reddy, Kyung‐Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D. Jones, Satomi Mitsuhashi, Basil T. Darras, Anthony A. Amato, Hart G.W. Lidov, Catherine A. Brownstein, David Margulies, Timothy W. Yu, Mustafa A. Salih, Louis M. Kunkel, Daniel G. MacArthur, Peter B. Kang
出版事項 2016Artigo -
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Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation 著者: Emanuela Gussoni, Richard Rodney Bennett, Kristina R. Muskiewicz, Todd E. Meyerrose, Jan A. Nolta, Irene Gilgoff, James H. Stein, Yiu-mo Chan, Hart G.W. Lidov, Carsten G. Bönnemann, Arpad von Moers, Glenn E. Morris, Johan T. den Dunnen, Jeffrey S. Chamberlain, Louis M. Kunkel, Kenneth I. Weinberg
出版事項 2002Artigo
関連主題
Biology
Gene
Genetics
Medicine
Internal medicine
Cell biology
Muscular dystrophy
Pathology
Mutation
Duchenne muscular dystrophy
Neuroscience
Dystrophin
Skeletal muscle
Anatomy
Biochemistry
Epilepsy
Exome sequencing
Phenotype
Immunology
Molecular biology
Myopathy
Signal transduction
Cancer research
Cell
Central nervous system
Choroid plexus
Cortical dysplasia
Endocrinology
Exome
Gene expression