Hasil Pencarian - Anthony Antonellis

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  1. 1
    SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells

    SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells oleh Elizabeth A. Fogarty, Jacob O. Kitzman, Anthony Antonellis

    Diterbitkan 2020-08-01
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  2. 2
    A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve

    A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve oleh William D. Law, Elizabeth A. Fogarty, Aimée Vester, Anthony Antonellis

    Diterbitkan 2018-05-01
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  3. 3
    Translatomic analysis of regenerating and degenerating spinal motor neurons in injury and ALS

    Translatomic analysis of regenerating and degenerating spinal motor neurons in injury and ALS oleh Jennifer L. Shadrach, Wesley M. Stansberry, Allison M. Milen, Rachel E. Ives, Elizabeth A. Fogarty, Anthony Antonellis, Brian A. Pierchala

    Diterbitkan 2021-07-01
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  4. 4
    Correction: The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan.

    Correction: The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan. oleh Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Anthony Antonellis, Yi-Chung Lee

    Diterbitkan 2012-01-01
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  5. 5
    The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

    The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. oleh Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Anthony Antonellis, Yi-Chung Lee

    Diterbitkan 2011-01-01
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  6. 6
    Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.

    Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. oleh William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck, Robert W Burgess

    Diterbitkan 2011-12-01
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  7. 7
    Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.

    Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. oleh Anthony Antonellis, Jimmy L Huynh, Shih-Queen Lee-Lin, Ryan M Vinton, Gabriel Renaud, Stacie K Loftus, Gene Elliot, Tyra G Wolfsberg, Eric D Green, Andrew S McCallion, William J Pavan

    Diterbitkan 2008-09-01
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  8. 8
    A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

    A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants oleh Rebecca Meyer-Schuman, Allison R. Cale, Jennifer A. Pierluissi, Kira E. Jonatzke, Young N. Park, Guy M. Lenk, Stephanie N. Oprescu, Marina A. Grachtchouk, Andrzej A. Dlugosz, Asim A. Beg, Miriam H. Meisler, Anthony Antonellis

    Diterbitkan 2024-07-01
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  9. 9
    A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.

    A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo. oleh Anthony Antonellis, Megan Y Dennis, Grzegorz Burzynski, Jimmy Huynh, Valerie Maduro, Chani J Hodonsky, Mehrdad Khajavi, Kinga Szigeti, Sandeep Mukkamala, Seneca L Bessling, William J Pavan, Andrew S McCallion, James R Lupski, Eric D Green, NISC Comparative Sequencing Program

    Diterbitkan 2010-12-01
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  10. 10
    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

    Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy oleh Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

    Diterbitkan 2015-08-01
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  11. 11
    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish oleh Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe

    Diterbitkan 2019-02-01
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