Hasil Pencarian - Thomas O. Crawford

  • Menampilkan 1 - 18 hasil dari 18
Perbaiki Hasil
  1. 1
    The Neurobiology of Childhood Spinal Muscular Atrophy

    The Neurobiology of Childhood Spinal Muscular Atrophy oleh Thomas O. Crawford, Carlos A. Pardo

    Diterbitkan 1996-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Disorders of Upper Limb Movements in Ataxia-Telangiectasia.

    Disorders of Upper Limb Movements in Ataxia-Telangiectasia. oleh Aasef G Shaikh, David S Zee, Allen S Mandir, Howard M Lederman, Thomas O Crawford

    Diterbitkan 2013-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases

    The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases oleh Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A Schäffer, Charlotte J Sumner, Eytan Ruppin

    Diterbitkan 2020-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    Ataxia telangiectasia: a review

    Ataxia telangiectasia: a review oleh Cynthia Rothblum-Oviatt, Jennifer Wright, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Thomas O. Crawford, Howard M. Lederman

    Diterbitkan 2016-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs

    SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs oleh Sarah Tisdale, Francesco Lotti, Luciano Saieva, James P. Van Meerbeke, Thomas O. Crawford, Charlotte J. Sumner, George Z. Mentis, Livio Pellizzoni

    Diterbitkan 2013-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

    Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations oleh Michele A. Lloyd-Puryear, Thomas O. Crawford, Amy Brower, Kristin Stephenson, Tracy Trotter, Edward Goldman, Aaron Goldenberg, R. Rodney Howell, Annie Kennedy, Michael Watson

    Diterbitkan 2018-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function

    TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function oleh Arens Taga, Margo A. Peyton, Benedikt Goretzki, Thomas Q. Gallagher, Ann Ritter, Amy Harper, Thomas O. Crawford, Ute A. Hellmich, Charlotte J. Sumner, Brett A. McCray

    Diterbitkan 2022-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Correction to: Growth in ataxia telangiectasia

    Correction to: Growth in ataxia telangiectasia oleh Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman

    Diterbitkan 2021-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Growth in ataxia telangiectasia

    Growth in ataxia telangiectasia oleh Valerie A. I. Natale, Tim J. Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Howard M. Lederman

    Diterbitkan 2021-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study

    Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study oleh Thomas O. Crawford, John W. Day, Darryl C. De Vivo, Jena M. Krueger, Eugenio Mercuri, Eugenio Mercuri, Andres Nascimento, Amy Pasternak, Elena Stacy Mazzone, Tina Duong, Guochen Song, Jing L. Marantz, Scott Baver, Dongzi Yu, Lan Liu, Basil T. Darras

    Diterbitkan 2024-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Neurofilament as a potential biomarker for spinal muscular atrophy

    Neurofilament as a potential biomarker for spinal muscular atrophy oleh Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J. Sumner

    Diterbitkan 2019-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.

    Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. oleh Richard S Finkel, Thomas O Crawford, Kathryn J Swoboda, Petra Kaufmann, Peter Juhasz, Xiaohong Li, Yu Guo, Rebecca H Li, Felicia Trachtenberg, Suzanne J Forrest, Dione T Kobayashi, Karen S Chen, Cynthia L Joyce, Thomas Plasterer, Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group

    Diterbitkan 2012-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.

    Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. oleh Thomas O Crawford, Sergey V Paushkin, Dione T Kobayashi, Suzanne J Forrest, Cynthia L Joyce, Richard S Finkel, Petra Kaufmann, Kathryn J Swoboda, Danilo Tiziano, Rosa Lomastro, Rebecca H Li, Felicia L Trachtenberg, Thomas Plasterer, Karen S Chen, Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group

    Diterbitkan 2012-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Phase II open label study of valproic acid in spinal muscular atrophy.

    Phase II open label study of valproic acid in spinal muscular atrophy. oleh Kathryn J Swoboda, Charles B Scott, Sandra P Reyna, Thomas W Prior, Bernard LaSalle, Susan L Sorenson, Janine Wood, Gyula Acsadi, Thomas O Crawford, John T Kissel, Kristin J Krosschell, Guy D'Anjou, Mark B Bromberg, Mary K Schroth, Gary M Chan, Bakri Elsheikh, Louise R Simard

    Diterbitkan 2009-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.

    SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy. oleh John T Kissel, Charles B Scott, Sandra P Reyna, Thomas O Crawford, Louise R Simard, Kristin J Krosschell, Gyula Acsadi, Bakri Elsheik, Mary K Schroth, Guy D'Anjou, Bernard LaSalle, Thomas W Prior, Susan Sorenson, Jo Anne Maczulski, Mark B Bromberg, Gary M Chan, Kathryn J Swoboda, Project Cure Spinal Muscular Atrophy Investigators' Network

    Diterbitkan 2011-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

    SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy. oleh Kathryn J Swoboda, Charles B Scott, Thomas O Crawford, Louise R Simard, Sandra P Reyna, Kristin J Krosschell, Gyula Acsadi, Bakri Elsheik, Mary K Schroth, Guy D'Anjou, Bernard LaSalle, Thomas W Prior, Susan L Sorenson, Jo Anne Maczulski, Mark B Bromberg, Gary M Chan, John T Kissel, Project Cure Spinal Muscular Atrophy Investigators Network

    Diterbitkan 2010-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    SMA-MAP: a plasma protein panel for spinal muscular atrophy.

    SMA-MAP: a plasma protein panel for spinal muscular atrophy. oleh Dione T Kobayashi, Jing Shi, Laurie Stephen, Karri L Ballard, Ruth Dewey, James Mapes, Brett Chung, Kathleen McCarthy, Kathryn J Swoboda, Thomas O Crawford, Rebecca Li, Thomas Plasterer, Cynthia Joyce, Biomarkers for Spinal Muscular Atrophy Study Group, Wendy K Chung, Petra Kaufmann, Basil T Darras, Richard S Finkel, Douglas M Sproule, William B Martens, Michael P McDermott, Darryl C De Vivo, Pediatric Neuromuscular Clinical Research Network, Michael G Walker, Karen S Chen

    Diterbitkan 2013-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    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
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: