Hasil Pencarian - Charlotte J. Sumner

  • Menampilkan 1 - 12 hasil dari 12
Perbaiki Hasil
  1. 1
    Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons.

    Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons. oleh Ximena Paez-Colasante, Bonnie Seaberg, Tara L Martinez, Lingling Kong, Charlotte J Sumner, Mendell Rimer

    Diterbitkan 2013-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    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:
  3. 3
    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:
  4. 4
    TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease

    TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease oleh Do Hoon Kwon, Feng Zhang, Brett A. McCray, Shasha Feng, Meha Kumar, Jeremy M. Sullivan, Wonpil Im, Charlotte J. Sumner, Seok-Yong Lee

    Diterbitkan 2023-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    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:
  6. 6
    Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension

    Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension oleh Brett A. McCray, Erika Diehl, Jeremy M. Sullivan, William H. Aisenberg, Nicholas W. Zaccor, Alexander R. Lau, Dominick J. Rich, Benedikt Goretzki, Ute A. Hellmich, Thomas E. Lloyd, Charlotte J. Sumner

    Diterbitkan 2021-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity

    Crosstalk between regulatory elements in disordered TRPV4 N-terminus modulates lipid-dependent channel activity oleh Benedikt Goretzki, Christoph Wiedemann, Brett A. McCray, Stefan L. Schäfer, Jasmin Jansen, Frederike Tebbe, Sarah-Ana Mitrovic, Julia Nöth, Ainara Claveras Cabezudo, Jack K. Donohue, Cy M. Jeffries, Wieland Steinchen, Florian Stengel, Charlotte J. Sumner, Gerhard Hummer, Ute A. Hellmich

    Diterbitkan 2023-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    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:
  9. 9
    Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus

    Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus oleh Beltran Borges, Antonia Varthaliti, Marisa Schwab, Maria T. Clarke, Christopher Pivetti, Nalin Gupta, Cathryn R. Cadwell, Ghiabe Guibinga, Shirley Phillips, Tony Del Rio, Fatih Ozsolak, Denise Imai-Leonard, Lingling Kong, Diana J. Laird, Akos Herzeg, Charlotte J. Sumner, Tippi C. MacKenzie

    Diterbitkan 2024-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation

    Boosting neuregulin 1 type-III expression hastens SMA motor axon maturation oleh Lingling Kong, Cera W. Hassinan, Florian Gerstner, Jannik M. Buettner, Jeffrey B. Petigrow, David O. Valdivia, Michelle H. Chan-Cortés, Amy Mistri, Annie Cao, Scott Alan McGaugh, Madeline Denton, Stephen Brown, Joshua Ross, Markus H. Schwab, Christian M. Simon, Charlotte J. Sumner

    Diterbitkan 2023-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+

    TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+ oleh Brian M. Woolums, Brett A. McCray, Hyun Sung, Masashi Tabuchi, Jeremy M. Sullivan, Kendra Takle Ruppell, Yunpeng Yang, Catherine Mamah, William H. Aisenberg, Pamela C. Saavedra-Rivera, Bryan S. Larin, Alexander R. Lau, Douglas N. Robinson, Yang Xiang, Mark N. Wu, Charlotte J. Sumner, Thomas E. Lloyd

    Diterbitkan 2020-05-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Dominant collagen XII mutations cause a distal myopathy

    Dominant collagen XII mutations cause a distal myopathy oleh Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann

    Diterbitkan 2019-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: