Hasil Pencarian - Charlotte J. Sumner
- Menampilkan 1 - 12 hasil dari 12
-
1
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
Artikel -
2
-
3
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
Artikel -
4
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
Artikel -
5
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
Artikel -
6
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
Artikel -
7
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
Artikel -
8
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
Artikel -
9
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
Artikel -
10
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
Artikel -
11
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
Artikel -
12
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
Artikel