Improvement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neurons.

by Ximena Paez-Colasante, Bonnie Seaberg, Tara L Martinez, Lingling Kong, Charlotte J Sumner, Mendell Rimer
Published 2013-01-01

The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases

by Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A Schäffer, Charlotte J Sumner, Eytan Ruppin
Published 2020-12-01

SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs

by Sarah Tisdale, Francesco Lotti, Luciano Saieva, James P. Van Meerbeke, Thomas O. Crawford, Charlotte J. Sumner, George Z. Mentis, Livio Pellizzoni
Published 2013-12-01

Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension

by 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
Published 2021-03-01

Neurofilament as a potential biomarker for spinal muscular atrophy

by 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
Published 2019-05-01

TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2+

by 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
Published 2020-05-01

Dominant collagen XII mutations cause a distal myopathy

by 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
Published 2019-10-01