The Development of Robust Antibodies to Sarcospan, a Dystrophin- and Integrin-Associated Protein, for Basic and Translational Research by Mokhonova, Ekaterina I, Malik, Ravinder, Mamsa, Hafsa, Walker, Jackson, Gibbs, Elizabeth M, Crosbie, Rachelle H

Get full text

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia by Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B, McLean, Catriona A, Kornberg, Andrew J, Joseph, Jörg, Lockhart, Paul J, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, Koehler, Carla M, Jen, Joanna C

Get full text

Multi-omics analysis of sarcospan overexpression in mdx skeletal muscle reveals compensatory remodeling of cytoskeleton-matrix interactions that promote mechanotransduction pathway... by McCourt, Jackie L, Stearns-Reider, Kristen M, Mamsa, Hafsa, Kannan, Pranav, Afsharinia, Mohammad Hossein, Shu, Cynthia, Gibbs, Elizabeth M, Shin, Kara M, Kurmangaliyev, Yerbol Z, Schmitt, Lauren R, Hansen, Kirk C, Crosbie, Rachelle H

Get full text

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea by Shook, Steven J., Mamsa, Hafsa, Jen, Joanna C., Baloh, Robert W., Zhou, Lan

Get full text

Sarcospan increases laminin-binding capacity of α-dystroglycan to ameliorate DMD independent of Galgt2 by Mamsa, Hafsa, Stark, Rachelle L, Shin, Kara M, Beedle, Aaron M, Crosbie, Rachelle H

Get full text

Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease by Macaron, Gabrielle, Khoury, Jean, Hajj-Ali, Rula A., Prayson, Richard A., Srivastava, Sunil, Ehlers, Justis P., Mamsa, Hafsa, Liszewski, M. Kathryn, Jen, Joanna C., Bermel, Robert A., Ontaneda, Daniel

Get full text

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism by Blanco-Arias, Patricia, Einholm, Anja P., Mamsa, Hafsa, Concheiro, Carla, Gutiérrez-de-Terán, Hugo, Romero, Jesús, Toustrup-Jensen, Mads S., Carracedo, Ángel, Jen, Joanna C., Vilsen, Bente, Sobrido, María-Jesús

Get full text

A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity by Lee, Hane, Jen, Joanna C., Wang, Hui, Chen, Zugen, Mamsa, Hafsa, Sabatti, Chiara, Baloh, Robert W., Nelson, Stanley F.

Get full text

Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2 by Wan, Jijun, Mamsa, Hafsa, Johnston, Janine L, Spriggs, Elizabeth L, Singer, Harvey S, Zee, David S, Al-Bayati, Alhamza R, Baloh, Robert W, Jen, Joanna C

Get full text

Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease by Macaron, Gabrielle, Khoury, Jean, Hajj-Ali, Rula A, Prayson, Richard A, Srivastava, Sunil, Ehlers, Justis P, Mamsa, Hafsa, Liszewski, M Kathryn, Jen, Joanna C, Bermel, Robert A, Ontaneda, Daniel

Get full text