Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States

by Cathy Lally, Cynthia Jones, Wildon Farwell, Sandra P. Reyna, Suzanne F. Cook, W. Dana Flanders
Published 2017-11-01

Phase II open label study of valproic acid in spinal muscular atrophy.

by 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
Published 2009-01-01

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.

by 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
Published 2011-01-01

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

by 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
Published 2010-08-01

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

by Amy Bartlett, Stephen J. Kolb, Allison Kingsley, Kathryn J. Swoboda, Sandra P. Reyna, Ai Sakonju, Basil T. Darras, Richard Shell, Nancy Kuntz, Diana Castro, Susan T. Iannaccone, Julie Parsons, Anne M. Connolly, Claudia A. Chiriboga, Craig McDonald, W. Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B. Shieh, Erika Finanger, Christopher S. Coffey, Jon W. Yankey, Merit E. Cudkowicz, Michelle M. McGovern, D. Elizabeth McNeil, W. David Arnold, John T. Kissel
Published 2018-09-01

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

by Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Published 2015-01-01

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

by Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Published 2015-01-01