Collective Statement Regarding Patient Access to Approved Therapies from the Center Directors of Parent Project Muscular Dystrophy’s Certified Duchenne Care Centers

por Ionita, Cristian, Kinnett, Kathi, Mathews, Katherine
Publicado 2018

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis

por Rieken, Autumn, Bossler, Aaron D., Mathews, Katherine D., Moore, Steven A.
Publicado 2021

Spigelia genuflexa (Loganiaceae), a new geocarpic species from the Atlantic forest of northeastern Bahia, Brazil

por Popovkin, Alex V., Mathews, Katherine G., Santos, José Carlos Mendes, Molina, M. Carmen, Struwe, Lena
Publicado 2011

Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP- predominant)

por Gonzalez-Perez, Paloma, Smith, Cheryl, Sebetka, Wendy L., Gedlinske, Amber, Perlman, Seth, Mathews, Katherine D
Publicado 2020

Needs management in families affected by childhood-onset dystrophinopathies

por Conway, Kristin M, Eichinger, Katy, Trout, Christina, Romitti, Paul A, Mathews, Katherine D, Pandya, Shree K
Publicado 2019

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

por Ajjarapu, Aparna, Feely, Shawna M.E., Shy, Michael E., Trout, Christina, Zuchner, Stephan, Moore, Steven A., Mathews, Katherine D.
Publicado 2023

Brain structure in juvenile-onset Huntington disease

por Tereshchenko, Alexander, Magnotta, Vincent, Epping, Eric, Mathews, Katherine, Espe-Pfeifer, Patricia, Martin, Erin, Dawson, Jeffrey, Duan, Wenzhen, Nopoulos, Peg
Publicado 2019

Developmental Trajectory of Height, Weight, and BMI in Children and Adolescents at Risk for Huntington’s Disease: Effect of mHTT on Growth

por Tereshchenko, Alexander, van der Plas, Ellen, Mathews, Katherine D., Epping, Eric, Conrad, Amy L., Langbehn, Douglas R., Nopoulos, Peg
Publicado 2020

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle

por Dialynas, George, Flannery, Kaitlin M., Zirbel, Luka N., Nagy, Peter L., Mathews, Katherine D., Moore, Steven A., Wallrath, Lori L.
Publicado 2012

Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)

por Mathews, Katherine D., Conway, Kristin M., Gedlinske, Amber M., Johnson, Nicholas, Street, Natalie, Butterfield, Russell J., Hung, Man, Ciafaloni, Emma, Romitti, Paul A.
Publicado 2021

Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources

por Frishman, Natalia, Conway, Kristin Caspers, Andrews, Jennifer, Oleson, Jacob, Mathews, Katherine, Ciafaloni, Emma, Oleszek, Joyce, Lamb, Molly, Matthews, Dennis, Paramsothy, Pangaja, McKirgan, Lowell, Romitti, Paul
Publicado 2017

Longitudinal analysis of contrast acuity in Friedreich ataxia

por Hamedani, Ali G., Hauser, Lauren A., Perlman, Susan, Mathews, Katherine, Wilmot, George R., Zesiewicz, Theresa, Subramony, S.H., Ashizawa, Tetsuo, Delatycki, Martin B., Brocht, Alicia, Lynch, David R.
Publicado 2018

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)

por Jayakody, Himali, Zarei, Sanam, Nguyen, Huy, Dalton, Joline, Chen, Kelly, Hudgins, Louanne, Day, John, Withrow, Kara, Pandya, Arti, Teasley, Jean, Dobyns, William B, Mathews, Katherine D, Moore, Steven A
Publicado 2020

A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

por Marcelot, Agathe, Rodriguez-Tirado, Felipe, Cuniasse, Philippe, Joiner, Mei-ling, Miron, Simona, Soshnev, Alexey A., Fang, Mimi, Pufall, Miles A., Mathews, Katherine D., Moore, Steven A., Zinn-Justin, Sophie, Geyer, Pamela K.
Publicado 2023

Genotype-phenotype correlations in recessive RYR1-related myopathies

por Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J
Publicado 2013

Diagnostic approach to the congenital muscular dystrophies

por Bönnemann, Carsten G., Wang, Ching H., Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D., Moore, Steven A., Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N.
Publicado 2014

Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related

por Libell, Eric M., Richardson, Julia A., Lutz, Katie L., Ng, Benton Y., Mockler, Shelley R. H., Laubscher, Katie M., Stephan, Carrie M., Zimmerman, Bridget M., Edens, Erik R., Reinking, Benjamin E., Mathews, Katherine D.
Publicado 2020

Psychometric properties of the Friedreich Ataxia Rating Scale

por Rummey, Christian, Corben, Louise A., Delatycki, Martin B., Subramony, S.H., Bushara, Khalaf, Gomez, Christopher M., Hoyle, Joseph Chad, Yoon, Grace, Ravina, Bernard, Mathews, Katherine D., Wilmot, George, Zesiewicz, Theresa, Perlman, Susan, Farmer, Jennifer M., Lynch, David R.
Publicado 2019

Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design

por Rummey, Christian, Corben, Louise A., Delatycki, Martin, Wilmot, George, Subramony, Sub H., Corti, Manuela, Bushara, Khalaf, Duquette, Antoine, Gomez, Christopher, Hoyle, J. Chad, Roxburgh, Richard, Seeberger, Lauren, Yoon, Grace, Mathews, Katherine, Zesiewicz, Theresa, Perlman, Susan, Lynch, David R.
Publicado 2022

Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)

por Lynch, David R., Chin, Melanie P., Delatycki, Martin B., Subramony, S. H., Corti, Manuela, Hoyle, J. Chad, Boesch, Sylvia, Nachbauer, Wolfgang, Mariotti, Caterina, Mathews, Katherine D., Giunti, Paola, Wilmot, George, Zesiewicz, Theresa, Perlman, Susan, Goldsberry, Angie, O'Grady, Megan, Meyer, Colin J.
Publicado 2020