Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology.

per Mathews, Katherine D.
Publicat 2005

Dystrophinopathy muscle biopsies in the genetic testing era: one center’s data

per Carlson, Courtney R, Moore, Steven A, Mathews, Katherine D
Publicat a Muscle Nerve (2018)

The use of bone age for evaluating bone density in patients with Duchenne muscular dystrophy: a preliminary report

per Al-Zougbi, Asma, Mathews, Katherine D., Shibli-Rahhal, Amal
Publicat a Muscle Nerve (2019)

Descriptive phenotype of obsessive compulsive symptoms in males with Duchenne Muscular Dystrophy

per Lee, Angela J, Buckingham, Edward T, Kauer, Aaron J, Mathews, Katherine D
Publicat a J Child Neurol (2018)

CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis

per Rieken, Autumn, Bossler, Aaron D., Mathews, Katherine D., Moore, Steven A.
Publicat a Neurology (2021)

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon binding domain of GARS

per Eskuri, Jamie M., Stanley, Christine M., Moore, Steven A., Mathews, Katherine D.
Publicat 2012

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy

per Lutz, Katie L., Holte, Lenore, Kliethermes, Stephanie A., Stephan, Carrie, Mathews, Katherine D.
Publicat 2013

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

per Gonzalez-Perez, Paloma, Smith, Cheryl, Sebetka, Wendy L., Gedlinske, Amber, Perlman, Seth, Mathews, Katherine D
Publicat a Neuromuscul Disord (2020)

Needs management in families affected by childhood-onset dystrophinopathies

per Conway, Kristin M, Eichinger, Katy, Trout, Christina, Romitti, Paul A, Mathews, Katherine D, Pandya, Shree K
Publicat a SAGE Open Med (2019)

Neurobehavioral Concerns among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network

per Conway, Kristin Caspers, Mathews, Katherine D., Paramsothy, Pangaja, Oleszek, Joyce, Trout, Christina, Zhang, Ying, Romitti, Paul A.
Publicat a J Dev Behav Pediatr (2015)

Genitourinary health in a population-based cohort of males with Duchenne and Becker muscular dystrophies

per Zhu, Yong, Romitti, Paul A., Conway, Kristin M. Caspers, Kim, Sunkyung, Zhang, Ying, Yang, Michele, Mathews, Katherine D.
Publicat a Muscle Nerve (2015)

Illness-associated muscle weakness in dystroglycanopathies

per Carlson, Courtney R., McGaughey, Steven D., Eskuri, Jamie M., Stephan, Carrie M., Zimmerman, M. Bridget, Mathews, Katherine D.
Publicat a Neurology (2017)

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

per Tereshchenko, Alexander, van der Plas, Ellen, Mathews, Katherine D., Epping, Eric, Conrad, Amy L., Langbehn, Douglas R., Nopoulos, Peg
Publicat a J Huntingtons Dis (2020)

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

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

Childhood activity on progression in limb girdle muscular dystrophy 2I

per Brun, Brianna N, Mockler, Shelley RH, Laubscher, Katie M, Stephan, Carrie M, Collison, Julia A, Zimmerman, M. Bridget, Mathews, Katherine D
Publicat a J Child Neurol (2016)

Urologic and gastrointestinal symptoms in the dystroglycanopathies

per Crockett, Cameron D., Bertrand, Laura A., Cooper, Christopher S., Rahhal, Riad M., Liu, Ke, Zimmerman, M. Bridget, Moore, Steven A., Mathews, Katherine D.
Publicat a Neurology (2015)

Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up

per Gedlinske, Amber M., Stephan, Carrie M., Mockler, Shelley R.H., Laubscher, Katie M., Laubenthal, Karla S., Crockett, Cameron D., Zimmerman, M. Bridget, Mathews, Katherine D.
Publicat a Neurology (2020)

Uniparental disomy unveils a novel recessive mutation in POMT2

per Brun, Brianna N, Willer, Tobias, Darbro, Benjamin W, Gonorazky, Hernan D, Naumenko, Sergey, Dowling, James J, Campbell, Kevin P, Moore, Steven A, Mathews, Katherine D
Publicat a Neuromuscul Disord (2018)

Exercise-Induced Left Ventricular Systolic Dysfunction in Women Heterozygous for Dystrophinopathy

per Weiss, Robert M., Kerber, Richard E., Jones, Jane K., Stephan, Carrie M., Trout, Christina J., Lindower, Paul D., Staffey, Kimberly S., Campbell, Kevin P., Mathews, Katherine D.
Publicat 2010

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Case Definition in Surveillance for Childhood-Onset Duchenne/Becker Muscular Dystrophy

per Mathews, Katherine D., Cunniff, Chris, Kantamneni, Jiji R., Ciafaloni, Emma, Miller, Timothy, Matthews, Dennis, Cwik, Valerie, Druschel, Charlotte, Miller, Lisa, Meaney, F. John, Sladky, John, Romitti, Paul A.
Publicat 2010