Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Kimberly Schadt"'
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
Externí odkaz:
https://doaj.org/article/ef1ee8f10d6b478780ae0ada228d1a7a
Autor:
Megan M. Shen, Layne N. Rodden, Kellie McIntyre, Adriana Arias, Victoria Profeta, Kimberly Schadt, David R. Lynch
Publikováno v:
Journal of neurology.
Publikováno v:
Muscle & Nerve. 60:571-575
INTRODUCTION In this study we assessed the effect of methylprednisolone on safety, tolerability, and ability in Friedreich ataxia (FRDA). METHODS The study was an open-label trial of pulse methylprednisolone on 11 participants with FRDA. All particip
Publikováno v:
Annals of Clinical and Translational Neurology. 6:812-816
Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation. In this work, w
Publikováno v:
Seminars in Pediatric Neurology. 25:54-64
Evaluation of a pediatric patient presenting with ataxia can be expensive and time consuming. Acute causes tend to have a clear developmental paradigm, but chronic presentations are more likely to be secondary to a genetic disorder, either one that p
Autor:
Jane Larkindale, Hong Lin, Kimberly Schadt, David A. Lynch, Ashley McCormick, Cassandra J Strawser, Lauren A. Hauser, McKenzie Wells
Publikováno v:
Expert Review of Neurotherapeutics. 17:895-907
Friedreich ataxia (FRDA) is a progressive, inherited, neurodegenerative disease for which there is currently no cure or approved treatment. FRDA is caused by deficits in the production and expression of frataxin, a protein found in the mitochondria t
Publikováno v:
Annals of Clinical and Translational Neurology
Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation. In this work, w
Autor:
Jennifer Farmer, Cassandra J Strawser, Katherine D. Mathews, Martin B. Delatycki, Charles J. Isaacs, Sarah Gelbard, Julianna E. Shinnick, Christopher M. Gomez, Eppie M. Yiu, Kimberly Schadt, Susan Perlman, S. H. Subramony, Maya Patel, Theresa A. Zesiewicz, David A. Lynch, Debbie L. Foerster, Grace Yoon, George Wilmot, Lauren Seyer, Karlla W. Brigatti, Alicia Brocht
Publikováno v:
Annals of Clinical and Translational Neurology
Objective Friedreich ataxia (FRDA) is a progressive neurodegenerative disorder of adults and children. This study analyzed neurological outcomes and changes to identify predictors of progression and generate power calculations for clinical trials. Me
Autor:
Christopher M. Gomez, David A. Lynch, Jennifer Farmer, Grace Yoon, Martin B. Delatycki, Cassandra J Strawser, Chad Hoyle, Alicia Brocht, S. H. Subramony, Theresa A. Zesiewicz, Julianna E. Shinnick, Susan Perlman, Katherine D. Mathews, Kimberly Schadt, George Wilmot, Nicholas S. Wilcox, Eppie M. Yiu
Publikováno v:
Journal of Child Neurology. 31:1161-1165
Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large na
Publikováno v:
Neurodegenerative Disease Management. 5:497-504
IFN-γ-1b is currently US FDA approved as an orphan drug for the treatment of chronic granulomatous disease and severe malignant osteopetrosis. It is administered via subcutaneous injection and is a potential therapy for Friedreich ataxia (FRDA), a r