Research Topics
Species | Kathryn SwobodaSummaryAffiliation: University of Utah Country: USA Publications
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Publications
Perspectives on clinical trials in spinal muscular atrophyKathryn J Swoboda
Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
J Child Neurol 22:957-66. 2007..Following is an overview of the challenges and opportunities, current and future therapeutic strategies, and progress to date in clinical trials in spinal muscular atrophy...- Diagnosis and treatment of neurotransmitter-related disordersKathryn J Swoboda
University of Utah School of Medicine, Primary Children s Medical Center, Division of Pediatric Neurology, 100 North Medical Drive, Suite 2700, Salt Lake City, UT 84113, USA
Neurol Clin 20:1143-61, viii. 2002..This article summarizes current knowledge regarding the clinical manifestations, diagnosis, and treatment of these important disorders... - Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomesKathryn J Swoboda
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Ann Neurol 54:S49-55. 2003..Much further work remains to identify and refine the best treatment options for patients with L-amino acid decarboxylase deficiency... - Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutationKathryn J Swoboda
Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Ann Neurol 55:884-7. 2004..Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the ATP1A2 locus could not be excluded failed to identify additional mutations... - Natural history of denervation in SMA: relation to age, SMN2 copy number, and functionKathryn J Swoboda
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA
Ann Neurol 57:704-12. 2005..These data highlight the potential value of such measures in increasing our understanding of pathophysiological factors involved in denervation in SMA... - Counting motor units in chronic motor neuropathiesMark B Bromberg
Department of Neurology, University of Utah, Salt Lake City, UT 84132, USA
Exp Neurol 184:S53-7. 2003..The pattern of proximal motor unit loss differed between CMT1A and 2, suggesting differences in underlying axonal pathology... - Compound muscle action potential and motor function in children with spinal muscular atrophyAga Lewelt
Division of Physical Medicine and Rehabilitation, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
Muscle Nerve 42:703-8. 2010..CMAP correlates well with motor function and has potential value as a relevant surrogate for disease status... - Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndromeMatthew T Sweney
University of Utah School of Medicine, 30 N 1900 East, SOM Room 3R413, Salt Lake City, UT 84132, USA
Pediatrics 123:e534-41. 2009..In 1998, in collaboration with the Alternating Hemiplegia of Childhood Foundation, an international registry was established to help document clinical outcomes and promote research efforts... - SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophyKathryn J Swoboda
Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
PLoS ONE 5:e12140. 2010..Valproic acid (VPA) has demonstrated potential as a therapeutic candidate for spinal muscular atrophy (SMA) in vitro and in vivo... - An unusual pathologic feature associated with dermatomyositisJacinda B Sampson
Department of Neurology, University of Utah, Salt Lake City, UT, USA
Neuromuscul Disord 16:391-3. 2006.... - Motor unit number estimation in infants and children with spinal muscular atrophyMark B Bromberg
Department of Neurology, 50 North Medical Drive, Salt Lake City, Utah 84132, USA
Muscle Nerve 25:445-7. 2002..Preliminary data support the value of MUNE to help understand the time course of motor neuron loss in SMA... - Phase II open label study of valproic acid in spinal muscular atrophyKathryn J Swoboda
Departments of Neurology, Pediatrics, Neonatology and General Clinical Research Center, University of Utah School of Medicine, Salt Lake City, Utah, United States of America
PLoS ONE 4:e5268. 2009..TRIAL REGISTRATION: ClinicalTrials.gov... - A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22Russell J Butterfield
Department of Neurology, University of Utah, Salt Lake City, UT 84112, USA
Neuromuscul Disord 19:279-87. 2009..Identification of additional families will help to distinguish between which of the two autosomal loci contains the disease-causing gene, or whether this is a digenic trait... - Clinical and genetic characterization of manifesting carriers of DMD mutationsPayam Soltanzadeh
Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Neuromuscul Disord 20:499-504. 2010..Our results demonstrate that improved molecular diagnostic methods facilitate the identification of DMD mutations in manifesting carriers, and confirm the heterogeneity of mutational mechanisms as well as the wide spectrum of phenotypes... - Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectivesCandice Meldrum
University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
J Child Neurol 22:1019-26. 2007..These data suggest that a consistent approach for facilitating how and when genetic counseling is received is greatly needed... - Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2Thomas W Prior
Department of Pathology, Ohio State University, Columbus, Ohio 43210, USA
Am J Med Genet A 130:307-10. 2004..Lastly, in cases similar to the ones described, the measurement of the SMN2 gene copy number may provide valuable prognostic information... - Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodelingSrinivasan Shanmugarajan
Charles P Darby Children s Research Institute, Medical University of South Carolina, Charleston, South Carolina 29425, USA
J Child Neurol 22:967-73. 2007..This article reviews the skeletal complications associated with spinal muscular atrophy and describes a functional role for SMN protein in osteoclast development and bone resorption activity... - RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati
Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
Clin Genet 74:164-70. 2008..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)... - A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophyKristin J Krosschell
Department of Physical Therapy and Human Movement Sciences, Feinberg School of Medicine, Northwestern University, Suite 1100, 645 North Michigan Avenue, Chicago, IL 60611, USA
Neuromuscul Disord 16:417-26. 2006..Our data provides additional support for the use of original scale items in terms of ease of administration, usefulness and reliability, while incorporating modifications to optimize its use in a multi-center clinical research setting... - Mitochondrial DNA depletion syndrome due to mutations in the RRM2B geneBelen Bornstein
Departamento de Bioquimica, Hospital Universitario Puerta de Hierro, Instituto de Investigaciones Biomedicas, CSIC UAM, CIBERER, ISCIII, Madrid, Spain
Neuromuscul Disord 18:453-9. 2008.... - Subacute combined degeneration of the spinal cord in cblC disorder despite treatment with B12Sharon E Smith
Division of Genetics, Children's Hospital Boston, MA 02115, USA
Mol Genet Metab 88:138-45. 2006..This is especially important now that the presymptomatic detection of cblC disorder is possible through the expansion of newborn screening... - V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzymeSteven Pind
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba R3E 0W3, Canada
J Biol Chem 277:7136-43. 2002....
Research Grants
- Therapeutic Opportunities in Spinal Muscular AtrophyKathryn Swoboda; Fiscal Year: 2007....
- Therapeutic Opportunities in Spinal Muscular AtrophyKathryn Swoboda; Fiscal Year: 2009....
- Therapeutic Opportunities in Spinal Muscular AtrophyKathryn J Swoboda; Fiscal Year: 2010....
- Therapeutic Opportunities in Spinal Muscular AtrophyKathryn J Swoboda; Fiscal Year: 2010..abstract_text> ..