Of SMN in mice and men: a therapeutic opportunity

ανά Swoboda, Kathryn J.
Έκδοση 2011

SMN-targeted therapeutics for spinal muscular atrophy: are we SMArt enough yet?

ανά Swoboda, Kathryn J.
Έκδοση 2014

Romancing the Spliceosome to Fight Spinal Muscular Atrophy

ανά Swoboda, Kathryn J.
Τόπος έκδοσης N Engl J Med (2014)

Motor Unit Number Estimation in Infants and Children with Spinal Muscular Atrophy

ανά Bromberg, Mark B., Swoboda, Kathryn J.
Τόπος έκδοσης Muscle Nerve (2002)

Spinal Muscular Atrophy Genetic Counseling Access and Genetic Knowledge: Parents’ Perspectives

ανά Meldrum, Candice, Scott, Charles, Swoboda, Kathryn J.
Έκδοση 2007

New Therapeutic Approaches to Spinal Muscular Atrophy

ανά Lewelt, Aga, Newcomb, Tara M., Swoboda, Kathryn J.
Έκδοση 2012

The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

ανά Sweney, Matthew T., Newcomb, Tara M., Swoboda, Kathryn J.
Τόπος έκδοσης Pediatr Neurol (2014)

Population Pharmacokinetics of Valproic Acid in Pediatric Patients With Epilepsy: Considerations for Dosing Spinal Muscular Atrophy Patients

ανά Williams, Jason H., Jayaraman, Bhuvaneswari, Swoboda, Kathryn J., Barrett, Jeffrey S.
Έκδοση 2011

Perceptions of Equine Assisted Activities and Therapies by Parents and Children with Spinal Muscular Atrophy

ανά Lemke, Danielle, Rothwell, Erin, Newcomb, Tara M., Swoboda, Kathryn J.
Έκδοση 2014

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

ανά Araujo, Alexandra prufer de Queiroz Campos, Araujo, Mario, Swoboda, Kathryn J.
Έκδοση 2009

Homozygous SMN1 Deletions in Unaffected Family Members and Modification of the Phenotype by SMN2

ανά Prior, Thomas W., Swoboda, Kathryn J., Scott, H. Denman, Hejmanowski, Ashley Q.
Τόπος έκδοσης Am J Med Genet A (2004)

RESPONSES TO FASTING AND GLUCOSE LOADING IN A COHORT OF WELL CHILDREN WITH SPINAL MUSCULAR ATROPHY TYPE II

ανά Davis, Rebecca Hurst, Miller, Elizabeth A., Zhang, Ren Zhe, Swoboda, Kathryn J.
Τόπος έκδοσης J Pediatr (2015)

Public Attitudes Regarding a Pilot Study of Newborn Screening for Spinal Muscular Atrophy

ανά Rothwell, Erin, Anderson, Rebecca A., Swoboda, Kathryn J., Stark, Louisa, Botkin, Jeffrey R.
Έκδοση 2013

Alpha-Synuclein Loss in Spinal Muscular Atrophy

ανά Acsadi, Gyula, Li, Xingli, Murphy, Kelley J., Swoboda, Kathryn J., Parker, Graham C.
Έκδοση 2010

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

ανά Krosschell, Kristin J., Maczulski, Jo Anne, Crawford, Thomas O., Scott, Charles, Swoboda, Kathryn J.
Έκδοση 2006

Vitamin D Intake Is Inadequate in Spinal Muscular Atrophy Type I Cohort: Correlations With Bone Health

ανά Aton, Jennifer, Hurst Davis, Rebecca, Jordan, Kristine C., Scott, Charles B., Swoboda, Kathryn J.
Τόπος έκδοσης J Child Neurol (2013)

Spinal muscular atrophy type 1: Are proactive respiratory interventions associated with longer survival?

ανά Lemoine, Tara J., Swoboda, Kathryn J., Bratton, Susan L., Holubkov, Richard, Mundorff, Michael, Srivastava, Rajendu
Τόπος έκδοσης Pediatr Crit Care Med (2012)

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3

ανά Sweadner, Kathleen J., Arystarkhova, Elena, Penniston, John T., Swoboda, Kathryn J., Brashear, Allison, Ozelius, Laurie J.
Τόπος έκδοσης Neurol Genet (2019)

Congenital Bone Fractures in Spinal Muscular Atrophy: Functional Role for SMN Protein in Bone Remodeling

ανά Shanmugarajan, Srinivasan, Swoboda, Kathryn J., Iannaccone, Susan T., Ries, William L., Maria, Bernard L., Reddy, Sakamuri V.
Έκδοση 2007

Bone loss in survival motor neuron (Smn(−/−)SMN2) genetic mouse model of spinal muscular atrophy

ανά Shanmugarajan, Srinivasan, Tsuruga, Eichi, Swoboda, Kathryn J, Maria, Bernard L, Ries, William L, Reddy, Sakamuri V
Έκδοση 2009