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

por Sweadner, Kathleen J., Arystarkhova, Elena, Penniston, John T., Swoboda, Kathryn J., Brashear, Allison, Ozelius, Laurie J.
Publicado 2019

Intrathecal Injections in Children With Spinal Muscular Atrophy: Nusinersen Clinical Trial Experience

por Haché, Manon, Swoboda, Kathryn J., Sethna, Navil, Farrow-Gillespie, Alan, Khandji, Alexander, Xia, Shuting, Bishop, Kathie M.
Publicado 2016

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

por Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.
Publicado 2016

Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec

por Day, John W., Finkel, Richard S., Mercuri, Eugenio, Swoboda, Kathryn J., Menier, Melissa, van Olden, Rudolf, Tauscher-Wisniewski, Sitra, Mendell, Jerry R.
Publicado 2021

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

por Hunt, David, Leventer, Richard J, Simons, Cas, Taft, Ryan, Swoboda, Kathryn J, Gawne-Cain, Mary, Magee, Alex C, Turnpenny, Peter D, Baralle, Diana
Publicado 2014

Emerging therapies and challenges in spinal muscular atrophy

por Farrar, Michelle A., Park, Susanna B., Vucic, Steve, Carey, Kate A., Turner, Bradley J., Gillingwater, Thomas H., Swoboda, Kathryn J., Kiernan, Matthew C.
Publicado 2017

Increased systemic HSP70B levels in spinal muscular atrophy infants

por Eichelberger, Eric J., Alves, Christiano R. R., Zhang, Ren, Petrillo, Marco, Cullen, Patrick, Farwell, Wildon, Hurt, Jessica A., Staropoli, John F., Swoboda, Kathryn J.
Publicado 2021

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy

por Chiriboga, Claudia A., Swoboda, Kathryn J., Darras, Basil T., Iannaccone, Susan T., Montes, Jacqueline, De Vivo, Darryl C., Norris, Daniel A., Bennett, C. Frank, Bishop, Kathie M.
Publicado 2016

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

por Margraf, Rebecca L., Durtschi, Jacob, Krock, Bryan, Newcomb, Tara M., Bonkowsky, Joshua L., Voelkerding, Karl V., Bayrak-Toydemir, Pinar, Lutz, Richard E., Swoboda, Kathryn J.
Publicado 2018

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials

por Zaworski, Phillip, von Herrmann, Katharine M., Taylor, Shannon, Sunshine, Sara S., McCarthy, Kathleen, Risher, Nicole, Newcomb, Tara, Weetall, Marla, Prior, Thomas W., Swoboda, Kathryn J., Chen, Karen S., Paushkin, Sergey
Publicado 2016

Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients

por Magen, Iddo, Aharoni, Sharon, Yacovzada, Nancy Sarah, Tokatly Latzer, Itay, Alves, Christiano R. R., Sagi, Liora, Fattal‐Valevski, Aviva, Swoboda, Kathryn J., Katz, Jacob, Bruckheimer, Elchanan, Nevo, Yoram, Hornstein, Eran
Publicado 2022

Whole blood survival motor neuron protein levels correlate with severity of denervation in spinal muscular atrophy

por Alves, Christiano R. R., Zhang, Ren, Johnstone, Alec J., Garner, Reid, Eichelberger, Eric J., Lepez, Salomé Da Silva Duarte, Yi, Vivian, Stevens, Victoria, Poxson, Rebekah, Schwartz, Rachel, Zaworski, Phillip, Swoboda, Kathryn J.
Publicado 2020

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

por Finkel, Richard S., Crawford, Thomas O., Swoboda, Kathryn J., Kaufmann, Petra, Juhasz, Peter, Li, Xiaohong, Guo, Yu, Li, Rebecca H., Trachtenberg, Felicia, Forrest, Suzanne J., Kobayashi, Dione T., Chen, Karen S., Joyce, Cynthia L., Plasterer, Thomas
Publicado 2012

Whole‐blood dysregulation of actin‐cytoskeleton pathway in adult spinal muscular atrophy patients

por Siranosian, Jennifer J., Nery, Flavia C., Alves, Christiano R. R., Siranosian, Benjamin A., Lyons, Nicholas J., Eichelberger, Eric J., Garner, Reid, Da Silva Duarte Lepez, Salomé, Johnstone, Alec J., Subramanian, Aravind, Swoboda, Kathryn J.
Publicado 2020

Implications of circulating neurofilaments for spinal muscular atrophy treatment early in life: A case series

por Alves, Christiano R.R., Petrillo, Marco, Spellman, Rebecca, Garner, Reid, Zhang, Ren, Kiefer, Michael, Simeone, Sarah, Sohn, Jihee, Eichelberger, Eric J., Rodrigues, Emma, Arruda, Elizabeth A., Townsend, Elise L., Farwell, Wildon, Swoboda, Kathryn J.
Publicado 2021

An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy

por Kwon, Jennifer M., Arya, Kapil, Kuntz, Nancy, Phan, Han C., Sieburg, Cory, Swoboda, Kathryn J., Veerapandiyan, Aravindhan, Assman, Beverly, Bader‐Weder, Silvia, Dickendesher, Travis L., Hansen, Jennifer, Lin, Helen, Yan, Ying, Rao, Vamshi K.
Publicado 2022

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

por Crawford, Thomas O., Paushkin, Sergey V., Kobayashi, Dione T., Forrest, Suzanne J., Joyce, Cynthia L., Finkel, Richard S., Kaufmann, Petra, Swoboda, Kathryn J., Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H., Trachtenberg, Felicia L., Plasterer, Thomas, Chen, Karen S.
Publicado 2012

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

por Stabley, Deborah L, Harris, Ashlee W, Holbrook, Jennifer, Chubbs, Nicholas J, Lozo, Kevin W, Crawford, Thomas O, Swoboda, Kathryn J, Funanage, Vicky L, Wang, Wenlan, Mackenzie, William, Scavina, Mena, Sol-Church, Katia, Butchbach, Matthew E R
Publicado 2015

Impaired kidney structure and function in spinal muscular atrophy

por Nery, Flávia C., Siranosian, Jennifer J., Rosales, Ivy, Deguise, Marc-Olivier, Sharma, Amita, Muhtaseb, Abdurrahman W., Nwe, Pann, Johnstone, Alec J., Zhang, Ren, Fatouraei, Maryam, Huemer, Natassja, Alves, Christiano R.R., Kothary, Rashmi, Swoboda, Kathryn J.
Publicado 2019

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

por Hale, Jaime E., Darras, Basil T., Swoboda, Kathryn J., Estrella, Elicia, Chen, Jin Yun Helen, Abbott, Mary-Alice, Hay, Beverly N., Kumar, Binod, Counihan, Anne M., Gerstel-Thompson, Jacalyn, Sahai, Inderneel, Eaton, Roger B., Comeau, Anne Marie
Publicado 2021