Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study

Authors: Crawford, Thomas O., Swoboda, Kathryn J., De Vivo, Darryl C., Bertini, Enrico, Hwu, Wuh‐Liang, Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Nazario, Aledie Navas, Parsons, Julie A., Pechmann, Astrid, Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben‐Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh‐Jyh, Shu, Francy, Zhu, Cong, Raynaud, Stephanie, Lago, Tiffany R., Paradis, Angela D., Foster, Richard, Chin, Russell, Berger, Zdenek

Source: Muscle & nerve. 68(2):157-170

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187527103.0x000001&indx=1&recIds=ETOCvdc_100187527103.0x000001

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

Authors: 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.

Source: Annals of clinical and translational neurology. 9(6):810-818

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153523826.0x000001&indx=1&recIds=ETOCvdc_100153523826.0x000001

Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis

Authors: Krosschell, Kristin J., Townsend, Elise L., Kiefer, Michael, Simeone, Sarah D., Zumpf, Katelyn, Welty, Leah, Swoboda, Kathryn J.

Source: NEUROMUSCULAR DISORDERS. 32(2):125-134

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

Authors: 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

Source: European journal of neurology. 29(8):2420-2430

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100156044170.0x000001&indx=1&recIds=ETOCvdc_100156044170.0x000001

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

Authors: 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.

Source: In Molecular Therapy - Methods & Clinical Development 10 December 2021 23:524-538

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

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

Source: In Molecular Therapy - Methods & Clinical Development 11 June 2021 21:76-82

Increased systemic HSP70B levels in spinal muscular atrophy infants

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

Source: Annals of clinical and translational neurology. 8(7):1495-1501

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123592780.0x000001&indx=1&recIds=ETOCvdc_100123592780.0x000001

Physical performance and plasma metabolic profile as potential prognostic factors in metastatic lung cancer patients.

Authors: das Neves, Willian, Alves, Christiano R. R., dos Santos, Gabriela, Alves, Maria‐Janieire N. N., Deik, Amy, Pierce, Kerry, Dennis, Courtney, Buckley, Lily, Clish, Clary B., Swoboda, Kathryn J., Brum, Patricia C., de Castro Junior, Gilberto

Source: European Journal of Clinical Investigation; Nov2024, Vol. 54 Issue 11, p1-13, 13p

Subject Terms: PHYSICAL mobility, BODY composition, OVERALL survival, MUSCLE metabolism, LUNG cancer

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies

Authors: Viollet, Louis M., Swoboda, Kathryn J., Mao, Rong, Best, Hunter, Ha, Youna, Toutain, Annick, Guyant-Marechal, Lucie, Laroche-Raynaud, Cecile, Ghorab, Karima, Barthez, Marie Anne, Pedespan, Jean Michel, Hernandorena, Xavier, Lia, Anne-Sophie, Deleuze, Jean-Francois, Masson, Cecile, Nelson, Isabelle, Nectoux, Juliette, Si, Yue

Source: In European Journal of Medical Genetics December 2020 63(12)

Exercise training reverses cancer-induced oxidative stress and decrease in muscle COPS2/TRIP15/ALIEN

Authors: Alves, Christiano R.R., Neves, Willian das, de Almeida, Ney R., Eichelberger, Eric J., Jannig, Paulo R., Voltarelli, Vanessa A., Tobias, Gabriel C., Bechara, Luiz R.G., de Paula Faria, Daniele, Alves, Maria J.N., Hagen, Lars, Sharma, Animesh, Slupphaug, Geir, Moreira, José B.N., Wisloff, Ulrik, Hirshman, Michael F., Negrão, Carlos E., de Castro Jr, Gilberto, Chammas, Roger, Swoboda, Kathryn J., Ruas, Jorge L., Goodyear, Laurie J., Brum, Patricia C.

Source: In Molecular Metabolism September 2020 39

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

Authors: Snow, John P., Westlake, Grant, Klofas, Lindsay K., Jeon, Soyoun, Armstrong, Laura C., Swoboda, Kathryn J., George, Alfred L., Jr, Ess, Kevin C.

Source: In Neurobiology of Disease July 2020 141

Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development

Authors: Vallabh, Sonia M., Nobuhara, Chloe K., Llorens, Franc, Zerr, Inga, Parchi, Piero, Capellari, Sabina, Kuhn, Eric, Klickstein, Jacob, Safar, Jiri G., Nery, Flavia C., Swoboda, Kathryn J., Geschwind, Michael D., Zetterberg, Henrik, Arnold, Steven E., Minikel, Eric Vallabh, Schreiber, Stuart L.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2019 Apr . 116(16), 7793-7798.

Access URL: https://www.jstor.org/stable/26703340

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Authors: De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

Source: In Neuromuscular Disorders November 2019 29(11):842-856

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

Authors: 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.

Source: Annals of clinical and translational neurology. 7(7):1158-1165

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100110140519.0x000001&indx=1&recIds=ETOCvdc_100110140519.0x000001

Stander Use in Spinal Muscular Atrophy: Results From a Large Natural History Database

Authors: Townsend, Elise L., Simeone, Sarah D., Krosschell, Kristin J., Zhang, Ren Zhe, Swoboda, Kathryn J.

Source: Pediatric physical therapy. 32(3):235-241

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100176370614.0x000001&indx=1&recIds=ETOCvdc_100176370614.0x000001

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

Authors: 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.

Source: Muscle & nerve. 62(3):351-357

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108116504.0x000001&indx=1&recIds=ETOCvdc_100108116504.0x000001

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Authors: Bartlett, Amy, Kolb, Stephen J., Kingsley, Allison, Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Coffey, Christopher S., Yankey, Jon W., Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Arnold, W. David, Kissel, John T.

Source: In Contemporary Clinical Trials Communications September 2018 11:113-119

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

Authors: Simmons, Christine Q., Thompson, Christopher H., Cawthon, Bryan E., Westlake, Grant, Swoboda, Kathryn J., Kiskinis, Evangelos, Ess, Kevin C., George, Alfred L., Jr

Source: In Neurobiology of Disease July 2018 115:29-38

Unusual inclusions in cerebrospinal fluid macrophages of spinal muscular atrophy patients treated with nusinersen

Authors: Machacek, Miranda E., Gogakos, Tasos, Fletcher, Madeline C., Lunderville, Kathryn A., Swoboda, Kathryn J., Sohani, Aliyah R.

Source: International journal of laboratory hematology. 43(3):e104-e106

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121111320.0x000001&indx=1&recIds=ETOCvdc_100121111320.0x000001

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

Authors: Ruhno, Corey, McGovern, Vicki L., Avenarius, Matthew R., Snyder, Pamela J., Prior, Thomas W., Nery, Flavia C., Muhtaseb, Abdurrahman, Roggenbuck, Jennifer S., Kissel, John T., Sansone, Valeria A., Siranosian, Jennifer J., Johnstone, Alec J., Nwe, Pann H., Zhang, Ren Z., Swoboda, Kathryn J., Burghes, Arthur H. M.

Source: Human genetics. 138(3):241-256

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125868373.0x000001&indx=1&recIds=ETOCvdc_100125868373.0x000001