Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

por Johannsen, Jessika, Weiss, Deike, Daubmann, Anne, Schmitz, Leonie, Denecke, Jonas
Publicado 2021

Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

por Zang, Jana, Johannsen, Jessika, Denecke, Jonas, Weiss, Deike, Koseki, Jana-Christiane, Nießen, Almut, Müller, Frank, Nienstedt, Julie Cläre, Flügel, Till, Pflug, Christina
Publicado 2022

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

por Johannsen, Jessika, Weiss, Deike, Driemeyer, Joenna, Olfe, Jakob, Stute, Fridrike, Müller, Ferdinand, Schütt, Marion, Trollmann, Regina, Kölbel, Heike, Schara-Schmidt, Ulrike, Kirschner, Janbernd, Pechmann, Astrid, Blaschek, Astrid, Horber, Veronka, Denecke, Jonas
Publicado 2023

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

por Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Publicado 2021