Authors: Sczakiel, Henrike L.Aff1, Aff2, Aff3, Zhao, MaxAff1, Aff2, Aff4, Wollert-Wulf, BrigitteAff5, Aff6, Aff7, Danyel, MagdalenaAff1, Aff8, Ehmke, NadjaAff1, Aff4, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B., Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G.Aff22, Aff23, Aff24, Lupski, James R.Aff23, Aff24, Aff25, Aff26, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed AhmadAff29, Aff30, Anwaar, Najwa, Rahman, Fatima, Seelow, DominikAff1, Aff32, Janz, MartinAff5, Aff6, Aff7, Horn, Denise, Maroofian, Reza, Boschann, FelixAff1, Aff4, Aff8, IDs41431023013820_cor33
Superior Title: European Journal of Human Genetics. 31(8):905-917
Authors: Steffens, Paula, Weiss, Deike, Perez, Anna, Appel, Manuel, Weber, Philipp, Weiss, Claudia, Stoltenburg, Corinna, Ehinger, Ute, von der Hagen, Maja, Schallner, Jens, Claussen, Birte, Lode, Ilka, Hahn, Andreas, Schuler, Rahel, Ruß, Lena, Ziegler, Andreas, Denecke, Jonas, Johannsen, Jessika
Superior Title: In European Journal of Paediatric Neurology July 2024 51:17-23
Authors: Sörmann, JaninaAff1, Aff2, Schewe, Marcus, Proks, PeterAff1, Aff2, Jouen-Tachoire, ThibaultAff1, Aff2, Aff4, Aff5, Rao, Shanlin, Riel, Elena B., Agre, Katherine E., Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R., Muppidi, Srikanth, Pichurin, Pavel N., Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P.Aff5, Aff18, Rödström, Karin E. J., Hahn, Michael G., Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E., Wright, Caroline F.Aff21, IDs4158802201185x_cor29, Tucker, Stephen J.Aff1, Aff2, Aff5, IDs4158802201185x_cor30
Superior Title: Nature Genetics. 54(10):1534-1543
Authors: Hasani, Elida, Schallner, Jens, von der Hagen, Maja, Falkenburger, Bjoern, Sobottka, Stephan B., Eyüpoglu, Ilker, Schackert, Gabriele, Polanski, Witold H.
Superior Title: Movement Disorders ; volume 38, issue 11, page 2139-2140 ; ISSN 0885-3185 1531-8257
Subject Terms: Neurology (clinical), Neurology
Availability: https://doi.org/10.1002/mds.29618
Authors: Kleefeld, Felix, Hentschel, Andreas, von Moers, Arpad, Hahn, Katrin, Horvath, Rita, Goebel, Hans‐Hilmar, Preusse, Corinna, Schallner, Jens, Schuelke, Markus, Roos, Andreas, Stenzel, Werner
Contributors: Deutsche Forschungsgemeinschaft, Ministerium für Kultur und Wissenschaft des Landes Nordrhein-Westfalen, French Muscular Dystrophy Association, European Regional Development Fund
Superior Title: Neuropathology and Applied Neurobiology ; volume 49, issue 4 ; ISSN 0305-1846 1365-2990
Availability: https://doi.org/10.1111/nan.12920
Authors: Becker, Lena-Luise, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, DaliaAff4, Aff5, Seifert, Michael, Petit, FlorenceAff7, Aff8, Smol, ThomasAff7, Aff9, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya, von der Hagen, MajaAff3, Cirak, SebahattinAff16
Superior Title: Journal of Human Genetics. 65(11):1003-1017
Authors: Nitz, Elisa, Smitka, Martin, Schallner, Jens, Akgün, Katja, Ziemssen, Tjalf, von der Hagen, Maja, Tüngler, Victoria
Superior Title: Ann Clin Transl Neurol
Subject Terms: Research Articles
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528467/; http://www.ncbi.nlm.nih.gov/pubmed/34482646; http://dx.doi.org/10.1002/acn3.51449
Authors: Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas
Superior Title: PLoS One
Subject Terms: Correction
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7514079/; http://www.ncbi.nlm.nih.gov/pubmed/32970766; http://dx.doi.org/10.1371/journal.pone.0239959
Authors: Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, Rump, Andreas
Contributors: Kaya, Namik
Superior Title: PLOS ONE ; volume 13, issue 8, page e0201041 ; ISSN 1932-6203
Subject Terms: Multidisciplinary
Availability: https://doi.org/10.1371/journal.pone.0201041
Authors: Joss, Shelagh, Metcalfe, Kay A., Somarathi, Suresh, Cruden, Jamie, Devlin, Anita M., Donaldson, Alan, DiDonato, Nataliya, Fitzpatrick, David, Kaiser, Frank J., Lampe, Anne K., Lees, Melissa M., McLellan, Ailsa, Montgomery, Tara, Mundada, Vivek, Nairn, Lesley, Sarkar, Ajoy, Schallner, Jens, Pozojevic, J.elena, Parenti, Ilaria, Tan, Jeen, Turnpenny, Peter, Whitehouse, William P., Zuberi, Sameer M., Symonds, Joseph D.
Relation: https://nottingham-repository.worktribe.com/output/855236; Epilepsia; Volume 58; Issue 4; Pagination 565-575; https://nottingham-repository.worktribe.com/file/855236/1/symonds%20SMC1A%20Epilepsia%202017.mht
Authors: Pinggera, Alexandra, Mackenroth, Luisa, Rump, Andreas, Schallner, Jens, Beleggia, Filippo, Wollnik, Bernd, Striessnig, Jörg
Subject Terms: Articles
Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886262/; http://www.ncbi.nlm.nih.gov/pubmed/28472301; http://dx.doi.org/10.1093/hmg/ddx175
Authors: Victor, Ronald G, Sweeney, H Lee, Finkel, Richard, McDonald, Craig M, Byrne, Barry, Eagle, Michelle, Goemans, Nathalie, Vandenborne, Krista, Dubrovsky, Alberto L, Topaloglu, Haluk, Miceli, M Carrie, Furlong, Pat, Landry, John, Elashoff, Robert, Cox, David, Abdel-Hamid, Hoda, Apkon, Susan, Barohn, Richard, Belousova, Elena, Bertini, Enrico, Brandsema, John, Bruno, Claudio, Burnette, William, Butterfield, Russell, Campbell, Craig, Carlo, Jose, Chae, Jong-Hee, Chandratre, Saleel, Comi, Giacomo, Connolly, Anne, De Groot, Imelda, Deconinck, Nicolas, Dooley, Joseph, Dubrovsky, Alberto, Durigneux, Julien, Finanger, Erika, Frank, L Matthew, Harper, Amy, Hattori, Ayako, Herguner, Ozlem, Iannaccone, Susan, Janas, Joanne, Jong, Yuh-Jyh, Kirschner, JanBerd, Komaki, Hirofumi, Kuntz, Nancy, Lee, Wang-Tso, Leung, Edward, Mah, Jean, Mathews, Katherine, McDonald, Craig, Mercuri, Eugenio, McMillan, Hugh, Mueller-Felber, Wolfgang, de Munain, Adolfo Lopez, Nakamura, Akinori, Niks, Erik, Ogata, Katsuhisa, Pascual, Samuel, Pegoraro, Elena, Pereon, Yann, Renfroe, Ben, Sanka, Ratna Bhavaraju, Schallner, Jens, Schara, Ulrike, Selby, Kathryn, Sendra, Isabel Illa, Servais, Laurent, Smith, Edward, Sparks, Susan, Victor, Ron, Vilchez, Juan Jose, Wicklund, Matthew, Wilichoswki, Ekkehard, Wong, Brenda
Superior Title: Neurology, vol 89, iss 17
Subject Terms: Pediatric, Clinical Research, Duchenne/ Becker Muscular Dystrophy, Clinical Trials and Supportive Activities, Muscular Dystrophy, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Rare Diseases, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Musculoskeletal, Adolescent, Area Under Curve, Child, Dose-Response Relationship, Drug, Double-Blind Method, Follow-Up Studies, Glucocorticoids, Heart Rate, Humans, International Cooperation, Male, Duchenne, Quality of Life, Respiratory Function Tests, Tadalafil, Treatment Outcome, Vasodilator Agents, Ventricular Function
Time: 1811 - 1820
File Description: application/pdf
Relation: qt4kh2367q; https://escholarship.org/uc/item/4kh2367q
Availability: https://escholarship.org/uc/item/4kh2367q
Authors: Stamberger, Hannah, Nikanorova, Marina, Willemsen, Marjolein H, Accorsi, Patrizia, Angriman, Marco, Baier, Hartmut, Benkel-Herrenbrueck, Ira, Benoit, Valérie, Budetta, Mauro, Caliebe, Almuth, Cantalupo, Gaetano, Capovilla, Giuseppe, Casara, Gianluca, Courage, Carolina, Deprez, Marie, Destrée, Anne, Dilena, Robertino, Erasmus, Corrie E, Fannemel, Madeleine, Fjær, Roar, Giordano, Lucio, Helbig, Katherine L, Heyne, Henrike O, Klepper, Joerg, Kluger, Gerhard J, Lederer, Damien, Lodi, Monica, Maier, Oliver, Merkenschlager, Andreas, Michelberger, Nina, Minetti, Carlo, Muhle, Hiltrud, Phalin, Judith, Ramsey, Keri, Romeo, Antonino, Schallner, Jens, Schanze, Ina, Shinawi, Marwan, Sleegers, Kristel, Sterbova, Katalin, Syrbe, Steffen, Traverso, Monica, Tzschach, Andreas, Uldall, Peter, Van Coster, Rudy, Verhelst, Helene, Viri, Maurizio, Winter, Susan, Wolff, Markus, Zenker, Martin, Zoccante, Leonardo, De Jonghe, Peter, Helbig, Ingo, Striano, Pasquale, Lemke, Johannes, Møller, Rikke S, Weckhuysen, Sarah
Superior Title: Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; . (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457
Subject Terms: 610 Medicine & health
File Description: application/pdf
Relation: https://boris.unibe.ch/79345/
Availability:
https://doi.org/10.1212/WNL.0000000000002457
https://boris.unibe.ch/79345/1/954.full.pdf
https://boris.unibe.ch/79345/
Authors: Bednarz, Marcin, Da, Yuwei, Lehmann-Horn, Frank, Fan, Chunxiang, Schallner, Jens, Jurkat-Rott, Karin
Contributors: Jiang, Zheng
Superior Title: Journal of Neurological Research And Therapy ; volume 1, issue 3, page 20-30 ; ISSN 2470-5020
Authors: Sczakiel, Henrike L., Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B., Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G., Lupski, James R., Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix
Superior Title: European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-13, 13p
Authors: Becker, Lena-Luise, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas, Bok, Levinus A., Rodan, Lance H., Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya, Von Der Hagen, Maja, Cirak, Sebahattin
Contributors: Université de Lille, Charité - UniversitätsMedizin = Charité - University Hospital Berlin, University Hospital of Cologne Cologne, Technische Universität Dresden = Dresden University of Technology TU Dresden, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, ASML VELDHOVEN ASML, Department of Neurology, Children's Hospital Boston, Maastricht University Maastricht, University of Bremen, Newcastle University Newcastle, Center for Molecular Medicine Cologne CMMC
File Description: application/octet-stream
Relation: Journal of human genetics; J. Hum. Genet.; http://hdl.handle.net/20.500.12210/55385
Authors: Pirozzi, Filomena, Lee, Benson, Horsley, Nicole, Burkardt, Deepika D., Dobyns, William B., Graham, John M., Dentici, Maria L., Cesario, Claudia, Schallner, Jens, Porrmann, Joseph, Di Donato, Nataliya, Sanchez‐Lara, Pedro A., Mirzaa, Ghayda M.
Contributors: Deutsche Forschungsgemeinschaft
Superior Title: American Journal of Medical Genetics Part A ; volume 185, issue 9, page 2719-2738 ; ISSN 1552-4825 1552-4833
Subject Terms: Genetics (clinical), Genetics
Availability: https://doi.org/10.1002/ajmg.a.62362
Authors: Tan, Natalie B, Pagnamenta, Alistair T, Ferla, Matteo P, Gadian, Jonathan, Chung, Brian HY, Chan, Marcus CY, Fung, Jasmine LF, Cook, Edwin, Guter, Stephen, Boschann, Felix, Heinen, Andre, Schallner, Jens, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Sarret, Catherine, Mittag, Dana, Demmer, Laurie, Stapleton, Rachel, Saida, Ken, Matsumoto, Naomichi, Miyake, Noriko, Sheffer, Ruth, Mor-Shaked, Hagar, Barnett, Christopher P, Byrne, Alicia B, Scott, Hamish S, Kraus, Alison, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Iorio, Raffaele, Di Dato, Fabiola, Pais, Lynn S, Yeung, Alison, Tan, Tiong Y, Taylor, Jenny C, Christodoulou, John, White, Susan M
Contributors: Autism Speaks, Health Innovation Challenge Fund, Victorian Government's Operational Infrastructure Support Program, Duchess of Kent Children's Hospital, Autism Sequencing Consortium, Australian Genomics Health Alliance PhD Award, Telethon Undiagnosed Diseases Program, Wellcome Trust, Undiagnosed Diseases Program - Victoria, Murdoch Children's Research Institute, Japan Society for the Promotion of Science, National Human Genome Research Institute, Australian Government Research Training Program Scholarship, National Institutes of Health, National Health and Medical Research Council, Fondazione Telethon, Japan Agency for Medical Research and Development, NIHR Biomedical Research Centre Oxford, Australian Genomic Health Alliance NHMRC Targeted Call for Research into Preparing Australia for the Genomics Revolution in Healthcare, Australian NHMRC Centre for Research Excellence in Neurocognitive Disorders
Superior Title: Journal of Medical Genetics ; volume 59, issue 5, page 511-516 ; ISSN 0022-2593 1468-6244
Subject Terms: Genetics (clinical), Genetics
Availability: https://doi.org/10.1136/jmedgenet-2020-107462
Authors: Sörmann, Janina, Schewe, Marcus, Proks, Peter, Jouen-Tachoire, Thibault, Rao, Shanlin, Riel, Elena B., Agre, Katherine E., Begtrup, Amber, Dean, John, Descartes, Maria, Fischer, Jan, Gardham, Alice, Lahner, Carrie, Mark, Paul R., Muppidi, Srikanth, Pichurin, Pavel N., Porrmann, Joseph, Schallner, Jens, Smith, Kirstin, Straub, Volker, Vasudevan, Pradeep, Willaert, Rebecca, Carpenter, Elisabeth P., Rödström, Karin E. J., Hahn, Michael G., Müller, Thomas, Baukrowitz, Thomas, Hurles, Matthew E., Wright, Caroline F., Tucker, Stephen J.
Superior Title: Nature Genetics; October 2022, Vol. 54 Issue: 10 p1534-1543, 10p
Authors: Tan, Natalie B., Pagnamenta, Alistair T., Ferla, Matteo P., Gadian, Jonathan, Chung, Brian H. Y., Chan, Marcus C. Y., Fung, Jasmine L. F., Cook, Edwin, Guter, Stephen, Boschann, Felix, Heinen, Andre, Schallner, Jens, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Sarret, Catherine, Mittag, Dana, Demmer, Laurie, Stapleton, Rachel, Saida, Ken
Superior Title: Journal of Medical Genetics; May2022, Vol. 59 Issue 5, p511-516, 6p