Universität zu Köln

Journal Article

Brown, Peter, Tan, Aik-Choon, El-Esawi, Mohamed A., Liehr, Thomas ORCID: 0000-0003-1672-3054, Blanck, Oliver, Gladue, Douglas P., Almeida, Gabriel M. F., Cernava, Tomislav ORCID: 0000-0001-7772-4080, Sorzano, Carlos O., Yeung, Andy W. K., Engel, Michael S., Chandrasekaran, Arun Richard, Muth, Thilo, Staege, Martin S., Daulatabad, Swapna V., Widera, Darius, Zhang, Junpeng, Meule, Adrian ORCID: 0000-0002-6639-8977, Honjo, Ken, Pourret, Olivier ORCID: 0000-0001-6181-6079, Yin, Cong-Cong, Zhang, Zhongheng, Cascella, Marco, Flegel, Willy A., Goodyear, Carl S., van Raaij, Mark J., Bukowy-Bieryllo, Zuzanna, Campana, Luca G., Kurniawan, Nicholas A., Lalaouna, David ORCID: 0000-0002-0347-5816, Huttner, Felix J., Ammerman, Brooke A., Ehret, Felix, Cobine, Paul A., Tan, Ene-Choo, Han, Hyemin ORCID: 0000-0001-7181-2565, Xia, Wenfeng ORCID: 0000-0002-1147-6886, McCrum, Christopher ORCID: 0000-0002-4927-1114, Dings, Ruud P. M., Marinello, Francesco ORCID: 0000-0002-3283-5665, Nilsson, Henrik, Nixon, Brett, Voskarides, Konstantinos ORCID: 0000-0002-3705-3451, Yang, Long, Costa, Vincent D., Bengtsson-Palme, Johan, Bradshaw, William, Grimm, Dominik G., Kumar, Nitin, Martis, Elvis, Prieto, Daniel ORCID: 0000-0001-8356-1708, Sabnis, Sandeep C., Amer, Said E. D. R., Liew, Alan W. C., Perco, Paul, Rahimi, Farid ORCID: 0000-0002-0920-8188, Riva, Giuseppe, Zhang, Chongxing, Devkota, Hari P., Ogami, Koichi ORCID: 0000-0001-9380-9666, Basharat, Zarrin ORCID: 0000-0003-1785-3803, Fierz, Walter, Siebers, Robert, Tan, Kok-Hian, Boehme, Karen A., Brenneisen, Peter, Brown, James A. L., Dalrymple, Brian P., Harvey, David J., Ng, Grace, Werten, Sebastiaan ORCID: 0000-0003-2244-9688, Bleackley, Mark, Dai, Zhanwu ORCID: 0000-0002-7625-8337, Dhariwal, Raman, Gelfer, Yael, Hartmann, Marcus D., Miotla, Pawel, Tamaian, Radu ORCID: 0000-0001-6380-1460, Govender, Pragashnie, Gurney-Champion, Oliver J., Kauppila, Joonas H., Zhang, Xiaolei, Echeverria, Natalia, Subhash, Santhilal ORCID: 0000-0002-0077-4597, Sallmon, Hannes, Tofani, Marco, Bae, Taeok, Bosch, Oliver, Cuiv, Paraic O., Danchin, Antoine, Diouf, Barthelemy, Eerola, Tuomas, Evangelou, Evangelos, Filipp, Fabian V., Klump, Hannes, Kurgan, Lukasz ORCID: 0000-0002-7749-0314, Smith, Simon S., Terrier, Olivier ORCID: 0000-0001-9393-7684, Tuttle, Neil ORCID: 0000-0002-4924-5741, Ascher, David B., Janga, Sarath C., Schulte, Leon N., Becker, Daniel ORCID: 0000-0003-4315-8628, Browngardt, Christopher, Bush, Stephen J., Gaullier, Guillaume ORCID: 0000-0003-3405-6021, Ide, Kazuki, Meseko, Clement, Werner, Gijsbert D. A., Zaucha, Jan, Al-Farha, Abd A., Greenwald, Noah F., Popoola, Segun I. ORCID: 0000-0002-3941-5903, Rahman, Md Shaifur, Xu, Jialin, Yang, Sunny Y., Hiroi, Noboru, Alper, Ozgul M., Baker, Chris I., Bitzer, Michael, Chacko, George, Debrabant, Birgit, Dixon, Ray, Forano, Evelyne, Gilliham, Matthew, Kelly, Sarah, Klempnauer, Karl-Heinz, Lidbury, Brett A., Lin, Michael Z., Lynch, Iseult, Ma, Wujun, Maibach, Edward W., Mather, Diane E., Nandakumar, Kutty S., Ohgami, Robert S., Parchi, Piero ORCID: 0000-0002-9444-9524, Tressoldi, Patrizio, Xue, Yu, Armitage, Charles ORCID: 0000-0002-3859-5172, Barraud, Pierre ORCID: 0000-0003-4460-8360, Chatzitheochari, Stella, Coelho, Luis P., Diao, Jiajie ORCID: 0000-0003-4288-3203, Doxey, Andrew C., Gobet, Angelique, Hu, Pingzhao ORCID: 0000-0002-9546-2245, Kaiser, Stefan ORCID: 0000-0001-9862-2788, Mitchell, Kate M., Salama, Mohamed F., Shabalin, Ivan G., Song, Haijun, Stevanovic, Dejan ORCID: 0000-0001-8236-5246, Yadollahpour, Ali, Zeng, Erliang, Zinke, Katharina, Alimba, C. G., Beyene, Tariku J., Cao, Zehong ORCID: 0000-0003-3656-0328, Chan, Sherwin S., Gatchell, Michael ORCID: 0000-0003-1028-7976, Kleppe, Andreas ORCID: 0000-0002-8370-5289, Piotrowski, Marcin ORCID: 0000-0001-6106-7282, Torga, Gonzalo, Woldesemayat, Adugna A., Cosacak, Mehmet I., Haston, Scott, Ross, Stephanie A., Williams, Richard, Wong, Alvin, Abramowitz, Matthew K., Effiong, Andem, Lee, Senhong, Abid, Muhammad Bilal ORCID: 0000-0002-1128-0445, Agarabi, Cyrus, Alaux, Cedric ORCID: 0000-0002-3045-2599, Albrecht, Dirk R., Atkins, Gerald J., Beck, Charles R., Bonvin, A. M. J. J., Bourke, Emer, Brand, Thomas ORCID: 0000-0001-7090-5356, Braun, Ralf J., Bull, James A., Cardoso, Pedro ORCID: 0000-0001-8119-9960, Carter, Dee ORCID: 0000-0002-4638-0059, Delahay, Robin M., Ducommun, Bernard, Duijf, Pascal H. G., Epp, Trevor, Eskelinen, Eeva-Liisa ORCID: 0000-0003-0006-7785, Fallah, Mazyar, Farber, Debora B., Fernandez-Triana, Jose, Feyerabend, Frank, Florio, Tullio ORCID: 0000-0002-2394-996X, Friebe, Michael, Furuta, Saori, Gabrielsen, Mads, Gruber, Jens, Grybos, Malgorzata, Han, Qian, Heinrich, Michael, Helantera, Heikki, Huber, Michael, Jeltsch, Albert ORCID: 0000-0001-6113-9290, Jiang, Fan, Josse, Claire ORCID: 0000-0003-0315-3718, Jurman, Giuseppe, Kamiya, Haruyuki ORCID: 0000-0002-2618-3146, de Keersmaecker, Kim, Kristiansson, Erik, de Leeuw, Frank-Erik, Li, Jiuyong ORCID: 0000-0002-9023-1878, Liang, Shide, Lopez-Escamez, Jose A., Lopez-Ruiz, Francisco J., Marchbank, Kevin J., Marschalek, Rolf, Martin, Carmen S., Miele, Adriana E., Montagutelli, Xavier, Morcillo, Esteban, Nicoletti, Rosario, Niehof, Monika, O'Toole, Ronan ORCID: 0000-0002-4579-4479, Ohtomo, Toshihiko, Oster, Henrik ORCID: 0000-0002-1414-7068, Palma, Jose-Alberto ORCID: 0000-0002-1345-6774, Paterson, Russell, Peifer, Mark, Portilla, Maribel, Portillo, M. C., Pritchard, Antonia L., Pusch, Stefan, Raghava, Gajendra P. S., Roberts, Nicola J., Ross, Kehinde, Schuele, Birgitt, Sergeant, Kjell, Shen, Jun ORCID: 0000-0002-9403-7140, Stella, Alessandro ORCID: 0000-0002-9035-6267, Sukocheva, Olga ORCID: 0000-0003-1041-3311, Uversky, Vladimir N. ORCID: 0000-0002-4037-5857, Vanneste, Sven, Villet, Martin H., Viveiros, Miguel ORCID: 0000-0001-9676-6251, Vorholt, Julia A., Weinstock, Christof, Yamato, Masayuki, Zabetakis, Ioannis ORCID: 0000-0001-8175-950X, Zhao, Xin, Ziegler, Andreas, Aizat, Wan M., Atlas, Lauren, Bridges, Kristina M., Chakraborty, Sayan, Deschodt, Mieke, Domingues, Helena S., Esfahlani, Shabnam S., Falk, Sebastian, Guisado, J. L., Kane, Nolan C., Kueberuwa, Gray, Lau, Colleen L., Liang, Dai, Liu, Enwu ORCID: 0000-0003-2580-3523, Luu, Andreas M., Ma, Chuang, Ma, Lisong, Moyer, Robert, Norris, Adam D., Panthee, Suresh ORCID: 0000-0003-4021-7936, Parsons, Jerod R., Peng, Yousong, Pinto, Ines Mendes, Reschke, Cristina R., Sillanpaa, Elina, Stewart, Christopher J., Uhle, Florian, Yang, Hui, Zhou, Kai, Zhu, Shu, Ashry, Mohamed ORCID: 0000-0001-6259-1764, Bergsland, Niels, Berthold, Maximilian ORCID: 0000-0003-1985-6426, Chen, Chang-Er, Colella, Vito, Cuypers, Maarten, Eskew, Evan A., Fan, Xiao, Gajda, Maksymilian, Gonzalezlez-Prendes, Rayner, Goodin, Amie, Graham, Emily B., Groen, Ewout J. N., Gutierrez-Sacristan, Alba, Habes, Mohamad, Heffler, Enrico, Higginbottom, Daniel B., Janzen, Thijs, Jayaraman, Jayakumar, Jibb, Lindsay A., Jongen, Stefan, Kinyanjui, Timothy ORCID: 0000-0001-5461-4946, Koleva-Kolarova, Rositsa G., Li, Zhixiu, Liu, Yu-Peng, Lund, Bjarte A., Lussier, Alexandre A., Ma, Liping, Mier, Pablo ORCID: 0000-0003-3663-2352, Moore, Matthew D., Nagler, Katja, Orme, Mark W., Pearson, James A., Prajapati, Anilkumar S., Saito, Yu, Troder, Simon E., Uchendu, Florence, Verloh, Niklas, Voutchkova, Denitza D., Abu-Zaid, Ahmed, Bakkach, Joaira, Baumert, Philipp ORCID: 0000-0002-5463-1954, Dono, Marcos ORCID: 0000-0002-6895-2433, Hanson, Jack, Herbelet, Sandrine ORCID: 0000-0003-1911-0173, Hobbs, Emma, Kulkarni, Ameya, Kumar, Narendra, Liu, Siqi, Loft, Nikolai D., Reddan, Tristan, Senghore, Thomas ORCID: 0000-0002-9846-9485, Vindin, Howard, Xu, Haotian, Bannon, Ross, Chen, Branson ORCID: 0000-0002-4224-0753, Cheung, Johnny T. K., Cooper, Jeffrey, Esnakul, Ashwini K., Feghali, Karine A., Ghelardi, Emilia, Gnasso, Agostino, Horbar, Jeffrey, Lai, Hei M., Li, Jian, Ma, Lan, Ma, Ruiyan, Pan, Zihang, Peres, Marco A., Pranata, Raymond ORCID: 0000-0003-3998-6551, Seow, Esmond, Sydes, Matthew ORCID: 0000-0002-9323-1371, Testoni, Ines, Westermair, Anna L., Yang, Yongliang, Afnan, Masoud, Albiol, Joan, Albuquerque, Lucia G., Amiya, Eisuke ORCID: 0000-0003-2810-8040, Amorim, Rogerio M., An, Qianli ORCID: 0000-0001-6641-8977, Andersen, Stig U., Aplin, John D., Argyropoulos, Christos, Asmann, Yan W., Assaeed, Abdulaziz M., Atanasov, Atanas G., Atchison, David A., Avery, Simon V., Avillach, Paul, Baade, Peter D., Backman, Lars, Badie, Christophe, Baldi, Alfonso, Ball, Elizabeth, Bardot, Olivier, Barnett, Adrian G., Basner, Mathias, Batra, Jyotsna, Bazanova, O. M., Beale, Andrew, Beddoe, Travis, Bell, Melanie L., Berezikov, Eugene, Berners-Price, Sue, Bernhardt, Peter, Berry, Edward, Bessa, Theolis B., Billington, Craig, Birch, John, Blakely, Randy D., Blaskovich, Mark A. T., Blum, Robert, Boelaert, Marleen, Bogdanos, Dimitrios, Bosch, Carles, Bourgoin, Thierry, Bouvard, Daniel, Boykin, Laura M., Bradley, Graeme, Braun, Daniel, Brownlie, Jeremy, Bruhl, Albert, Burt, Austin ORCID: 0000-0001-5146-9640, Butler, Lisa M., Byrareddy, Siddappa N., Byrne, Hugh J., Cabantous, Stephanie ORCID: 0000-0002-8406-9421, Calatayud, Sara, Candal, Eva, Carlson, Kimberly, Casillas, Sonia ORCID: 0000-0001-8191-0062, Castelvetro, Valter, Caswell, Patrick T., Cavalli, Giacomo, Cerovsky, Vaclav, Chagoyen, Monica, Chen, Chang-Shi, Chen, Dong F., Chen, Hao, Chen, Hui, Chen, Jui-Tung, Chen, Yinglong ORCID: 0000-0003-0798-8683, Cheng, Changxiu, Cheng, Jianlin, Chinapaw, Mai, Chinopoulos, Christos ORCID: 0000-0003-0183-4149, Cho, William C. S., Chong, Lillian, Chowdhury, Debashish, Chwalibog, Andre, Ciresi, A., Cockcroft, Shamshad, Conesa, Ana, Cook, Penny A., Cooper, David N., Coqueret, Olivier, Corea, Enoka M., Costa, Elisio ORCID: 0000-0003-1158-1480, Coupland, Carol, Crawford, Stephanie Y., Cruz, Aparecido D., Cui, Huijuan, Cui, Qiang, Culver, David C., D'Angiulli, Amedeo, Dahms, Tanya E. S., Daigle, France, Dalgleish, Raymond, Danielsen, Havard E., Darras, Sebastien, Davidson, Sean M., Day, David A., Degirmenci, Volkan, Demaison, Luc, Devriendt, Koenraad, Ding, Jiandong, Dogan, Yunus, Dong, X. C., Donner, Claudio F., Dressick, Walter, Drevon, Christian A., Duan, Huiling, Ducho, Christian, Dumaz, Nicolas ORCID: 0000-0003-3511-2160, Dwarakanath, Bilikere S., Ebell, Mark H., Eisenhardt, Steffen, Elkum, Naser ORCID: 0000-0002-0457-0444, Engel, Nadja, Erickson, Timothy B., Fairhead, Michael ORCID: 0000-0001-5361-3933, Faville, Marty J., Fejzo, Marlena S., Festa, Fernanda, Feteira, Antonio, Flood-Page, Patrick, Forsayeth, John, Fox, Simon A., Franks, Steven J., Frentiu, Francesca D., Frilander, Mikko J., Fu, Xinmiao ORCID: 0000-0003-3361-6904, Fujita, Satoshi, Galea, Ian ORCID: 0000-0002-1268-5102, Galluzzi, Luca ORCID: 0000-0002-1747-526X, Gani, Federica, Ganpule, Arvind P., Garcia-Alix, Antonio, Gedye, Kristene, Giordano, Maurizio ORCID: 0000-0001-9917-7591, Giunta, Cecilia, Gleeson, Paul A., Goarant, Cyrille ORCID: 0000-0002-0690-9464, Gong, Haipeng, Gora, Diop, Gough, Michael J., Goyal, Ravinder, Graham, Kathryn E., Grande-Perez, Ana, Graves, Patricia M., Greidanus, Harm, Grice, Darren, Grunau, Christoph ORCID: 0000-0002-2161-412X, Gumulya, Yosephine, Guo, Yabin, Gurevich, Vsevolod V., Gusev, Oleg ORCID: 0000-0002-6203-9758, Hacker, Elke, Hage, Steffen R., Hagen, Guy, Hahn, Steven, Haller, Dagmar M., Hammerschmidt, Sven, Han, Jianwei, Han, Renzhi, Handfield, Martin, Hapuarachchi, Hapuarachchige C., Harder, Timm, Hardingham, Jennifer E., Heck, Michelle, Heers, Marcel, Hew, Khe F., Higuchi, Yohei, St Hilaire, Cynthia, Hilton, Rachel, Hodzic, Enisa, Hone, Andrew, Hongoh, Yuichi ORCID: 0000-0002-5901-9625, Hu, Guoku ORCID: 0000-0002-4792-0416, Huber, Heinz P., Hueso, Luis E., Huirne, Judith, Hurt, Lisa, Idborg, Helena ORCID: 0000-0003-4041-4729, Ikeo, Kazuho, Ingley, Evan, Jakeman, Philip M., Jensen, Arne, Jia, Hong, Jia, Husen, Jia, Shuqin, Jiang, Jianping, Jiang, Xingyu, Jin, Yi, Jo, Daehyun, Johnson, Andrew M., Johnston, Marie, Jonscher, Karen R., Jorens, Philippe G., Jorgensen, Jens O. 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J., Kong, Xiangpeng, Konkle-Parker, Deborah, Korpela, Kalevi M., Kostrikis, Leondios G., Kraiczy, Peter, Kratz, Harald, Krause, Gunter, Krebsbach, Paul H., Kristensen, Soren R., Kumari, Prerna, Kunimatsu, Akira, Kurdak, Hatice, Kwon, Young D., Lachat, Carl, Lagisz, Malgorzata, Laky, Brenda, Lammerding, Jan, Lange, Matthias, Larrosa, Mar, Laslett, Andrew L., LeClair, Elizabeth E., Lee, Kyung-Woo, Lee, Ming-Yih, Lee, Moon-Soo ORCID: 0000-0003-0729-6943, Li, Genyuan, Li, Jiansheng, Lieb, Klaus, Lim, Yau Y., Lindsey, Merry L., Line, Paul-Dag, Liu, Dengcai, Liu, Fengbin, Liu, Haiyan, Liu, Hongde, Lloyd, Vett K., Lo, Te-Wen, Locci, Emanuela, Loidl, Josef, Lorenzen, Johan, Lorkowski, Stefan, Lovell, Nigel H., Lu, Hua, Lu, Wei, Lu, Zhiyong, Luengo, Gustavo S. ORCID: 0000-0001-8816-5536, Lundh, Lars-Gunnar, Lysy, Philippe A., Mabb, Angela, Mack, Heather G., Mackey, David A., Mahdavi, S. 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S., Gruneberg, Patrick, Gumede, Nicksy, Haore, Gbaguidi, Harrison, Pille ORCID: 0000-0003-4117-6910, Hoenner, Xavier, Hojsgaard, Diego, Hori, Hikaru, Ikonomopoulou, Maria P., Jeurissen, Patrick, Johnson, Daniel M., Kabra, Dhiraj, Kamagata, Koji, Karmakar, Chandan, Kasian, Olga, Kaye, Linda K., Khan, Murad M., Kim, Yong-Min, Kish, J. K., Kobold, Sebastian, Kohanbash, Gary, Kohls, Gregor, Kugler, Jan-Michael, Kumar, Gyanendra, Lacy-Colson, Jon, Latif, Asam, Lauschke, Volker M., Li, Bingling, Lim, Chinten J., Liu, Fang, Liu, Xiaodong, Lu, Jin-Jian, Lu, Qiang, Mahavadi, Poornima, Marzocchi, Ugo, McGarrigle, Christine A., van Meerten, Tom, Min, Rogier, Moal, Iain, Molari, Massimiliano, Molleman, Lucas, Mondal, Saiful R., Van de Mortel, Thea, Moss, W. 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Hosseinibarkooie, Seyyedmohsen, Peters, Miriam, Torres-Benito, Laura, Rastetter, Raphael H., Hupperich, Kristina, Hoffmann, Andrea, Mendoza-Ferreira, Natalia, Kaczmarek, Anna, Janzen, Eva, Milbradt, Janine, Lamkemeyer, Tobias, Rigo, Frank, Bennett, C. Frank, Guschlbauer, Christoph, Bueschges, Ansgar, Hammerschmidt, Matthias, Riessland, Markus ORCID: 0000-0003-2592-5045, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Clemen, Christoph S. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2016). The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. Am. J. Hum. Genet., 99 (3). S. 647 - 666. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Advances in understanding the role of disease-associated proteins in spinal muscular atrophy. Expert Rev. Proteomics, 14 (7). S. 581 - 593. ABINGDON: TAYLOR & FRANCIS LTD. ISSN 1744-8387

Janzen, Eva, Mendoza-Ferreira, Natalia, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Hupperich, Kristina, Tschanz, Theresa, Grysko, Vanessa, Riessland, Markus ORCID: 0000-0003-2592-5045, Hammerschmidt, Matthias, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Torres-Benito, Laura and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. Brain, 141. S. 2343 - 2362. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Janzen, Eva, Wolff, Lisa, Mendoza-Ferreira, Natalia, Hupperich, Kristina, Delle Vedove, Andrea, Hosseinibarkooie, Seyyedmohsen, Kye, Min Jeong and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). PLS3 Overexpression Delays Ataxia in Chp1 Mutant Mice. Front. Neurosci., 13. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-453X

Kalbe, Elke, Roheger, Mandy ORCID: 0000-0002-6015-3194, Paluszak, Kay, Meyer, Julia, Becker, Jutta, Fink, Gereon R., Kukolja, Juraj, Rahn, Andreas, Szabados, Florian, Wirth, Brunhilde and Kessler, Josef (2018). Effects of a Cognitive Training With and Without Additional Physical Activity in Healthy Older Adults: A Follow-Up 1 Year After a Randomized Controlled Trial. Front. Aging Neurosci., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1663-4365

Karakaya, Mert, Mazaheri, Neda, Polat, Ipek, Bharucha-Goebel, Diana, Donkervoort, Sandra, Maroofian, Reza, Shariati, Gholamreza ORCID: 0000-0002-6295-127X, Hoelker, Irmgard, Monaghan, Kristin, Winchester, Sara, Zori, Robert, Galehdari, Hamid, Bonnemann, Carsten G., Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation. Brain, 140. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Karakaya, Mert, Paketci, Cem ORCID: 0000-0003-3587-6830, Altmueller, Janine, Thiele, Holger, Hoelker, Irmgard, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy. Am. J. Med. Genet. A, 179 (8). S. 1580 - 1585. HOBOKEN: WILEY. ISSN 1552-4833

Karakaya, Mert ORCID: 0000-0001-5395-8894, Storbeck, Markus, Strathmann, Eike A., Delle Vedove, Andrea, Hoelker, Irmgard, Altmueller, Janine, Naghiyeva, Leyla, Schmitz-Steinkrueger, Lea, Vezyroglou, Katharina, Motameny, Susanne, Alawbathani, Salem, Thiele, Holger, Polat, Ayse Ipek, Okur, Derya, Boostani, Reza, Karimiani, Ehsan Ghayoor, Wunderlich, Gilbert, Ardicli, Didem, Topaloglu, Haluk, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Schrank, Bertold, Maroofian, Reza, Magnusson, Olafur, Yis, Uluc, Nuernberg, Peter, Heller, Raoul and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum. Mutat., 39 (9). S. 1284 - 1299. HOBOKEN: WILEY. ISSN 1098-1004

Karakaya, Mert, Yilmaz, Sanem, Storbeck, Markus, Hoelker, Irmgard, Heller, Raoul, Serdaroglu, Gul, Gokben, Sarenur, Yis, Uluc and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). PRUNE1: a disease-causing gene for secondary microcephaly. Brain, 140. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Keller, Natalie, Mendoza-Ferreira, Natalia, Maroofian, Reza, Chelban, Viorica, Khalil, Youssef ORCID: 0000-0001-9025-3017, Mills, Philippa B., Boostani, Reza, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Thiele, Holger ORCID: 0000-0002-0169-998X, Houlden, Henry, Wirth, Brunhilde and Karakaya, Mert (2020). Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism. Neuromusc. Disord., 30 (7). S. 583 - 590. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Krosschell, Kristin J., Kissel, John T., Townsend, Elise L., Simeone, Sarah D., Zhang, Ren Zhe, Reyna, Sandra P., Crawford, Thomas O., Schroth, Mary K., Acsadi, Gyula, Kishnani, Priya S., Von Kleist-Retzow, Juergen-Christoph, Hero, Barbara, D'Anjou, Guy, Smith, Edward C., Elsheikh, Bakri, Simard, Louise R., Prior, Thomas W., Scott, Charles B., Lasalle, Bernard, Sakonju, Ai, Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Swoboda, Kathryn J. (2018). CLINICAL TRIAL OF L-CARNITINE AND VALPROIC ACID IN SPINAL MUSCULAR ATROPHY TYPE I. Muscle Nerve, 57 (2). S. 193 - 200. HOBOKEN: WILEY. ISSN 1097-4598

Mendoza-Ferreira, Natalia, Coutelier, Marie ORCID: 0000-0002-0261-7210, Janzen, Eva, Hosseinibarkooie, Seyyedmohsen, Loehr, Heiko, Schneider, Svenja, Milbradt, Janine, Karakaya, Mert, Riessland, Markus ORCID: 0000-0003-2592-5045, Pichlo, Christian, Torres-Benito, Laura, Singleton, Andrew, Zuchner, Stephan, Brice, Alexis, Durr, Alexandra, Hammerschmidt, Matthias, Stevanin, Giovanni ORCID: 0000-0001-9368-8657 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. Neurol.-Genet., 4 (1). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839

Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique ORCID: 0000-0001-6593-7644, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hoelker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan and Wirth, Brunhilde (2020). De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am. J. Hum. Genet., 107 (4). S. 763 - 778. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Mercuri, Eugenio ORCID: 0000-0002-9851-5365, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico ORCID: 0000-0001-9276-4590, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon ORCID: 0000-0002-8998-5234, Qian, Ying and Sejersen, Thomas (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromusc. Disord., 28 (2). S. 103 - 116. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364

Nascimento, Fabio A. ORCID: 0000-0002-7161-6385, Raskin, Salmo, Wirth, Brunhilde and Teive, Helio Afonso (2018). BEYOND WHOLE-EXOME SEQUENCING: A PROPOS OF TWO NEURODEGENERATIVE DISEASES. Neurology, 90. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Rademacher, Sebastian ORCID: 0000-0002-1592-9838, Verheijen, Bert M., Hensel, Niko, Peters, Miriam, Bora, Gamze, Brandes, Gudrun, de Sa, Renata Vieira, Heidrich, Natascha, Fischer, Silke, Brinkmann, Hella, van der Pol, W. Ludo, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Pasterkamp, R. Jeroen and Claus, Peter ORCID: 0000-0003-3824-9445 (2017). Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA). Hum. Mol. Genet., 26 (20). S. 3946 - 3960. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Rehorst, Wiebke A., Thelen, Maximilian P., Nolte, Hendrik, Tuerk, Clara, Cirak, Sebahattin, Peterson, Jonathan M., Wong, G. William, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Krueger, Marcus, Winter, Dominic and Kye, Min Jeong ORCID: 0000-0002-1323-7256 (2019). Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy. Acta Neuropathol. Commun., 7 (1). LONDON: BMC. ISSN 2051-5960

Riessland, Markus ORCID: 0000-0003-2592-5045, Kaczmarek, Anna, Schneider, Svenja, Swoboda, Kathryn J., Loehr, Heiko, Bradler, Cathleen, Grysko, Vanessa, Dimitriadi, Maria, Hosseinibarkooie, Seyyedmohsen, Torres-Benito, Laura, Peters, Miriam, Upadhyay, Aaradhita, Biglari, Nasim, Kroeber, Sandra, Hoelker, Irmgard, Garbes, Lutz, Gilissen, Christian ORCID: 0000-0003-1693-9699, Hoischen, Alexander ORCID: 0000-0002-8072-4476, Nuernberg, Gudrun, Nuernberg, Peter, Walter, Michael, Rigo, Frank, Bennett, C. Frank, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Hart, Anne C., Hammerschmidt, Matthias, Kloppenburg, Peter and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis. Am. J. Hum. Genet., 100 (2). S. 297 - 316. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Salpietro, Vincenzo ORCID: 0000-0003-0132-7921, Lin, Weichun, Delle Vedove, Andrea, Storbeck, Markus, Liu, Yun ORCID: 0000-0003-2063-7132, Efthymiou, Stephanie, Manole, Andreea ORCID: 0000-0002-9397-8248, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnakumar, Shyam S., Pitt, Matthew, Bello, Oscar D., Rothman, James E., Basel-Vanagaite, Lina, Hubshman, Monika Weisz, Aharoni, Sharon, Manzur, Adnan Y., Wirth, Brunhilde ORCID: 0000-0003-4051-5191 and Houlden, Henry (2017). Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome. Ann. Neurol., 81 (4). S. 597 - 604. HOBOKEN: WILEY. ISSN 1531-8249

Shorrock, Hannah K., van der Hoorn, Dinja, Boyd, Penelope J., Hurtado, Maica Llavero, Lamont, Douglas J., Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Sleigh, James N. ORCID: 0000-0002-3782-9045, Schiavo, Giampietro, Wishart, Thomas M., Groen, Ewout J. N. and Gillingwater, Thomas H. (2018). UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy. Brain, 141. S. 2878 - 2895. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156

Storbeck, Markus, Eriksen, Beate Horsberg, Unger, Andreas, Hoelker, Irmgard, Aukrust, Ingvild, Martinez-Carrera, Lilian A., Linke, Wolfgang A., Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur. J. Hum. Genet., 25 (9). S. 1040 - 1049. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Strathmann, Eike A., Peters, Miriam, Hosseinibarkooie, Seyyedmohsen, Rigo, Frank W., Bennett, C. Frank, Zaworski, Phillip G., Chen, Karen S., Nothnagel, Michael ORCID: 0000-0001-8305-7114 and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2018). Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice. PLoS One, 13 (9). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Thelen, Maximilian Paul, Wirth, Brunhilde and Kye, Min Jeong (2020). Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons. Acta Neuropathol. Commun., 8 (1). LONDON: BMC. ISSN 2051-5960

Torres-Benito, Laura, Schneider, Svenja, Rombo, Roman, Ling, Karen K., Grysko, Vanessa, Upadhyay, Aaradhita, Kononenko, Natalia L., Rigo, Frank, Bennett, C. Frank and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice. Am. J. Hum. Genet., 105 (1). S. 221 - 231. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Unger, Andreas, Dekomien, Gabriele, Guettsches, Anne, Dreps, Thomas, Kley, Rudolf, Tegenthoff, Martin, Ferbert, Andreas, Weis, Joachim, Heyer, Christoph, Linke, Wolfgang A., Martinez-Carrera, Lilian, Storbeck, Markus, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Hoffjan, Sabine and Vorgerd, Matthias (2016). Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. Neurology, 87 (21). S. 2235 - 2244. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1526-632X

Upadhyay, Aaradhita, Hosseinibarkooie, Seyyedmohsen, Schneider, Svenja, Kaczmarek, Anna, Torres-Benito, Laura, Mendoza-Ferreira, Natalia, Overhoff, Melina, Rombo, Roman, Grysko, Vanessa, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Kononenko, Natalia L. and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2019). Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological. Front. Molec. Neurosci., 12. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1662-5099

Walsh, Melissa B., Janzen, Eva, Wingrove, Emily, Hosseinibarkooie, Seyyedmohsen, Muela, Natalia Rodriguez, Davidow, Lance, Dimitriadi, Maria, Norabuena, Erika M., Rubin, Lee L., Wirth, Brunhilde and Hart, Anne C. (2020). Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy. BMC Biol., 18 (1). LONDON: BMC. ISSN 1741-7007

Wirth, Brunhilde (2018). CHP1-Mutation causes cerebellar Ataxia. Med. Genet., 30 (1). S. 226 - 227. NEW YORK: SPRINGER. ISSN 1863-5490

Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2017). Commemoration of 15 years ESHG SPC member and chair from 2009 to 2016. Eur. J. Hum. Genet., 25. S. S37 - 2. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438