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101. Cervical Artery Dissection in Young Adults in the Stroke in Young Fabry Patients (sifap1) Study

Author

von Sarnowski, Bettina, Schminke, Ulf, Grittner, Ulrike, Fazekas, Franz, Tanislav, Christian, Kaps, Manfred, Tatlisumak, Turgut, Putaala, Jukka, Haeusler, Karl Georg, do Amaral e Silva, Alexandre Décio Borges, Kinsella, Justin A., McCabe, Dominick J.H., Tobin, Oliver W., Huber, Roman, Willeit, Johann, Furtner, Martin, Bodechtel, Ulf, Rolfs, Arndt, Kessler, Christof, and Hennerici, Michael G.

Published
2015
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104. Headache as a symptom at stroke onset in 4,431 young ischaemic stroke patients. Results from the “stroke in young fabry patients (SIFAP1) study”

Author

Kropp, Peter, Holzhausen, Martin, Kolodny, Edwin, Becker, Ulf, Dichgans, Martin, Diez-Tejedor, Exuperio, Enzinger, Christian, Fazekas, Franz, Fuentes, Blanca, Karpinska, Anna, Meyer, Wolfgang, Tanislav, Christian, Böttcher, Tobias, Rolfs, Arndt, and Stroke in Young Fabry Patients (sifap) Investigators

Published
2013
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109. MRI Radiomic Signature of White Matter Hyperintensities Is Associated With Clinical Phenotypes

Author

Bretzner, Martin, primary, Bonkhoff, Anna K., additional, Schirmer, Markus D., additional, Hong, Sungmin, additional, Dalca, Adrian V., additional, Donahue, Kathleen L., additional, Giese, Anne-Katrin, additional, Etherton, Mark R., additional, Rist, Pamela M., additional, Nardin, Marco, additional, Marinescu, Razvan, additional, Wang, Clinton, additional, Regenhardt, Robert W., additional, Leclerc, Xavier, additional, Lopes, Renaud, additional, Benavente, Oscar R., additional, Cole, John W., additional, Donatti, Amanda, additional, Griessenauer, Christoph J., additional, Heitsch, Laura, additional, Holmegaard, Lukas, additional, Jood, Katarina, additional, Jimenez-Conde, Jordi, additional, Kittner, Steven J., additional, Lemmens, Robin, additional, Levi, Christopher R., additional, McArdle, Patrick F., additional, McDonough, Caitrin W., additional, Meschia, James F., additional, Phuah, Chia-Ling, additional, Rolfs, Arndt, additional, Ropele, Stefan, additional, Rosand, Jonathan, additional, Roquer, Jaume, additional, Rundek, Tatjana, additional, Sacco, Ralph L., additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Sousa, Alessandro, additional, Stanne, Tara M., additional, Strbian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Vagal, Achala, additional, Wasselius, Johan, additional, Woo, Daniel, additional, Wu, Ona, additional, Zand, Ramin, additional, Worrall, Bradford B., additional, Maguire, Jane M., additional, Lindgren, Arne, additional, Jern, Christina, additional, Golland, Polina, additional, Kuchcinski, Grégory, additional, and Rost, Natalia S., additional

Published
2021
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110. Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors

Author

Bakker, Mark K., van der Spek, Rick A.A., van Rheenen, Wouter, Morel, Sandrine, Bourcier, Romain, Hostettler, Isabel C., Alg, Varinder S., van Eijk, Kristel R., Koido, Masaru, Akiyama, Masato, Terao, Chikashi, Matsuda, Koichi, Walters, Robin G., Lin, Kuang, Li, Liming, Millwood, Iona Y., Chen, Zhengming, Rouleau, Guy A., Zhou, Sirui, Rannikmäe, Kristiina, Sudlow, Cathie L.M., Houlden, Henry, van den Berg, Leonard H., Dina, Christian, Naggara, Olivier, Gentric, Jean-Christophe, Shotar, Eimad, Eugène, François, Desal, Hubert, Winsvold, Bendik S., Børte, Sigrid, Johnsen, Marianne Bakke, Brumpton, Ben M., Sandvei, Marie Søfteland, Willer, Cristen J., Hveem, Kristian, Zwart, John-Anker, Verschuren, W. M. Monique, Friedrich, Christoph M., Hirsch, Sven, Schilling, Sabine, Dauvillier, Jérôme, Martin, Olivier, Martinsen, Amy E, Aamodt, Anne Hege, Skogholt, Anne Heidi, Sandset, Else Charlotte, Kristoffersen, Espen S, Ellekjaer, Hanne, Heuch, Ingrid, Nielsen, Jonas Bille, Hagen, Knut, Fritsche, Lars, Thomas, Laurent F., Pedersen, Linda, Gabrielsen, Maiken E, Vigeland, Maria Dehli, Holmen, Oddgeir, Zhou, Wei, Chen, Junshi, Chen (PI), Zhengming, Clarke, Robert, Collins, Rory, Guo, Yu, Li (PI), Liming, Liu, Depei, Lv, Jun, Peto, Richard, Walters, Robin, Avery, Daniel, Boxall, Ruth, Bennett, Derrick, Chang, Yumei, Chen, Yiping, Du, Huaidong, Gan, Wei, Gilbert, Simon, Hacker, Alex, Hill, Michael, Holmes, Michael, Iona, Andri, Kartsonaki, Christiana, Kerosi, Rene, Kong, Ling, Lancaster, Garry, Lewington, Sarah, McDonnell, John, Millwood, Iona, Nie, Qunhua, Ryder, Paul, Sansome, Sam, Schmidt-Valle, Dan, Sherliker, Paul, Sohoni, Rajani, Stevens, Becky, Turnbull, Iain, Wang, Lin, Wright, Neil, Yang, Ling, Yang, Xiaoming, Yao, Pang, Bian, Zheng, Han, Xiao, Hou, Can, Pei, Pei, Liu, Chao, Yu, Canqing, Pang, Zengchang, Gao, Ruqin, Li, Shanpeng, Wang, Shaojie, Liu, Yongmei, Du, Ranran, Cheng, Liang, Tian, Xiaocao, Zhang, Hua, Zhai, Yaoming, Ning, Feng, Sun, Xiaohui, Li, Feifei, Lv, Silu, Wang, Junzheng, Hou, Wei, Zou, Mingyuan, Yan, Shichun, Zhou, Xue, Yu, Bo, Li, Yanjie, Xu, Qinai, Kang, Quan, Guo, Ziyan, Wang, Dan, Hu, Ximin, Chen, Jinyan, Fu, Yan, Wang, Xiaohuan, Weng, Min, Guo, Zhendong, Wu, Shukuan, Li, Yilei, Li, Huimei, Wu, Ming, Zhou, Yonglin, Zhou, Jinyi, Tao, Ran, Yang, Jie, Su, Jian, liu, Fang, Zhang, Jun, Hu, Yihe, Lu, Yan, Ma, Liangcai, Tang, Aiyu, Hua, Yujie, Jin, Jianrong, Liu, Jingchao, Tang, Zhenzhu, Chen, Naying, Huang, Ying, Li, Mingqiang, Meng, Jinhuai, Pan, Rong, Jiang, Qilian, Lan, Jian, Liu, Yun, Wei, Liuping, Zhou, Liyuan, Chen, Ningyu, Wang, Ping, Meng, Fanwen, Qin Sisi Wang, Yulu, Wu, Xianping, Zhang, Ningmei, Chen, Xiaofang, Zhou, Weiwei, Luo, Guojin, Li, Jianguo, Zhong, Xunfu, Liu, Jiaqiu, Sun, Qiang, Ge, Pengfei, Ren, Xiaolan, Dong, Caixia, Zhang, Hui, Mao, Enke, Wang, Xiaoping, Wang, Tao, Zhang, Xi, Zhou, Ding Zhang, Zhou, Gang, Feng, Shixian, Chang, Ling, Fan, Lei, Gao, Yulian, He, Tianyou, Sun, Huarong, He, Pan, Hu, Chen, Zhang, Xukui, Wu, Huifang, Yu, Min, Hu, Ruying, Wang, Hao, Gong, Weiwei, Wang, Meng, Xie, Kaixu, Chen, Lingli, Pan, Dongxia, Gu, Qijun, Huang, Yuelong, Chen, Biyun, Yin, Li, Liu, Huilin, Fu, Zhongxi, Xu, Qiaohua, Xu, Xin, Zhang, Hao, Long, Huajun, Zhang, Libo, Nagai, Akiko, Muto, Kaori, Hirata, Makoto, Morisaki, Takayuki, Yamashita, Yasushi, Kamatani, Yoichiro, Kambara, Yoko, Murakami, Yoshinori, Masumoto, Akihide, Nagayama, Satoshi, Miki, Yoshio, Yoshimori, Kozo, Fujioka, Tomoaki, Takata, Ryo, Yamaji, Ken, Takahashi, Kazuhisa, Asai, Satoshi, Takahashi, Yasuo, Minami, Shiro, Yamaguchi, Hiroki, Koretsune, Yukihiro, Nishizawa, Yasuko, Kodama, Ken, Kutsumi, Hiromu, Suzuki, Takao, Sinozaki, Nobuaki, Murayama, Shigeo, Furukawa, Yoichi, Yamanashi, Yuji, Papagiannaki, Chrisanthi, Piotin, Michel, Trystram, Denis, Edjlali-Goujon, Myriam, Boulouis, Grégoire, Rodriguez, Christine, Hassen, Waghi Ben, Saleme, Suzanna, Mounayer, Charbel, Rouchaud, Aymeric, Levrier, Olivier, Aguettaz, Pierre, Combaz, Xavier, Pasco, Anne, l’Allinec, Vincent, Bintner, Marc, Molho, Marc, Pascale, Gauthier, Chivot, Cyril, Costalat, Vincent, Darganzil, Cyril, Bonafé, Alain, Januel, Anne Christine, Michelozzi, Caterina, Cognard, Christophe, Bonneville, Fabrice, Tall, Philippe, Darcourt, Jean, Biondi, Alessandra, Iosif, Cristina, Ferre, Jean Christophe, Gauvrit, Jean Yves, Eugene, François, Raoult, Hélène, Gentric, Jean Christophe, Ognard, Julien, Anxionnat, René, Gory, Benjamin, Bracard, Serge, Derelle, Anne Laure, Tonnelet, Romain, Spelle, Laurent, Ikka, Léon, Ozanne, Augustin, Gallas, Sophie, Caroff, Jildaz, Achour, Nidal Ben, Moret, Jacques, Chabert, Emmanuel, Berge, Jérôme, Marnat, Gaultier, Barreau, Xavier, Gariel, Florent, Clarencon, Frédéric, Aggour, Mohammed, Ricolfi, Frédéric, Chavent, Adrien, Thouant, Pierre, Lebidinsky, Pablo, Lemogne, Brivael, Herbreteau, Denis, Bibi, Richard, Janot, Kevin, Pierot, Laurent, Soize, Sébastien, Labeyrie, Marc Antoine, Vandendries, Christophe, Kazemi, Appoline, Leclerc, Xavier, Pruvo, Jean Pierre, Bricout, Nicolas, Velasco, Stéphane, Boucebci, Samy, Lemmens, Robin, Pandolfo, Massimo, Bodenant, Marie, Louillet, Fabien, Mas, Jean-Louis, Deltour, Sandrine, Leder, Sara, Léger, Anne, Canaple, Sandrine, Godefroy, Olivier, Giroud, Maurice, Jacquin, Agnès, Moulin, Thierry, Vuillier, Fabrice, Tzourio, Christophe, Santos, Michael Dos, Malik, Rainer, Hausser, Ingrid, Thomas-Feles, Constanze, Weber, Ralf, Grond-Ginsbach, Caspar, Hacke, Werner, Giossi, Alessia, Volonghi, Irene, Costa, Paolo, del Zotto, Elisabetta, Morotti, Andrea, Poli, Loris, Muiesan, Maria Lorenza, Salvetti, Massimo, Rosei, Enrico Agabiti, Lanfranconi, Silvia, Baron, Pierluigi, Ferrarese, Carlo, Susani, Emanuela, Giacalone, Giacomo, Paolucci, Stefano, Palmirotta, Raffaele, Guadagni, Fiorella, Paciaroni, Maurizio, Ballabio, Elena, Parati, Eugenio A., Fluri, Felix, Hatz, Florian, Gisler, Dominique, Amort, Margareth, Bevan, Steve, James, Tom, Olsson, Sandra, Holmegaard, Lukas, Altintas, Ayse, Martin, Juan José, Kittner, Steven, Mitchell, Braxton, Stine, Colin, O’Connell, Jeff, Dueker, Nicole, Koudstaal, Peter J., de Lau, Lonneke M.L., Hofman, Albert, Verhaaren, Benjamin F, Uitterlinden, Andre G, Montaner, Joan, Mendioroz, Maite, Yadav, Sunaina, Khan, Muhammad Saleem, Wilder, Michael, van Dijk, Ewoud, Maaijwee, Noortje, Rutten-Jacobs, Loes, Kramer, Jamie, Malik, Shaneela, Brott, Thomas G, Brown, Robert D, Singleton, Andrew, Hardy, John, Rich, Stephen S, Tanislav, Christian, Jungehülsing, Jan, Werring, David, Alg, Varinder, Hostettler, Isabel, Bonner, Stephen, Walsh, Daniel, Bulters, Diederik, Kitchen, Neil, Brown, Martin, Grieve, Joan, Roberts, Gareth, Jones, Timothy, Critchley, Giles, Sharma, Pankaj, Nelson, Richard, Whitfield, Peter, Ross, Stuart, Patel, Hiren, Eldridge, Paul, Saastamoinen, Kari, Patel, Umang, Lawrance, Enas, Vandabona, Subha, Mendelow, David, Teal, Rachel, Warner, Orlando, Kirkpatrick, Peter, Seshadri, Sudha, Kilarski, Laura, Hyacinth, Hyacinth I, Oliveira, Jamary, Marini, Sandro, Nyquist, Paul, Lewis, Cathryn, Norrving, Bo, Smith, Gustav, Rosand, Jonathan, Biffi, Alessandro, Kourkoulis, Christina, Anderson, Chris, Giese, Anne-Katrin, Bang, Oh Young, Chung, Jong-Won, Kim, Gyeong-Moon, Zhuang, Qishuai, Sheu, Wayne, Smalley, June, Howson, Joanna, Granata, Alessandra, Markus, Hugh, Wardlaw, Joanna, Cole, John, Thalamuthu, Anbupalam, Hopewell, Jemma, Worrall, Bradford, Bis, Josh, Tirschwell, David, Reiner, Alex, Dhar, Raj, Lee, Jin-Moo, Mortenson, Janne, Wassertheil-Smoller, Sylvia, Prasad, Kameshwar, Fisher, Mark, Traenka, Christopher, Wang, Xingwu, Wang, Yongjun, Rouanet, Francois, Sibon, Igor, Sarnowski, Chloé, Maillard, Pauline, Aparicio, Hugo Javier, Dupuis, Josee, Yang, Qiong, Luvizutto, Gustavo, Chasman, Daniel, Rexrode, Kathryn, Harriot, Andrea, Phuah, Chia-Ling, Santo, Gustavo, Gerard, Jen, Liu, Guiyou, Aaron, Sanjith, Christudass, Christhunesa S., Salomi, BSB, Sanghera, Dharambir, Boehme, Amelia, Elkind, Mitchell, Gretarsdottir, Solveig, Lange, Leslie, Rost, Natalia, James, Michael, Stewart, Jill, Goldstein, Larry, Waddy, Salina, Vojinovic, Dina, Ikram, Arfan, Thijs, Vincent, Parati, Eugenio, Boncoraglio, Giorgio, Kooperberg, Charles, Abboud, Sherrine, Zand, Ramin, Bijlenga, Philippe, Selim, Magdy, Happola, Olli, Strbian, Daniel, Tomppo, Liisa, Pathak, Abhishek, Pfeiffer, Dorothea, Aires, de Buenos, de Carvalho, Joao Jose Freitas, Ribeiro, Priscila, Torres, Nuria, Barboza, Miguel, Plomaritoglou, Androniki, Bjorkegren, Johan, Chan, Yu-Feng Yvonne, Gudnason, Villi, Jimenez-Conde, Jordi, Soriano, Carolina, Roquer, Jaume, Bentley, Paul, Tournier-Lasserve, Elisabeth, Dufouil, Carole, Debette, Stephanie, Mishra, Aniket, Wee, Lawrence, Siddiqi, Saima, Wu, Jer-Yuarn, Ko, Tai-Ming, Bione, Silvia, Jood, Katarina, Tatlisumak, Turgut, Arauz, Antonio, Korostynski, Michal, Launer, Lenore, Yue, Suo, bersano, anna, Juchniewicz, Karol Józef, Mateusz, Adamski, Pera, Joanna, Wnuk, Marcin, Levi, Christopher, Gusdon, Aaron, Kostulas, Konstantinos, Maxwell, Jessye, Duering, Marco, Jagiella, Jeremiasz, Hata, Jun, Ninomiya, Toshiharu, Nguyen, Vinh, Thorarinsson, Bjorn Logi, Lee, Tsong-Hai, Rakitko, Alexandr, Dichgans, Martin, Lindgren, Arne, Wasselius, Johan, Drake, Mattias, Stenman, Martin, Ilinca, Andreea, Staals, Julie, Sadr-Nabavi, Ariane, Crawford, Katherine, Lena, Umme, Mateen, Farrah, Ay, Hakan, Wu, Ona, Schirmer, Markus, Romero, Javier, Cramer, Steve, Golland, Polina, Mueller, Bertram, Brown, Robert, Meschia, James, Ross, Owen A., Pare, Guillaume, Chong, Mike, mansour, Ossama yassin, Karaszewski, Bartosz, Enzinger, Christian, Schmidt, Reinhold, Seiler, Stephan, Pichler, Alexander, Ovbiagele, Bruce, Yamada, Yoshiji, Rundek, Tatjana, Blanton, Susan, P, John, Chern, Joseph, O'Donnell, Chris, Corriveau, Roderick, Bhattacharya, Pallab, Gwinn, Katrina, CHANDRA, BHARATENDU, Chen, Christopher, Kalaria, Raj, Koenig, Jim, Singh, Om Prakash, Olugbodi, Akintomi, Giralt, Eva, Saleheen, Danish, de Leeuw, Frank-Erik, Klijn, Karin, Olesen, Jes, Kubo, Michiaki, Spence, David, Pedersen, Annie, Olsson, Maja, Martín, Juan José, Braga, Gabriel, Xu, Huichun, Assimes, Tim, Raskurazhev, Anton, Lee, Wei Ling, Burri, Philippe, Frid, Petrea, GmbH, Heilbronn, Deng, Zhen, Habibi-koolaee, Mahdi, Vijayan, Murali, Leung, Thomas, Wong, Lawrence, Mok, Vincent, Choy, Richard, Jern, Christina, Lebedeva, Elena, Farrall, Martin, Jiayuan, Xu, Loo, Keat Wei, Rinkel, Gabriel, Magnus, Rudolf, Goncalves, Anderson, Franca, Paulo, Cendes, Iscia, Carrera, Caty, Fernandez-Cadenas, Israel, Kim, Helen, Rolfs, Arndt, Owolabi, Mayowa, Bakker, Mark, Ruigrok, Ynte, Hauer, Allard, Pulit, Sara L., Algra, Ale, van der Laan, Sander W., Macleod, Mary, Howard, George, Tiwari, Hemant, Irvin, Ryan, Albright, Karen C., Perry, Rodney, Kidwell, Chelsea, Pavlovic, Aleksandra, Sargurupremraj, Murali, Schilling, Sabrina, Pezzini, Alessandro, Abd-Allah, Foad, DeCarli, Charles, Liebeskind, David, Traylor, Matthew, Tan, Rhea, Danesh, John, Larsson, Susanna C., Rutten, Loes, Donatti, Amanda, Avelar, Wagner, Broderick, Joseph, Woo, Daniel, Kissela, Brett, Ibenez, Laura Garcia, Salman, Rustam, Sudlow, Cathie, McDonough, Caitrin Wheeler, Silliman, Scott, Magvanjav, Oyunbileg, van Agtmael, Tom, Walters, Matthew, Lorentzen, Erik, Stanne, Tara, Olsson, Martina, Nakagawa, Kazuma, Akinyemi, Rufus, Cotlatciuc, Ioana, O'Connell, Jeff, Sparks, Mary, Sorkin, John, Dave, Tushar, Naylor, Jill, Brown, Devin, Du, Rose, Kulik, Tobias B., Attia, John, Faber, James E, Rothwell, Peter, Márquez, Elsa Valdés, Mancuso, Michelangelo, Souza, Doralina Brum, de Silva, Ranil, Vibo, Riina, Korv, Janika, Maguire, Jane, Fornage, Myriam, Illoh, Kachikwu, Milewicz, Dianna, Majersik, Jennifer, DeHavenon, Adam, Kalani, Yashar, Alexander, Matthew, Cushman, Mary, Sale, Michele, Owens, Debra, Keene, Keith, Rich, Stephe, Psaty, Bruce, Longstreth, Will, Atadzhanov, Masharip, Wolfe, Stacey Quintero, Langefeld, Carl, Bushnell, Cheryl, Cruchaga, Carlos, Konrad, Jan, Liu, Junfeng, Sheth, Kevin, Falcone, Guido, Donahue J, Kathleen, Jones, Gregory T., Bown, Matthew J., Ko, Nerissa U., Coleman, Jonathan R.I., Breen, Gerome, Zaroff, Jonathan G., Klijn, Catharina J.M., Sargurupremraj, Muralidharan, Amouyel, Philippe, Debette, Stéphanie, Rinkel, Gabriel J.E., Worrall, Bradford B., Slowik, Agnieszka, Gaál-Paavola, Emilia I., Niemelä, Mika, Jääskeläinen, Juha E., von Und Zu Fraunberg, Mikael, Lindgren, Antti, Broderick, Joseph P., Werring, David J., Redon, Richard, Veldink, Jan H., Ruigrok, Ynte M., Stroke, HUNT All-In, Group, China Kadoorie Biobank Collaborative, Consortium, BioBank Japan Project, Group, ICAN Study, Group, CADISP, investigators, Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study, (ISGC), International Stroke Genetics Consortium, Morel, Sandrine, and Bijlenga, Philippe Alexandre Pierre

Subjects
genetics [Blood Pressure], Medizin, Genome-wide association study, Blood Pressure, Disease, ddc:616.07, Bioinformatics, 616: Innere Medizin und Krankheiten, 0302 clinical medicine, Risk Factors, physiopathology [Hypertension], genetics [Genetic Predisposition to Disease], Genetic risk factor, Stroke, 0303 health sciences, Smoking, genetics [Smoking], genetics [Intracranial Aneurysm], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Cerebrovascular disorder, 3. Good health, genetics [European Continental Ancestry Group], Hypertension, genetics [Polymorphism, Single Nucleotide], Subarachnoid hemorrhage, pathology [Intracranial Aneurysm], genetics [White People], Biology, Genetic correlation, pathology [Endothelial Cells], Polymorphism, Single Nucleotide, Article, White People, 03 medical and health sciences, Aneurysm, Asian People, ddc:570, Genetics, medicine, Humans, Genetic Predisposition to Disease, cardiovascular diseases, 030304 developmental biology, genetics [Subarachnoid Hemorrhage], genetics [Asian Continental Ancestry Group], 572: Biochemie, genetics [Asian People], pathology [Subarachnoid Hemorrhage], adverse effects [Smoking], Endothelial Cells, Subarachnoid Hemorrhage, medicine.disease, Intracranial aneurysm, Genetic architecture, ddc:616.8, Case-Control Studies, genetics [Hypertension], 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

An author correction to this article published in December 2020 is available at https://doi.org/10.1038/s41588-020-00760-4. Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new risk loci and the genetic architecture of intracranial aneurysms, we performed a cross-ancestry, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. We also find a suggestive role for endothelial cells by using gene mapping and heritability enrichment. Drug-target enrichment shows pleiotropy between intracranial aneurysms and antiepileptic and sex hormone drugs, providing insights into intracranial aneurysm pathophysiology. Finally, genetic risks for smoking and high blood pressure, the two main clinical risk factors, play important roles in intracranial aneurysm risk, and drive most of the genetic correlation between intracranial aneurysms and other cerebrovascular traits.

Published
2021

112. Additional file 1 of HAE patient self-sampling for biomarker establishment

Author

Förster, Toni M., Magerl, Markus, Maurer, Marcus, Zülbahar, Selen, Zielke, Susanne, Inhaber, Neil, Crocetta, Donatello, Rolfs, Arndt, and Skrahina, Volha

Subjects
ComputingMilieux_COMPUTERSANDEDUCATION, Data_FILES
Abstract

Additional file 1. The file contains a list of all sites that contributed to enrollment of participants.

Published
2021
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113. LIPAD (LRRK2/Luebeck International Parkinson's Disease) Study Protocol: Deep Phenotyping of an International Genetic Cohort

Author

Usnich, Tatiana, Vollstedt, Eva-Juliane, Schell, Nathalie, Skrahina, Volha, Bogdanovic, Xenia, Gaber, Hanaa, Förster, Toni M., Heuer, Andreas, Koleva-Alazeh, Natalia, Csoti, Ilona, Basak, Ayse Nazli, Ertan, Sibel, Genc, Gencer, Bauer, Peter, Lohmann, Katja, Grünewald, Anne, Schymanski, Emma, Trinh, Joanne, Schaake, Susen, Berg, Daniela, Gruber, Doreen, Isaacson, Stuart H., Kühn, Andrea A., Mollenhauer, Brit, Pedrosa, David J., Reetz, Kathrin, Sammler, Esther M., Valente, Enza Maria, Valzania, Franco, Volkmann, Jens, Zittel, Simone, Brüggemann, Norbert, Kasten, Meike, Rolfs, Arndt, Klein, Christine, and Group, The Lipad Study

Subjects
Multidisciplinaire, généralités & autres [D99] [Sciences de la santé humaine], Multidisciplinary, general & others [D99] [Human health sciences], nervous system diseases
Abstract

Background: Pathogenic variants in the Leucine-rich repeat kinase 2 ( LRRK2) gene are the most common known monogenic cause of Parkinson's disease (PD). LRRK2 -linked PD is clinically indistinguishable from idiopathic PD and inherited in an autosomal dominant fashion with reduced penetrance and variable expressivity that differ across ethnicities and geographic regions. Objective: To systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in PD patients, unaffected LRRK2 pathogenic variant carriers, and controls. A further focus is to enable the investigation of modifiers of penetrance and expressivity of LRRK2 pathogenic variants using genetic and environmental data. Methods: Eligible participants are invited for a personal or online examination which comprises completion of a detailed eCRF and collection of blood samples (to obtain DNA, RNA, serum/plasma, immune cells), urine as well as household dust. We plan to enroll 1,000 participants internationally: 300 with LRRK2 -linked PD, 200 with LRRK2 pathogenic variants but without PD, 100 PD patients with pathogenic variants in the GBA or PRKN genes, 200 patients with idiopathic PD, and 200 healthy persons without pathogenic variants. Results: The eCRF consists of an investigator-rated (1 h) and a self-rated (1.5 h) part. The first part includes the Movement Disorder Society Unified Parkinson's Disease Rating, Hoehn \&Yahr, and Schwab \& England Scales, the Brief Smell Identification Test, and Montreal Cognitive Assessment. The self-rating part consists of a PD risk factor, food frequency, autonomic dysfunction, and quality of life questionnaires, the Pittsburgh Sleep Quality Inventory, and the Epworth Sleepiness as well as the Hospital Anxiety and Depression Scales. The first 15 centers have been initiated and the first 150 participants enrolled (as of March 25th, 2021). Conclusions: LIPAD is a large-scale international scientific effort focusing on deep phenotyping of LRRK2 -linked PD and healthy pathogenic variant carriers, including the comparison with additional relatively frequent genetic forms of PD, with a future perspective to identify genetic and environmental modifiers of penetrance and expressivity Clinical Trial Registration: ClinicalTrials.gov , NCT04214509.

Published
2021

114. LIPAD (LRRK2/Luebeck International Parkinson's Disease) study protocol: deep phenotyping of an international genetic cohort

Author

Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512); Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Usnich, Tatiana; Vollstedt, Eva-Juliane; Schell, Nathalie; Skrahina, Volha; Bogdanovic, Xenia; Gaber, Hanaa; Foerster, Toni M.; Heuer, Andreas; Koleva-Alazeh, Natalia; Csoti, Ilona; Genç, Gencer; Bauer, Peter; Lohmann, Katja; Gruenewald, Anne; Schymanski, Emma L.; Trinh, Joanne; Schaake, Susen; Berg, Daniela; Gruber, Doreen; Isaacson, Stuart H.; Kuehn, Andrea A.; Mollenhauer, Brit; Pedrosa, David J.; Reetz, Kathrin; Sammler, Esther M.; Valente, Enza Maria; Valzania, Franco; Volkmann, Jens; Zittel, Simone; Brueggemann, Norbert; Kasten, Meike; Rolfs, Arndt; Klein, Christine, Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512); Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), and Usnich, Tatiana; Vollstedt, Eva-Juliane; Schell, Nathalie; Skrahina, Volha; Bogdanovic, Xenia; Gaber, Hanaa; Foerster, Toni M.; Heuer, Andreas; Koleva-Alazeh, Natalia; Csoti, Ilona; Genç, Gencer; Bauer, Peter; Lohmann, Katja; Gruenewald, Anne; Schymanski, Emma L.; Trinh, Joanne; Schaake, Susen; Berg, Daniela; Gruber, Doreen; Isaacson, Stuart H.; Kuehn, Andrea A.; Mollenhauer, Brit; Pedrosa, David J.; Reetz, Kathrin; Sammler, Esther M.; Valente, Enza Maria; Valzania, Franco; Volkmann, Jens; Zittel, Simone; Brueggemann, Norbert; Kasten, Meike; Rolfs, Arndt; Klein, Christine

Abstract

Background: pathogenic variants in the Leucine-rich repeat kinase 2 (LRRK2) gene are the most common known monogenic cause of Parkinson's disease (PD). LRRK2-linked PD is clinically indistinguishable from idiopathic PD and inherited in an autosomal dominant fashion with reduced penetrance and variable expressivity that differ across ethnicities and geographic regions. Objective: to systematically assess clinical signs and symptoms including non-motor features, comorbidities, medication and environmental factors in PD patients, unaffected LRRK2 pathogenic variant carriers, and controls. A further focus is to enable the investigation of modifiers of penetrance and expressivity of LRRK2 pathogenic variants using genetic and environmental data. Methods: eligible participants are invited for a personal or online examination which comprises completion of a detailed eCRF and collection of blood samples (to obtain DNA, RNA, serum/plasma, immune cells), urine as well as household dust. We plan to enroll 1,000 participants internationally: 300 with LRRK2-linked PD, 200 with LRRK2 pathogenic variants but without PD, 100 PD patients with pathogenic variants in the GBA or PRKN genes, 200 patients with idiopathic PD, and 200 healthy persons without pathogenic variants. Results: the eCRF consists of an investigator-rated (1 h) and a self-rated (1.5 h) part. The first part includes the Movement Disorder Society Unified Parkinson's Disease Rating, Hoehn &Yahr, and Schwab & England Scales, the Brief Smell Identification Test, and Montreal Cognitive Assessment. The self-rating part consists of a PD risk factor, food frequency, autonomic dysfunction, and quality of life questionnaires, the Pittsburgh Sleep Quality Inventory, and the Epworth Sleepiness as well as the Hospital Anxiety and Depression Scales. The first 15 centers have been initiated and the first 150 participants enrolled (as of March 25th, 2021). Conclusions: LIPAD is a large-scale international scientific effort focusing

Published
2021

115. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Author

Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., Kaya, Namik, Sanderson, Leslie E., Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A., Alzaidan, Hamad, Aldhalaan, Hesham, Perenthaler, Elena, Van Der Linde, Herma C., Nikoncuk, Anita, Kühn, Nikolas A., Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M., Alahmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, Alhargan, Aljouhra, Albader, Anoud A., Binhumaid, Faisal S., Goljan, Ewa, Monies, Dorota, Mustafa, Osama M., Aldosary, Mazhor, Albakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A. Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A., Karimiani, Ehsan Ghayoor, Meyer, Brian F., Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T., Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M., Schmidts, Miriam, Barakat, Tahsin Stefan, Van Ham, Tjakko J., and Kaya, Namik

Abstract

Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson's disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.

Published
2021

124. Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker

Author

te Vruchte, Danielle, Speak, Anneliese O., Wallom, Kerri L., Al Eisa, Nada, Smith, David A., Hendriksz, Christian J., Simmons, Louise, Lachmann, Robin H., Cousins, Alison, Hartung, Ralf, Mengel, Eugen, Runz, Heiko, Beck, Michael, Amraoui, Yasmina, Imrie, Jackie, Jacklin, Elizabeth, Riddick, Kate, Yanjanin, Nicole M., Wassif, Christopher A., Rolfs, Arndt, Rimmele, Florian, Wright, Naomi, Taylor, Clare, Ramaswami, Uma, Cox, Timothy M., Hastings, Caroline, Jiang, Xuntian, Sidhu, Rohini, Ory, Daniel S., Arias, Begona, Jeyakumar, Mylvaganam, Sillence, Daniel J., Wraith, James E., Porter, Forbes D., Cortina-Borja, Mario, and Platt, Frances M.

Published
2014
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126. Radiomics-Derived Brain Age Predicts Functional Outcome After Acute Ischemic Stroke

Author

Bretzner, Martin, Bonkhoff, Anna K., Schirmer, Markus D., Hong, Sungmin, Dalca, Adrian, Donahue, Kathleen, Giese, Anne-Katrin, Etherton, Mark R., Rist, Pamela M., Nardin, Marco, Regenhardt, Robert W., Leclerc, Xavier, Lopes, Renaud, Gautherot, Morgan, Wang, Clinton, Benavente, Oscar R., Cole, John W., Donatti, Amanda, Griessenauer, Christoph, Heitsch, Laura, Holmegaard, Lukas, Jood, Katarina, Jimenez-Conde, Jordi, Kittner, Steven J., Lemmens, Robin, Levi, Christopher R., McArdle, Patrick F., McDonough, Caitrin W., Meschia, James F., Phuah, Chia-Ling, Rolfs, Arndt, Ropele, Stefan, Rosand, Jonathan, Roquer, Jaume, Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Sousa, Alessandro, Stanne, Tara M., Strbian, Daniel, Tatlisumak, Turgut, Thijs, Vincent, Vagal, Achala, Wasselius, Johan, Woo, Daniel, Wu, Ona, Zand, Ramin, Worrall, Bradford B., Maguire, Jane, Lindgren, Arne G., Jern, Christina, Golland, Polina, Kuchcinski, Grégory, and Rost, Natalia S.

Published
2023
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129. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Author

Sanderson, Leslie E, primary, Lanko, Kristina, additional, Alsagob, Maysoon, additional, Almass, Rawan, additional, Al-Ahmadi, Nada, additional, Najafi, Maryam, additional, Al-Muhaizea, Mohammad A, additional, Alzaidan, Hamad, additional, AlDhalaan, Hesham, additional, Perenthaler, Elena, additional, van der Linde, Herma C, additional, Nikoncuk, Anita, additional, Kühn, Nikolas A, additional, Antony, Dinu, additional, Owaidah, Tarek Mustafa, additional, Raskin, Salmo, additional, Vieira, Luana Gabriela Dalla Rosa, additional, Mombach, Romulo, additional, Ahangari, Najmeh, additional, Silveira, Tainá Regina Damaceno, additional, Ameziane, Najim, additional, Rolfs, Arndt, additional, Alharbi, Aljohara, additional, Sabbagh, Raghda M, additional, AlAhmadi, Khalid, additional, Alawam, Bashayer, additional, Ghebeh, Hazem, additional, AlHargan, Aljouhra, additional, Albader, Anoud A, additional, Binhumaid, Faisal S, additional, Goljan, Ewa, additional, Monies, Dorota, additional, Mustafa, Osama M, additional, Aldosary, Mazhor, additional, AlBakheet, Albandary, additional, Alyounes, Banan, additional, Almutairi, Faten, additional, Al-Odaib, Ali, additional, Aksoy, Durdane Bekar, additional, Basak, A Nazli, additional, Palvadeau, Robin, additional, Trabzuni, Daniah, additional, Rosenfeld, Jill A, additional, Karimiani, Ehsan Ghayoor, additional, Meyer, Brian F, additional, Karakas, Bedri, additional, Al-Mohanna, Futwan, additional, Arold, Stefan T, additional, Colak, Dilek, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Bertoli-Avella, Aida M, additional, Schmidts, Miriam, additional, Barakat, Tahsin Stefan, additional, van Ham, Tjakko J, additional, and Kaya, Namik, additional

Published
2021
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130. Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

Author

Gläser, Anne, Hammerl, Franziska, Gräler, Markus H., Coldewey, Sina M., Völkner, Christin, Frech, Moritz J., Yang, Fan, Luo, Jiankai, Tönnies, Eric, Halbach, Oliver von Bohlen und, Brandt, Nicola, Heimes, Diana, Neßlauer, Anna-Maria, Korenke, Georg Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Rolfs, Arndt, Wree, Andreas, Witt, Martin, and Bräuer, Anja Ursula

Subjects
Adult, congenital, hereditary, and neonatal diseases and abnormalities, 1-Deoxynojirimycin, brain, Induced Pluripotent Stem Cells, S1P, Article, Niemann–Pick disease type C1, sphingosine-1-phosphate receptors, HPTLC, lcsh:Chemistry, Mice, Young Adult, Niemann-Pick C1 Protein, Sphingosine, hemic and lymphatic diseases, fibroblasts, Animals, Humans, Glycoside Hydrolase Inhibitors, lcsh:QH301-705.5, mass spectrometry, Mice, Knockout, sphingolipids, Intracellular Signaling Peptides and Proteins, nutritional and metabolic diseases, Niemann-Pick Disease, Type C, qRT-PCR, Disease Models, Animal, lcsh:Biology (General), lcsh:QD1-999, Mutation, lipids (amino acids, peptides, and proteins), Lysophospholipids, white matter
Abstract

Niemann&ndash, Pick type C1 (NPC1) is a lysosomal storage disorder, inherited as an autosomal-recessive trait. Mutations in the Npc1 gene result in malfunction of the NPC1 protein, leading to an accumulation of unesterified cholesterol and glycosphingolipids. Beside visceral symptoms like hepatosplenomegaly, severe neurological symptoms such as ataxia occur. Here, we analyzed the sphingosine-1-phosphate (S1P)/S1P receptor (S1PR) axis in different brain regions of Npc1&minus, /&minus, mice and evaluated specific effects of treatment with 2-hydroxypropyl-&beta, cyclodextrin (HP&beta, CD) together with the iminosugar miglustat. Using high-performance thin-layer chromatography (HPTLC), mass spectrometry, quantitative real-time PCR (qRT-PCR) and western blot analyses, we studied lipid metabolism in an NPC1 mouse model and human skin fibroblasts. Lipid analyses showed disrupted S1P metabolism in Npc1&minus, mice in all brain regions, together with distinct changes in S1pr3/S1PR3 and S1pr5/S1PR5 expression. Brains of Npc1&minus, mice showed only weak treatment effects. However, side effects of the treatment were observed in Npc1+/+ mice. The S1P/S1PR axis seems to be involved in NPC1 pathology, showing only weak treatment effects in mouse brain. S1pr expression appears to be affected in human fibroblasts, induced pluripotent stem cells (iPSCs)-derived neural progenitor and neuronal differentiated cells. Nevertheless, treatment-induced side effects make examination of further treatment strategies indispensable.

Published
2020

131. Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease

Author

Petters, Janine, Cimmaruta, Chiara, Lukas, Jan, Iwanov, Katharina, Chang, Matthew L, Völkner, Christin, Knuebel, Gudrun, Murua Escobar, Hugo, Frech, Moritz J, Hermann, Andreas, and Rolfs, Arndt

Subjects
metabolism [Induced Pluripotent Stem Cells], Adult, genetics [Hepatolenticular Degeneration], Hepatolenticular Degeneration, lcsh:Biology (General), ddc:570, Induced Pluripotent Stem Cells, Humans, Female, lcsh:QH301-705.5
Abstract

Wilson disease (WD) is an inherited, autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. Pathogenic single nucleotide variants (SNVs) lead to functional impairment of the copper transporting ATPase ATP7B, resulting in copper accumulation and toxicity in the liver and brain. We describe the generation of two induced pluripotent stem cell (iPSC) lines derived from fibroblasts of two female WD patients. Patient 1 is compound heterozygous for p.E1064A and p.H1069Q. Patient 2 is homozygous for p.M769V. These iPSCs represent a WD model for pathophysiological studies and pharmacological screening.

Published
2020

132. Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

Author

Lukas, Jan, Cimmaruta, Chiara, Rolfs, Arndt, Liguori, Ludovica, Pantoom, Supansa, Iwanov, Katharina, Petters, Janine, Hund, Christina, Bunschkowski, Maik, Hermann, Andreas, and Cubellis, Maria Vittoria

Subjects
drug therapy [Fabry Disease], metabolism [alpha-Galactosidase], 1-Deoxynojirimycin, Lysosomal storage disorders, Article, lcsh:Chemistry, pharmacological chaperones, genetics [alpha-Galactosidase], Humans, Precision Medicine, metabolism [Fabry Disease], lcsh:QH301-705.5, method comparison study, Retrospective Studies, genetics [Fabry Disease], therapeutic use [1-Deoxynojirimycin], Reproducibility of Results, analogs & derivatives [1-Deoxynojirimycin], personalized medicine, HEK293 Cells, Amino Acid Substitution, lcsh:Biology (General), lcsh:QD1-999, alpha-Galactosidase, ddc:540, Fabry Disease, Biological Assay
Abstract

Fabry disease is one of the most common lysosomal storage disorders caused by mutations in the gene encoding lysosomal &alpha, galactosidase A (&alpha, Gal A) and resultant accumulation of glycosphingolipids. The sugar mimetic 1-deoxygalactonojirimycin (DGJ), an orally available pharmacological chaperone, was clinically approved as an alternative to intravenous enzyme replacement therapy. The decision as to whether a patient should be treated with DGJ depends on the genetic variant within the &alpha, galactosidase A encoding gene (GLA). A good laboratory practice (GLP)-validated cell culture-based assay to investigate the biochemical responsiveness of the variants is currently the only source available to obtain pivotal information about susceptibility to treatment. Herein, variants were defined amenable when an absolute increase in enzyme activity of &ge, 3% of wild type enzyme activity and a relative increase in enzyme activity of &ge, 1.2-fold was achieved following DGJ treatment. Efficacy testing was carried out for over 1000 identified GLA variants in cell culture. Recent data suggest that about one-third of the variants comply with the amenability criteria. A recent study highlighted the impact of inter-assay variability on DGJ amenability, thereby reducing the power of the assay to predict eligible patients. This prompted us to compare our own &alpha, galactosidase A enzyme activity data in a very similar in-house developed assay with those from the GLP assay. In an essentially retrospective approach, we reviewed 148 GLA gene variants from our former studies for which enzyme data from the GLP study were available and added novel data for 30 variants. We also present data for 18 GLA gene variants for which no data from the GLP assay are currently available. We found that both differences in experimental biochemical data and the criteria for the classification of amenability cause inter-assay discrepancy. We conclude that low baseline activity, borderline biochemical responsiveness, and inter-assay discrepancy are alarm signals for misclassifying a variant that must not be ignored. Furthermore, there is no solid basis for setting a minimum response threshold on which a clinical indication with DGJ can be justified.

Published
2020
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133. Alteration of GABAergic Input Precedes Neurodegeneration of Cerebellar Purkinje Cells of NPC1-Deficient Mice

Author

Rabenstein, Michael, Murr, Nico, Hermann, Andreas, Rolfs, Arndt, and Frech, Moritz J.

Subjects
Mice, Knockout, congenital, hereditary, and neonatal diseases and abnormalities, Mice, Inbred BALB C, AMPA-receptor, Intracellular Signaling Peptides and Proteins, nutritional and metabolic diseases, Neurodegenerative Diseases, Niemann-Pick Disease, Type C, patch clamp, Article, nervous system diseases, NPC1, Mice, Purkinje Cells, inhibitory synaptic transmission, Niemann-Pick C1 Protein, hemic and lymphatic diseases, Synapses, Animals, GABAergic Neurons
Abstract

Niemann-Pick Disease Type C1 (NPC1) is a rare hereditary neurodegenerative disease belonging to the family of lysosomal storage disorders. NPC1-patients suffer from, amongst other symptoms, ataxia, based on the dysfunction and loss of cerebellar Purkinje cells. Alterations in synaptic transmission are believed to contribute to a pathological mechanism leading to the progressive loss of Purkinje cells observed in NPC1-deficient mice. With regard to inhibitory synaptic transmission, alterations of GABAergic synapses are described but functional data are missing. For this reason, we have examined here the inhibitory GABAergic synaptic transmission of Purkinje cells of NPC1-deficient mice (NPC1&minus, /&minus, ). Patch clamp recordings of inhibitory post-synaptic currents (IPSCs) of Purkinje cells revealed an increased frequency of GABAergic IPSCs in NPC1&minus, mice. In addition, Purkinje cells of NPC1&minus, mice were less amenable for modulation of synaptic transmission via the activation of excitatory NMDA-receptors (NMDA-Rs). Western blot testing disclosed a reduced protein level of phosphorylated alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPA-Rs) subunit GluA2 in the cerebella of NPC1&minus, mice, indicating a disturbance in the internalization of GluA2-containing AMPA-Rs. Since this is triggered by the activation of NMDA-Rs, we conclude that a disturbance in the synaptic turnover of AMPA-Rs underlies the defective inhibitory GABAergic synaptic transmission. While these alterations precede obvious signs of neurodegeneration of Purkinje cells, we propose a contribution of synaptic malfunction to the initiation of the loss of Purkinje cells in NPC1. Thus, a prevention of the disturbance of synaptic transmission in early stages of the disease might display a target with which to avert progressive neurodegeneration in NPC1.

Published
2019

136. LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

Author

Beetz, Christian, primary, Westenberger, Ana, additional, Al‐Ali, Ruslan, additional, Ameziane, Najim, additional, Alhashmi, Nadia, additional, Boustany, Rose‐Mary, additional, Al Mutairi, Fuad, additional, Alfadhel, Majid, additional, Al‐Hassnan, Zuhair, additional, AlSayed, Moenaldeen, additional, Kandaswamy, Krishna K., additional, Paknia, Omid, additional, Skrahina, Volha, additional, Rolfs, Arndt, additional, and Bauer, Peter, additional

Published
2021
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137. Radiomic Signature of White Matter Hyperintensities Is Associated With Clinical Phenotypes

Author

Bretzner, Martin, primary, Bonkhoff, Anna K., additional, Schirmer, Markus D., additional, Hong, Sungmin, additional, Dalca, Adrian V., additional, Donahue, Kathleen L., additional, Giese, Anne-Katrin, additional, Etherton, Mark R., additional, Nardin, Marco, additional, Marinescu, Razvan, additional, Wang, Clinton, additional, Regenhardt, Robert W., additional, Leclerc, Xavier, additional, Lopes, Renaud, additional, Benavente, Oscar R., additional, Cole, John W., additional, Donatti, Amanda, additional, Griessenauer, Christoph J., additional, Heitsch, Laura, additional, Holmegaard, Lukas, additional, Jood, Katarina, additional, Jimenez-Conde, Jordi, additional, Kittner, Steven J., additional, Lemmens, Robin, additional, Levi, Christopher R., additional, McArdle, Patrick D., additional, McDonough, Caitrin W., additional, Meschia, James F., additional, Phuah, Chia-Ling, additional, Rolfs, Arndt, additional, Ropele, Stefan, additional, Rosand, Jonathan, additional, Roquer, Jaume, additional, Rundek, Tatjana, additional, Sacco, Ralph L., additional, Schmidt, Reinhold, additional, Sharma, Pankaj, additional, Slowik, Agnieszka, additional, Sousa, Alessandro, additional, Stanne, Tara M., additional, Strebian, Daniel, additional, Tatlisumak, Turgut, additional, Thijs, Vincent, additional, Vagal, Achala, additional, Wasselius, Johan, additional, Woo, Daniel, additional, Wu, Ona, additional, Zand, Ramin, additional, Worrall, Bradford B., additional, Maguire, Jane, additional, Lindgren, Arne, additional, Jern, Christina, additional, Golland, Polina, additional, Kuchcinski, Grégory, additional, Rost, Natalia S., additional, Investigators, MRI-GENIE and GISCOME, additional, and Consortium, International Stroke Genetics, additional

Published
2021
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138. Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

Author

Skrahina, Volha, primary, Grittner, Ulrike, additional, Beetz, Christian, additional, Skripuletz, Thomas, additional, Juenemann, Martin, additional, Krämer, Heidrun H., additional, Hahn, Katrin, additional, Rieth, Andreas, additional, Schaechinger, Volker, additional, Patten, Monica, additional, Tanislav, Christian, additional, Achenbach, Stephan, additional, Assmus, Birgit, additional, Knebel, Fabian, additional, Gingele, Stefan, additional, Skrahin, Aliaksandr, additional, Hartkamp, Jörg, additional, Förster, Toni M., additional, Roesner, Sabine, additional, Pereira, Catarina, additional, and Rolfs, Arndt, additional

Published
2021
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141. Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage

Author

Linthorst, Gabor E., primary, Burlina, Alessandro P., additional, Cecchi, Franco, additional, Cox, Timothy M., additional, Fletcher, Janice M., additional, Feldt-Rasmussen, Ulla, additional, Giugliani, Roberto, additional, Hollak, Carla E. M., additional, Houge, Gunnar, additional, Hughes, Derralynn, additional, Kantola, Iikka, additional, Lachmann, Robin, additional, Lopez, Monica, additional, Ortiz, Alberto, additional, Parini, Rossella, additional, Rivera, Alberto, additional, Rolfs, Arndt, additional, Ramaswami, Uma, additional, Svarstad, Einar, additional, Tondel, Camilla, additional, Tylki-Szymanska, Anna, additional, Vujkovac, Bojan, additional, Waldek, Steven, additional, West, Michael, additional, Weidemann, F., additional, and Mehta, Atul, additional

Published
2012
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143. Mutation Spectrum in RAB3 GAP1, RAB3 GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Author

Handley, Mark T., Morris-Rosendahl, Deborah J., Brown, Stephen, Macdonald, Fiona, Hardy, Carol, Bem, Danai, Carpanini, Sarah M., Borck, Guntram, Martorell, Loreto, Izzi, Claudia, Faravelli, Francesca, Accorsi, Patrizia, Pinelli, Lorenzo, Basel-Vanagaite, Lina, Peretz, Gabriela, Abdel-Salam, Ghada M.H., Zaki, Maha S., Jansen, Anna, Mowat, David, Glass, Ian, Stewart, Helen, Mancini, Grazia, Lederer, Damien, Roscioli, Tony, Giuliano, Fabienne, Plomp, Astrid S., Rolfs, Arndt, Graham, John M., Seemanova, Eva, Poo, Pilar, García-Cazorla, Àngels, Edery, Patrick, Jackson, Ian J., Maher, Eamonn R., and Aligianis, Irene A.

Published
2013
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147. Acute Cerebrovascular Disease in the Young: The Stroke in Young Fabry Patients Study

Author

Rolfs, Arndt, Fazekas, Franz, Grittner, Ulrike, Dichgans, Martin, Martus, Peter, Holzhausen, Martin, Böttcher, Tobias, Heuschmann, Peter U., Tatlisumak, Turgut, Tanislav, Christian, Jungehulsing, Gerhard J., Giese, Anne-Katrin, Putaala, Jukaa, Huber, Roman, Bodechtel, Ulf, Lichy, Christoph, Enzinger, Christian, Schmidt, Reinhold, Hennerici, Michael G., Kaps, Manfred, Kessler, Christof, Lackner, Karl, Paschke, Eduard, Meyer, Wolfgang, Mascher, Hermann, Riess, Olaf, Kolodny, Edwin, Norrving, Bo, Rolfs, A, Ginsberg, M, Hennerici, MG, Kessler, C, Kolodny, E, Martus, P, Norrving, B, Ringelstein, EB, Rothwell, PM, Venables, G, Bornstein, N, deDeyn, P, Dichgans, M, Fazekas, F, Markus, H, Rie, O, Biedermann, C, Böttcher, T, Brüderlein, K, Burmeister, J, Federow, I, König, F, Makowei, G, Niemann, D, Rolfs, A, Rösner, S, Zielke, S, Grittner, U, Martus, P, Holzhausen, M, Fazekas, F, Enzinger, C, Schmidt, R, Ropele, S, Windisch, M, Sterner, E, Bodamer, O, Fellgiebel, A, Hillen, U, Jonas, L, Kampmann, C, Kropp, P, Lackner, K, Laue, M, Mascher, H, Meyer, W, Paschke, E, Weidemann, F, Berrouschot, J, Stoll, A, Rokicha, A, Sternitzky, C, Thomä, M, DeDeyn, PP, Sheorajpanday, R, De Brabander, I, Yperzeele, L, Brouns, R, Oschmann, P, Pott, M, Schultes, K, Schultze, C, Hirsekorn, J, Jungehulsing, GJ, Villringer, A, Schmidt, W, Liman, T, Nowe, T, Ebinger, M, Wille, A, Loui, H, Objartel, A, übelacker, A, Mette, R, Jegzentis, K, Nabavi, DG, Crome, O, Bahr, D, Ebke, M, Platte, B, Kleinen, C, Mermolja Gunther, K, Heide, W, Pape, O, Hanssen, JR, Stangenberg, D, Klingelhofer, J, Schmidt, B, Schwarz, S, Schwarze, J, Frandlih, L, Iwanow, J, Steinbach, I, Krieger, D, Boysen, G, Leth Jeppesen, L, Petersen, A, Reichmann, H, Becker, U, Dzialkowski, I, Hentschel, H, Lautenschlager, C, Hanso, H, Gahn, G, Ziemssen, T, Fleischer, K, Sehr, B, McCabe, DJH, Tobin, O, Kinsella, J, Murphy, RP, Jander, S, Hartung, HP, Siebler, M, Bottcher, C, Kohne, A, Platzen, J, Brosig, TC, Rothhammer, V, Henseler, C, Neumann-Haefelin, T, Singer, OC, Ermis, U, dos Santos, IMRM, Schuhmann, C, van de Loo, S, Kaps, M, Allendorfer, J, Tanislav, C, Brandtner, M, Muir, K, Dani, K, MacDougall, N, Smith, W, Rowe, A, Welch, A, Fazekas, F, Schrotter, G, Krenn, U, Horner, S, Pendl, B, Pluta-Fuerst, A, Trummer, U, Kessler, C, Chatzopoulos, M, v Sarnowski, Bettina, Schminke, Ulf, Link, T, Khaw, A, Nieber, E, Zierz, S, Muller, T, Wegener, N, Wartenberg, K, Gaul, C, Richter, D, Rosenkranz, M, Krützelmann, AC, Hoppe, J, Choe, CU, Narr, S, Magnus, TU, Thomalla, G, Leypoldt, F, Otto, D, Lichy, C, Hacke, W, Barrows, RJ, Tatlisumak, T, Putaala, J, Curtze, S, Metso, M, Willeit, J, Furtner, M, Spiegel, M, Knoflach, MH, Prantl, B, Witte, OW, Brämer, D, Günther, A, Prell, T, Herzau, C, Aurich, K, Deuschl, G, Wodarg, F, Zimmermann, P, Eschenfelder, CC, Levsen, M, Weber, JR, Marecek, SM, Schneider, D, Michalski, D, Kloppig, W, Küppers-Tiedt, L, Schneider, M, Schulz, A, Matzen, P, Weise, C, Hobohm, C, Meier, H, Langos, R, Urban, D, Gerhardt, I, Thijs, V, Lemmens, R, Marcelis, E, Hulsbosch, C, Aichner, F, Haring, HP, Bach, E, Machado Candido, J, e Silva, AA, Lourenco, M, de Sousa, AIM, Derex, L, Cho, TH, Díez-Tejedor, E, Fuentes, B, Martínez-Sanchez, P, Pérez-Guevara, MI, Hamer, H, Metz, A, Hallenberger, K, Müller, P, Baron, P, Bersano, A, Gattinoni, M, Vella, N, Mallia, M, Jauss, M, Adam, L, Heidler, F, Gube, C, Kiszka, M, Dichgans, M, Karpinska, A, Mewald, Y, Straub, V, Dörr, A, Zollver, A, Ringelstein, EB, Schilling, M, Borchert, A, Preuth, N, Duning, T, Kuhlenbäumer, G, Schulte, D, Rothwell, PM, Marquardt, L, Schlachetzki, F, Boy, S, Mädl, J, Ertl, GM, Fehm, NPR, Stadler, C, Benecke, R, Dudesek, A, Kolbaske, S, Lardurner, G, Sulzer, C, Zerbs, A, Lilek, S, Walleczek, AM, Sinadinowska, D, Janelidze, M, Beridze, M, Lobjanidze, N, Dzagnidze, A, Melms, A, Horber, K, Fink, I, Liske, B, Ludolph, AC, Huber, R, Knauer, K, Hendrich, C, Raubold, S, Czlonkowska, A, Baranowska, A, Blazejewska-Hyzorek, B, Lang, W, Kristoferitsch, W, Ferrari, J, Ulrich, E, Flamm-Horak, A, Lischka-Lindner, A, Schreiber, W, Demarin, V, Tranjec, Z, Bosner-Puretic, M, Jurašić, MJ, Basic Kes, V, Budisic, M, and Kopacevic, L

Published
2013
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148. Lifestyle Risk Factors for Ischemic Stroke and Transient Ischemic Attack in Young Adults in the Stroke in Young Fabry Patients Study

Author

von Sarnowski, Bettina, Putaala, Jukka, Grittner, Ulrike, Gaertner, Beate, Schminke, Ulf, Curtze, Sami, Huber, Roman, Tanislav, Christian, Lichy, Christoph, Demarin, Vida, Basic-Kes, Vanja, Ringelstein, E. Bernd, Neumann-Haefelin, Tobias, Enzinger, Christian, Fazekas, Franz, Rothwell, Peter M., Dichgans, Martin, Jungehulsing, Gerhard J., Heuschmann, Peter U., Kaps, Manfred, Norrving, Bo, Rolfs, Arndt, Kessler, Christof, and Tatlisumak, Turgut

Published
2013
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