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Eine Ebene nach oben |
Gruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 16
2023
Bakker, Mark K. 
ORCID: https://orcid.org/0000-0002-7887-9014; Kanning, Jos P.; Abraham, Gad ORCID: https://orcid.org/0000-0003-4853-0118; Martinsen, Amy E. ORCID: https://orcid.org/0000-0002-9051-9898; Winsvold, Bendik S. ORCID: https://orcid.org/0000-0003-4171-8919; Zwart, John-Anker ORCID: https://orcid.org/0000-0001-5721-0154; Bourcier, Romain ORCID: https://orcid.org/0000-0002-6506-4019; Sawada, Tomonobu; Koido, Masaru ORCID: https://orcid.org/0000-0002-0348-0666; Kamatani, Yoichiro; Morel, Sandrine ORCID: https://orcid.org/0000-0003-1538-3553; Amouyel, Philippe ORCID: https://orcid.org/0000-0001-9088-234X; Debette, Stéphanie ORCID: https://orcid.org/0000-0001-8675-7968; Bijlenga, Philippe; Berrandou, Takiy ORCID: https://orcid.org/0000-0002-0525-3002; Ganesh, Santhi K. ORCID: https://orcid.org/0000-0002-3663-5249; Bouatia-Naji, Nabila ORCID: https://orcid.org/0000-0001-5424-2134; Jones, Gregory ORCID: https://orcid.org/0000-0002-6950-4210; Bown, Matthew ORCID: https://orcid.org/0000-0002-6180-3611; Rinkel, Gabriel J.E.; Veldink, Jan H. ORCID: https://orcid.org/0000-0001-5572-9657; Ruigrok, Ynte M. ORCID: https://orcid.org/0000-0002-5396-2989; Hege Aamodt, Anne; Heidi Skogholt, Anne; Brumpton, Ben M; Willer, Cristen J; Sandset, Else C; Kristoffersen, Espen S; Ellekjær, Hanne; Heuch, Ingrid; Nielsen, Jonas B; Hagen, Knut; Hveem, Kristian; Fritsche, Lars G; Thomas, Laurent F; Pedersen, Linda M; Gabrielsen, Maiken E; Holmen, Oddgeir L; Børte, Sigrid; Zhou, Wei; Abboud, Shérine; Pandolfo, Massimo; Thijs, Vincent; Leys, Didier; Bodenant, Marie; Louillet, Fabien; Touzé, Emmanuel; Mas, Jean-Louis; Samson, Yves; Leder, Sara; Léger, Anne; Deltour, Sandrine; Crozier, Sophie; Méresse, Isabelle; Canaple, Sandrine; Godefroy, Olivier; Giroud, Maurice; Béjot, Yannick; Decavel, Pierre; Medeiros, Elizabeth; Montiel, Paola; Moulin, Thierry; Vuillier, Fabrice; Dallongeville, Jean; Metso, Antti J; Metso, Tiina; Tatlisumak, Turgut; Grond-Ginsbach, Caspar; Lichy, Christoph; Kloss, Manja; Werner, Inge; Arnold, Marie-Luise; Dos Santos, Michael; Grau, Armin; Dichgans, Martin ORCID: https://orcid.org/0000-0002-0654-387X; Thomas-Feles, Constanze; Weber, Ralf; Brandt, Tobias; Pezzini, Alessandro; De Giuli, Valeria; Caria, Filomena; Poli, Loris; Padovani, Alessandro; Bersano, Anna; Lanfranconi, Silvia; Beretta, Simone; Ferrarese, Carlo; Giacolone, Giacomo; Paolucci, Stefano; Lyrer, Philippe; Engelter, Stefan; Fluri, Felix; Hatz, Florian; Gisler, Dominique; Bonati, Leo; Gensicke, Henrik; Amort, Margareth; Markus, Hugh; Majersik, Jennifer; Worrall, Bradford; Southerland, Andrew; Cole, John; Kittner, Steven; Evangelou, Evangelos; Warren, Helen R; Gao, He; Ntritsos, Georgios; Dimou, Niki; Esko, Tonu; Mägi, Reedik; Milani, Lili; Almgren, Peter; Boutin, Thibaud; Ding, Jun; Giulianini, Franco; Holliday, Elizabeth G; Jackson, Anne U; Li-Gao, Ruifang; Lin, Wei-Yu; Luan, Jian’an; Mangino, Massimo; Oldmeadow, Christopher; Peter Prins, Bram; Qian, Yong; Sargurupremraj, Muralidharan; Shah, Nabi; Surendran, Praveen; Thériault, Sébastien; Verweij, Niek; Willems, Sara M; Zhao, Jing-Hua; Connell, John; de Mutsert, Renée; Doney, Alex SF; Farrall, Martin; Menni, Cristina; Morris, Andrew D; Noordam, Raymond; Paré, Guillaume; Poulter, Neil R; Shields, Denis C; Stanton, Alice; Thom, Simon; Abecasis, Gonçalo; Amin, Najaf; Arking, Dan E; Ayers, Kristin L; Barbieri, Caterina M; Batini, Chiara; Bis, Joshua C; Blake, Tineka; Bochud, Murielle; Boehnke, Michael; Boerwinkle, Eric; Boomsma, Dorret I; Bottinger, Erwin P; Braund, Peter S; Brumat, Marco; Campbell, Archie; Campbell, Harry; Chakravarti, Aravinda; Chambers, John C; Chauhan, Ganesh; Ciullo, Marina; Cocca, Massimiliano; Collins, Francis; Cordell, Heather J; Davies, Gail; de Borst, Martin H; de Geus, Eco J; Deary, Ian J; Deelen, Joris; Del Greco M, Fabiola; Yusuf Demirkale, Cumhur; Dörr, Marcus; Ehret, Georg B; Elosua, Roberto; Enroth, Stefan; Mesut Erzurumluoglu, A; Ferreira, Teresa; Frånberg, Mattias; Franco, Oscar H; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Gieger, Christian; Girotto, Giorgia; Goel, Anuj; Gow, Alan J; Gudnason, Vilmundur; Guo, Xiuqing; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B; Harris, Sarah E; Hartman, Catharina A; Havulinna, Aki S; Hicks, Andrew A; Hofer, Edith; Hofman, Albert; Hottenga, Jouke-Jan; Huffman, Jennifer E; Hwang, Shih-Jen; Ingelsson, Erik; James, Alan; Jansen, Rick; Jarvelin, Marjo-Riitta; Joehanes, Roby; Johansson, Åsa; Johnson, Andrew D; Joshi, Peter K; Jousilahti, Pekka; Wouter Jukema, J; Jula, Antti; Kähönen, Mika; Kathiresan, Sekar; Keavney, Bernard D; Khaw, Kay-Tee; Knekt, Paul; Knight, Joanne; Kolcic, Ivana; Kooner, Jaspal S; Koskinen, Seppo; Kristiansson, Kati; Kutalik, Zoltan; Laan, Maris; Larson, Marty; Launer, Lenore J; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David CM; Lin, Li; Lind, Lars; Lindgren, Cecilia M; Liu, YongMei; Loos, Ruth JF; Lopez, Lorna M; Lu, Yingchang; Lyytikäinen, Leo-Pekka; Mahajan, Anubha; Mamasoula, Chrysovalanto; Marrugat, Jaume; Marten, Jonathan; Milaneschi, Yuri; Morgan, Anna; Morris, Andrew P; Morrison, Alanna C; Munson, Peter J; Nalls, Mike A; Nandakumar, Priyanka; Nelson, Christopher P; Niiranen, Teemu; Nolte, Ilja M; Nutile, Teresa; Oldehinkel, Albertine J; Oostra, Ben A; O’Reilly, Paul F; Org, Elin; Padmanabhan, Sandosh; Palmas, Walter; Palotie, Aarno; Pattie, Alison; WJH Penninx, Brenda; Perola, Markus; Peters, Annette; Polasek, Ozren; Pramstaller, Peter P; Tri Nguyen, Quang; Raitakari, Olli T; Rettig, Rainer; Rice, Kenneth; Ridker, Paul M; Ried, Janina S; Riese, Harriëtte; Ripatti, Samuli; Robino, Antonietta; Rose, Lynda M; Rotter, Jerome I; Rudan, Igor; Ruggiero, Daniela; Saba, Yasaman; Sala, Cinzia F; Salomaa, Veikko; Samani, Nilesh J; Sarin, Antti-Pekka; Schmidt, Reinhold; Schmidt, Helena; Shrine, Nick; Siscovick, David; Smith, Albert V; Snieder, Harold; Sõber, Siim; Sorice, Rossella; Starr, John M; Stott, David J; Strachan, David P; Strawbridge, Rona J; Sundström, Johan; Swertz, Morris A; Taylor, Kent D; Teumer, Alexander; Tobin, Martin D; Tomaszewski, Maciej; Toniolo, Daniela; Traglia, Michela; Trompet, Stella; Tuomilehto, Jaakko; Tzourio, Christophe; Uitterlinden, André G; Vaez, Ahmad; van der Most, Peter J; van Duijn, Cornelia M; Verwoert, Germaine C; Vitart, Veronique; Völker, Uwe; Vollenweider, Peter; Vuckovic, Dragana; Watkins, Hugh; Wild, Sarah H; Willemsen, Gonneke; Wilson, James F; Wright, Alan F; Yao, Jie; Zemunik, Tatijana; Zhang, Weihua; Attia, John R; Butterworth, Adam S; Chasman, Daniel I; Conen, David; Cucca, Francesco; Danesh, John; Hayward, Caroline; Howson, Joanna MM; Laakso, Markku; Lakatta, Edward G; Langenberg, Claudia; Melander, Olle; Mook-Kanamori, Dennis O; Palmer, Colin NA; Risch, Lorenz; Scott, Robert A; Scott, Rodney J; Sever, Peter; Spector, Tim D; van der Harst, Pim; Wareham, Nicholas J; Zeggini, Eleftheria; Levy, Daniel; Munroe, Patricia B; Newton-Cheh, Christopher; Brown, Morris J; Metspalu, Andres; Psaty, Bruce M.; Wain, Louise V; Elliott, Paul; Caulfield, Mark J; Gormley, Padhraig; Anttila, Verneri; Palta, Priit; Esko, Tonu; Pers, Tune H; Farh, Kai-How; Cuenca-Leon, Ester; Muona, Mikko; Furlotte, Nicholas A; Kurth, Tobias; Ingason, Andres; McMahon, George; Ligthart, Lannie; Terwindt, Gisela M; Kallela, Mikko; Freilinger, Tobias M; Ran, Caroline; Gordon, Scott G; Stam, Anine H; Steinberg, Stacy; Borck, Guntram; Koiranen, Markku; Quaye, Lydia; Adams, Hieab H H; Lehtimäki, Terho; Sarin, Antti-Pekka; Wedenoja, Juho; Hinds, David A; Buring, Julie E; Schürks, Markus; Ridker, Paul M; Gudlaug Hrafnsdottir, Maria; Stefansson, Hreinn; Ring, Susan M; Hottenga, Jouke-Jan; Penninx, Brenda W J H; Färkkilä, Markus; Artto, Ville; Kaunisto, Mari; Vepsäläinen, Salli; Malik, Rainer; Heath, Andrew C; Madden, Pamela A F; Martin, Nicholas G; Montgomery, Grant W; Kurki, Mitja I; Kals, Mart; Mägi, Reedik; Pärn, Kalle; Hämäläinen, Eija; Huang, Hailiang; Byrnes, Andrea E; Franke, Lude; Huang, Jie; Stergiakouli, Evie; Lee, Phil H; Sandor, Cynthia; Webber, Caleb; Cader, Zameel; Muller-Myhsok, Bertram; Schreiber, Stefan; Meitinger, Thomas; Eriksson, Johan G; Salomaa, Veikko; Heikkilä, Kauko; Loehrer, Elizabeth; Uitterlinden, Andre G; Hofman, Albert; van Duijn, Cornelia M; Cherkas, Lynn; Pedersen, Linda M; Stubhaug, Audun; Nielsen, Christopher S; Männikkö, Minna; Mihailov, Evelin; Milani, Lili; Göbel, Hartmut; Esserlind, Ann-Louise; Francke Christensen, Anne; Folkmann Hansen, Thomas; Werge, Thomas; Kaprio, Jaakko; Aromaa, Arpo J; Raitakari, Olli; Arfan Ikram, M; Spector, Tim; Järvelin, Marjo-Riitta; Metspalu, Andres; Kubisch, Christian; Strachan, David P; Ferrari, Michel D; Belin, Andrea C; Dichgans, Martin; Wessman, Maija; van den Maagdenberg, Arn M J M; Boomsma, Dorret I; Davey Smith, George; Stefansson, Kari; Eriksson, Nicholas; Daly, Mark J; Neale, Benjamin M; Olesen, Jes; Chasman, Daniel I; Nyholt, Dale R; Palotie, Aarno; Akiyama, Masato; Alg, Varinder S.; Børte, Sigrid; Broderick, Joseph P.; Brumpton, Ben M.; Dauvillier, Jérôme; Desal, Hubert; Dina, Christian; Friedrich, Christoph M.; Gaál-Paavola, Emília I.; Gentric, Jean-Christophe; Hirsch, Sven; Hostettler, Isabel C.; Houlden, Henry; Hveem, Kristian; Jääskeläinen, Juha E.; Johnsen, Marianne Bakke; Li, Liming; Lin, Kuang; Lindgren, Antti; Martin, Olivier; Matsuda, Koichi; Millwood, Iona Y.; Naggara, Olivier; Niemelä, Mika; Pera, Joanna; Redon, Richard; Rouleau, Guy A.; Sandvei, Marie Søfteland; Schilling, Sabine; Shotar, Eimad; Slowik, Agnieszka; Terao, Chikashi; Verschuren, W. M. Monique; Walters, Robin G.; Werring, David J.; Willer, Cristen J.; Woo, Daniel; Worrall, Bradford B. und Zhou, Sirui
(2023):
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity.
In: Stroke, Bd. 54, Nr. 3: S. 810-818
[PDF, 979kB]
ORCID: https://orcid.org/0000-0002-7887-9014; Kanning, Jos P.; Abraham, Gad ORCID: https://orcid.org/0000-0003-4853-0118; Martinsen, Amy E. ORCID: https://orcid.org/0000-0002-9051-9898; Winsvold, Bendik S. ORCID: https://orcid.org/0000-0003-4171-8919; Zwart, John-Anker ORCID: https://orcid.org/0000-0001-5721-0154; Bourcier, Romain ORCID: https://orcid.org/0000-0002-6506-4019; Sawada, Tomonobu; Koido, Masaru ORCID: https://orcid.org/0000-0002-0348-0666; Kamatani, Yoichiro; Morel, Sandrine ORCID: https://orcid.org/0000-0003-1538-3553; Amouyel, Philippe ORCID: https://orcid.org/0000-0001-9088-234X; Debette, Stéphanie ORCID: https://orcid.org/0000-0001-8675-7968; Bijlenga, Philippe; Berrandou, Takiy ORCID: https://orcid.org/0000-0002-0525-3002; Ganesh, Santhi K. ORCID: https://orcid.org/0000-0002-3663-5249; Bouatia-Naji, Nabila ORCID: https://orcid.org/0000-0001-5424-2134; Jones, Gregory ORCID: https://orcid.org/0000-0002-6950-4210; Bown, Matthew ORCID: https://orcid.org/0000-0002-6180-3611; Rinkel, Gabriel J.E.; Veldink, Jan H. ORCID: https://orcid.org/0000-0001-5572-9657; Ruigrok, Ynte M. ORCID: https://orcid.org/0000-0002-5396-2989; Hege Aamodt, Anne; Heidi Skogholt, Anne; Brumpton, Ben M; Willer, Cristen J; Sandset, Else C; Kristoffersen, Espen S; Ellekjær, Hanne; Heuch, Ingrid; Nielsen, Jonas B; Hagen, Knut; Hveem, Kristian; Fritsche, Lars G; Thomas, Laurent F; Pedersen, Linda M; Gabrielsen, Maiken E; Holmen, Oddgeir L; Børte, Sigrid; Zhou, Wei; Abboud, Shérine; Pandolfo, Massimo; Thijs, Vincent; Leys, Didier; Bodenant, Marie; Louillet, Fabien; Touzé, Emmanuel; Mas, Jean-Louis; Samson, Yves; Leder, Sara; Léger, Anne; Deltour, Sandrine; Crozier, Sophie; Méresse, Isabelle; Canaple, Sandrine; Godefroy, Olivier; Giroud, Maurice; Béjot, Yannick; Decavel, Pierre; Medeiros, Elizabeth; Montiel, Paola; Moulin, Thierry; Vuillier, Fabrice; Dallongeville, Jean; Metso, Antti J; Metso, Tiina; Tatlisumak, Turgut; Grond-Ginsbach, Caspar; Lichy, Christoph; Kloss, Manja; Werner, Inge; Arnold, Marie-Luise; Dos Santos, Michael; Grau, Armin; Dichgans, Martin ORCID: https://orcid.org/0000-0002-0654-387X; Thomas-Feles, Constanze; Weber, Ralf; Brandt, Tobias; Pezzini, Alessandro; De Giuli, Valeria; Caria, Filomena; Poli, Loris; Padovani, Alessandro; Bersano, Anna; Lanfranconi, Silvia; Beretta, Simone; Ferrarese, Carlo; Giacolone, Giacomo; Paolucci, Stefano; Lyrer, Philippe; Engelter, Stefan; Fluri, Felix; Hatz, Florian; Gisler, Dominique; Bonati, Leo; Gensicke, Henrik; Amort, Margareth; Markus, Hugh; Majersik, Jennifer; Worrall, Bradford; Southerland, Andrew; Cole, John; Kittner, Steven; Evangelou, Evangelos; Warren, Helen R; Gao, He; Ntritsos, Georgios; Dimou, Niki; Esko, Tonu; Mägi, Reedik; Milani, Lili; Almgren, Peter; Boutin, Thibaud; Ding, Jun; Giulianini, Franco; Holliday, Elizabeth G; Jackson, Anne U; Li-Gao, Ruifang; Lin, Wei-Yu; Luan, Jian’an; Mangino, Massimo; Oldmeadow, Christopher; Peter Prins, Bram; Qian, Yong; Sargurupremraj, Muralidharan; Shah, Nabi; Surendran, Praveen; Thériault, Sébastien; Verweij, Niek; Willems, Sara M; Zhao, Jing-Hua; Connell, John; de Mutsert, Renée; Doney, Alex SF; Farrall, Martin; Menni, Cristina; Morris, Andrew D; Noordam, Raymond; Paré, Guillaume; Poulter, Neil R; Shields, Denis C; Stanton, Alice; Thom, Simon; Abecasis, Gonçalo; Amin, Najaf; Arking, Dan E; Ayers, Kristin L; Barbieri, Caterina M; Batini, Chiara; Bis, Joshua C; Blake, Tineka; Bochud, Murielle; Boehnke, Michael; Boerwinkle, Eric; Boomsma, Dorret I; Bottinger, Erwin P; Braund, Peter S; Brumat, Marco; Campbell, Archie; Campbell, Harry; Chakravarti, Aravinda; Chambers, John C; Chauhan, Ganesh; Ciullo, Marina; Cocca, Massimiliano; Collins, Francis; Cordell, Heather J; Davies, Gail; de Borst, Martin H; de Geus, Eco J; Deary, Ian J; Deelen, Joris; Del Greco M, Fabiola; Yusuf Demirkale, Cumhur; Dörr, Marcus; Ehret, Georg B; Elosua, Roberto; Enroth, Stefan; Mesut Erzurumluoglu, A; Ferreira, Teresa; Frånberg, Mattias; Franco, Oscar H; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Gieger, Christian; Girotto, Giorgia; Goel, Anuj; Gow, Alan J; Gudnason, Vilmundur; Guo, Xiuqing; Gyllensten, Ulf; Hamsten, Anders; Harris, Tamara B; Harris, Sarah E; Hartman, Catharina A; Havulinna, Aki S; Hicks, Andrew A; Hofer, Edith; Hofman, Albert; Hottenga, Jouke-Jan; Huffman, Jennifer E; Hwang, Shih-Jen; Ingelsson, Erik; James, Alan; Jansen, Rick; Jarvelin, Marjo-Riitta; Joehanes, Roby; Johansson, Åsa; Johnson, Andrew D; Joshi, Peter K; Jousilahti, Pekka; Wouter Jukema, J; Jula, Antti; Kähönen, Mika; Kathiresan, Sekar; Keavney, Bernard D; Khaw, Kay-Tee; Knekt, Paul; Knight, Joanne; Kolcic, Ivana; Kooner, Jaspal S; Koskinen, Seppo; Kristiansson, Kati; Kutalik, Zoltan; Laan, Maris; Larson, Marty; Launer, Lenore J; Lehne, Benjamin; Lehtimäki, Terho; Liewald, David CM; Lin, Li; Lind, Lars; Lindgren, Cecilia M; Liu, YongMei; Loos, Ruth JF; Lopez, Lorna M; Lu, Yingchang; Lyytikäinen, Leo-Pekka; Mahajan, Anubha; Mamasoula, Chrysovalanto; Marrugat, Jaume; Marten, Jonathan; Milaneschi, Yuri; Morgan, Anna; Morris, Andrew P; Morrison, Alanna C; Munson, Peter J; Nalls, Mike A; Nandakumar, Priyanka; Nelson, Christopher P; Niiranen, Teemu; Nolte, Ilja M; Nutile, Teresa; Oldehinkel, Albertine J; Oostra, Ben A; O’Reilly, Paul F; Org, Elin; Padmanabhan, Sandosh; Palmas, Walter; Palotie, Aarno; Pattie, Alison; WJH Penninx, Brenda; Perola, Markus; Peters, Annette; Polasek, Ozren; Pramstaller, Peter P; Tri Nguyen, Quang; Raitakari, Olli T; Rettig, Rainer; Rice, Kenneth; Ridker, Paul M; Ried, Janina S; Riese, Harriëtte; Ripatti, Samuli; Robino, Antonietta; Rose, Lynda M; Rotter, Jerome I; Rudan, Igor; Ruggiero, Daniela; Saba, Yasaman; Sala, Cinzia F; Salomaa, Veikko; Samani, Nilesh J; Sarin, Antti-Pekka; Schmidt, Reinhold; Schmidt, Helena; Shrine, Nick; Siscovick, David; Smith, Albert V; Snieder, Harold; Sõber, Siim; Sorice, Rossella; Starr, John M; Stott, David J; Strachan, David P; Strawbridge, Rona J; Sundström, Johan; Swertz, Morris A; Taylor, Kent D; Teumer, Alexander; Tobin, Martin D; Tomaszewski, Maciej; Toniolo, Daniela; Traglia, Michela; Trompet, Stella; Tuomilehto, Jaakko; Tzourio, Christophe; Uitterlinden, André G; Vaez, Ahmad; van der Most, Peter J; van Duijn, Cornelia M; Verwoert, Germaine C; Vitart, Veronique; Völker, Uwe; Vollenweider, Peter; Vuckovic, Dragana; Watkins, Hugh; Wild, Sarah H; Willemsen, Gonneke; Wilson, James F; Wright, Alan F; Yao, Jie; Zemunik, Tatijana; Zhang, Weihua; Attia, John R; Butterworth, Adam S; Chasman, Daniel I; Conen, David; Cucca, Francesco; Danesh, John; Hayward, Caroline; Howson, Joanna MM; Laakso, Markku; Lakatta, Edward G; Langenberg, Claudia; Melander, Olle; Mook-Kanamori, Dennis O; Palmer, Colin NA; Risch, Lorenz; Scott, Robert A; Scott, Rodney J; Sever, Peter; Spector, Tim D; van der Harst, Pim; Wareham, Nicholas J; Zeggini, Eleftheria; Levy, Daniel; Munroe, Patricia B; Newton-Cheh, Christopher; Brown, Morris J; Metspalu, Andres; Psaty, Bruce M.; Wain, Louise V; Elliott, Paul; Caulfield, Mark J; Gormley, Padhraig; Anttila, Verneri; Palta, Priit; Esko, Tonu; Pers, Tune H; Farh, Kai-How; Cuenca-Leon, Ester; Muona, Mikko; Furlotte, Nicholas A; Kurth, Tobias; Ingason, Andres; McMahon, George; Ligthart, Lannie; Terwindt, Gisela M; Kallela, Mikko; Freilinger, Tobias M; Ran, Caroline; Gordon, Scott G; Stam, Anine H; Steinberg, Stacy; Borck, Guntram; Koiranen, Markku; Quaye, Lydia; Adams, Hieab H H; Lehtimäki, Terho; Sarin, Antti-Pekka; Wedenoja, Juho; Hinds, David A; Buring, Julie E; Schürks, Markus; Ridker, Paul M; Gudlaug Hrafnsdottir, Maria; Stefansson, Hreinn; Ring, Susan M; Hottenga, Jouke-Jan; Penninx, Brenda W J H; Färkkilä, Markus; Artto, Ville; Kaunisto, Mari; Vepsäläinen, Salli; Malik, Rainer; Heath, Andrew C; Madden, Pamela A F; Martin, Nicholas G; Montgomery, Grant W; Kurki, Mitja I; Kals, Mart; Mägi, Reedik; Pärn, Kalle; Hämäläinen, Eija; Huang, Hailiang; Byrnes, Andrea E; Franke, Lude; Huang, Jie; Stergiakouli, Evie; Lee, Phil H; Sandor, Cynthia; Webber, Caleb; Cader, Zameel; Muller-Myhsok, Bertram; Schreiber, Stefan; Meitinger, Thomas; Eriksson, Johan G; Salomaa, Veikko; Heikkilä, Kauko; Loehrer, Elizabeth; Uitterlinden, Andre G; Hofman, Albert; van Duijn, Cornelia M; Cherkas, Lynn; Pedersen, Linda M; Stubhaug, Audun; Nielsen, Christopher S; Männikkö, Minna; Mihailov, Evelin; Milani, Lili; Göbel, Hartmut; Esserlind, Ann-Louise; Francke Christensen, Anne; Folkmann Hansen, Thomas; Werge, Thomas; Kaprio, Jaakko; Aromaa, Arpo J; Raitakari, Olli; Arfan Ikram, M; Spector, Tim; Järvelin, Marjo-Riitta; Metspalu, Andres; Kubisch, Christian; Strachan, David P; Ferrari, Michel D; Belin, Andrea C; Dichgans, Martin; Wessman, Maija; van den Maagdenberg, Arn M J M; Boomsma, Dorret I; Davey Smith, George; Stefansson, Kari; Eriksson, Nicholas; Daly, Mark J; Neale, Benjamin M; Olesen, Jes; Chasman, Daniel I; Nyholt, Dale R; Palotie, Aarno; Akiyama, Masato; Alg, Varinder S.; Børte, Sigrid; Broderick, Joseph P.; Brumpton, Ben M.; Dauvillier, Jérôme; Desal, Hubert; Dina, Christian; Friedrich, Christoph M.; Gaál-Paavola, Emília I.; Gentric, Jean-Christophe; Hirsch, Sven; Hostettler, Isabel C.; Houlden, Henry; Hveem, Kristian; Jääskeläinen, Juha E.; Johnsen, Marianne Bakke; Li, Liming; Lin, Kuang; Lindgren, Antti; Martin, Olivier; Matsuda, Koichi; Millwood, Iona Y.; Naggara, Olivier; Niemelä, Mika; Pera, Joanna; Redon, Richard; Rouleau, Guy A.; Sandvei, Marie Søfteland; Schilling, Sabine; Shotar, Eimad; Slowik, Agnieszka; Terao, Chikashi; Verschuren, W. M. Monique; Walters, Robin G.; Werring, David J.; Willer, Cristen J.; Woo, Daniel; Worrall, Bradford B. und Zhou, Sirui
(2023):
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity.
In: Stroke, Bd. 54, Nr. 3: S. 810-818
[PDF, 979kB]
2022
Park, Joohyun; Tucci, Arianna; Cipriani, Valentina; Demidov, German; Rocca, Clarissa; Senderek, Jan; Butryn, Michaela; Velic, Ana; Lam, Tanya; Galanaki, Evangelia; Cali, Elisa; Vestito, Letizia; Maroofian, Reza; Deininger, Natalie; Rautenberg, Maren; Admard, Jakob; Hahn, Gesa-Astrid; Bartels, Claudius; Os, Nienke J. H. van; Horvath, Rita; Chinnery, Patrick F.; Tiet, May Yung; Hewamadduma, Channa; Hadjivassiliou, Marios; Tofaris, George K.; Wood, Nicholas W.; Hayer, Stefanie N.; Bender, Friedemann; Menden, Benita; Cordts, Isabell; Klein, Katrin; Huu, Phuc Nguyen; Krauss, Joachim K.; Blahak, Christian; Strom, Tim M.; Sturm, Marc; Warrenburg, Bart vam de; Lerche, Holger; Macek, Boris; Synofzik, Matthis; Ossowski, Stephan; Timmann, Dagmar; Wolf, Marc E.; Smedley, Damian; Riess, Olaf; Schoels, Ludger; Houlden, Henry; Haack, Tobias B. und Hengel, Holger
(2022):
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
In: Genetics in Medicine, Bd. 24, Nr. 10: S. 2079-2090
Skorvanek, Matej; Rektorova, Irena; Mandemakers, Wim; Wagner, Matias; Steinfeld, Robert; Orec, Laura; Han, Vladimir; Pavelekova, Petra; Lackova, Alexandra; Kulcsarova, Kristina; Ostrozovicova, Miriam; Gdovinova, Zuzana; Plecko, Barbara; Brunet, Theresa; Berutti, Riccardo; Kuipers, Demy J. S.; Boumeester, Valerie; Havrankova, Petra; Tijssen, M. A. J.; Kaiyrzhanov, Rauan; Rizig, Mie; Houlden, Henry; Winkelmann, Juliane; Bonifati, Vincenzo; Zech, Michael und Jech, Robert
(2022):
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.
In: Parkinsonism & Related Disorders, Bd. 94: S. 54-61
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis und Durr, Alexandra
(2022):
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
In: American Journal of Human Genetics, Bd. 110, Nr. 7:
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Ostrozovicova, Miriama; Jech, Robert; Steel, Dora; Pavelekova, Petra; Han, Vladimir; Gdovinova, Zuzana; Lichtner, Peter; Kurian, Manju A.; Wiethoff, Sarah; Houlden, Henry; Havrankova, Petra; Winkelmann, Julianne; Zech, Michael und Skorvanek, Matej
(2022):
Recurrent VPS16 p.Arg187*Nonsense Variant in Early- Onset Generalized Dystonia.
In: Movement Disorders, Bd. 36, Nr. 8, 28647: S. 1984-1985
2021
Kour, Sukhleen; Rajan, Deepa S.; Fortuna, Tyler R.; Anderson, Eric N.; Ward, Caroline; Lee, Youngha; Lee, Sangmoon; Shin, Yong Beom; Chae, Jong-Hee; Choi, Murim; Siquier, Karine; Cantagrel, Vincent; Amiel, Jeanne; Stolerman, Elliot S.; Barnett, Sarah S.; Cousin, Margot A.; Castro, Diana; McDonald, Kimberly; Kirmse, Brian; Nemeth, Andrea H.; Rajasundaram, Dhivyaa; Innes, A. Micheil; Lynch, Danielle; Frosk, Patrick; Collins, Abigail; Gibbons, Melissa; Yang, Michele; Desguerre, Isabelle; Boddaert, Nathalie; Gitiaux, Cyril; Rydning, Siri Lynne; Selmer, Kaja K.; Urreizti, Roser; Garcia-Oguiza, Alberto; Osorio, Andres Nascimento; Verdura, Edgard; Pujol, Aurora; McCurry, Hannah R.; Landers, John E.; Agnihotri, Sameer; Andriescu, E. Corina; Moody, Shade B.; Phornphutkul, Chanika; Sacoto, Maria J. Guillen; Begtrup, Amber; Houlden, Henry; Kirschner, Janbernd; Schorling, David; Rudnik-Schoeneborn, Sabine; Strom, Tim M.; Leiz, Steffen; Juliette, Kali; Richardson, Randal; Yang, Ying; Zhang, Yuehua; Wang, Minghui; Wang, Jia; Wang, Xiaodong; Platzer, Konrad; Donkervoort, Sandra; Bonnemann, Carsten G.; Wagner, Matias; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Stanley, Valentina; Maroofian, Reza; Gleeson, Joseph G.; Zaki, Maha S.; Senderek, Jan und Pandey, Udai Bhan
(2021):
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
In: Nature Communications, Bd. 12, Nr. 1, 2558
Magrinelli, Francesca; Mehta, Sahil; Di Lazzaro, Giulia; Latorre, Anna; Edwards, Mark J.; Balint, Bettina; Basu, Purba; Kobylecki, Christopher; Groppa, Sergiu; Hegde, Anaita; Mulroy, Eoin; Estevez-Fraga, Carlos; Arora, Anshita; Kumar, Hrishikesh; Schneider, Susanne A.; Lewis, Patrick A.; Jaunmuktane, Zane; Revesz, Tamas; Gandhi, Sonia; Wood, Nicholas W.; Hardy, John A.; Tinazzi, Michele; Lal, Vivek; Houlden, Henry und Bhatia, Kailash P.
(2021):
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
In: Movement Disorders, Bd. 37, Nr. 1: S. 148-161
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria und Ebrahimi-Fakhari, Darius
(2021):
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
In: Human Mutation, Bd. 42, Nr. 6: S. 762-776
Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; Warrenburg, Bart P. van de; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli und Synofzik, Matthis
(2021):
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
In: Neurology, Bd. 96, Nr. 9, E1369-E1382
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; Ridder, Willem de; Winter, Jonathan de; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schols, Ludger; Nuernberg, Peter; Nürnberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark und Senderek, Jan
(2021):
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
In: Brain, Bd. 144: S. 1422-1434
2020
Steel, Dora; Zech, Michael; Zhao, Chen; Barwick, Katy E. S.; Burke, Derek; Demailly, Diane; Kumar, Kishore R.; Zorzi, Giovanna; Nardocci, Nardo; Kaiyrzhanov, Rauan; Wagner, Matias; Iuso, Arcangela; Berutti, Riccardo; Skorvanek, Matej; Necpal, Jan; Davis, Ryan; Wiethoff, Sarah; Mankad, Kshitij; Sudhakar, Sniya; Ferrini, Arianna; Sharma, Suvasini; Kamsteeg, Erik-Jan; Tijssen, Marina A.; Verschuuren, Corien; Egmond, Martje E. van; Flowers, Joanna M.; McEntagart, Meriel; Tucci, Arianna; Coubes, Philippe; Bustos, Bernabe I.; Gonzalez-Latapi, Paulina; Tisch, Stephen; Darveniza, Paul; Gorman, Kathleen M.; Peall, Kathryn J.; Bötzel, Kai; Koch, Jan C.; Kmiec, Tomasz; Plecko, Barbara; Boesch, Sylvia; Haslinger, Bernhard; Jech, Robert; Garavaglia, Barbara; Wood, Nick; Houlden, Henry; Gissen, Paul; Lubbe, Steven J.; Sue, Carolyn M.; Cif, Laura; Mencacci, Niccolo E.; Anderson, Glenn; Kurian, Manju A. und Winkelmann, Juliane
(2020):
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
In: Annals of Neurology, Bd. 88, Nr. 5: S. 867-877
Shadrin, Alexey A.; Mucha, Sören; Ellinghaus, David; Makarious, Mary B.; Blauwendraat, Cornelis; Sreelatha, Ashwin A. K.; Heras-Garvin, Antonio; Ding, Jinhui; Hammer, Monia; Foubert-Samier, Alexandra; Meissner, Wassilios G.; Rascol, Olivier; Pavy-Le Traon, Anne; Frei, Oleksandr; O'Connell, Kevin S.; Bahrami, Shahram; Schreiber, Stefan; Lieb, Wolfgang; Müller-Nurasyid, Martina; Schminke, Ulf; Homuth, Georg; Schmidt, Carsten O.; Nöthen, Markus M.; Hoffmann, Per; Gieger, Christian; Wenning, Gregor; Gibbs, J. Raphael; Franke, Andre; Hardy, John; Stefanova, Nadia; Gasser, Thomas; Singleton, Andrew; Houlden, Henry; Scholz, Sonja W.; Andreassen, Ole A. und Sharma, Manu
(2020):
Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease.
In: Movement Disorders, Bd. 36, Nr. 2: S. 449-459
Appelhof, Bart; Wagner, Matias; Hoefele, Julia; Heinze, Anja; Roser, Timo; Koch-Hogrebe, Margarete; Roosendaal, Stefan D.; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Torti, Erin; Houlden, Henry; Maroofian, Reza; Rajabi, Farrah; Sticht, Heinrich; Baas, Frank; Wieczorek, Dagmar und Abou Jamra, Rami
(2020):
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
In: European Journal of Human Genetics, Bd. 29, Nr. 3: S. 411-421
Bakker, Mark K.; Spek, Rick A. A. van der; Rheenen, Wouter van; Morel, Sandrine; Bourcier, Romain; Hostettler, Isabel C.; Alg, Varinder S.; Eijk, Kristel R. van; 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; Rannikmae, Kristiina; Sudlow, Cathie L. M.; Houlden, Henry; Berg, Leonard H. van den; Dina, Christian; Naggara, Olivier; Gentric, Jean-Christophe; Shotar, Eimad; Eugene, Francois; Desal, Hubert; Winsvold, Bendik S.; Borte, Sigrid; Johnsen, Marianne Bakke; Brumpton, Ben M.; Sandvei, Marie Softeland; Willer, Cristen J.; Hveem, Kristian; Zwart, John-Anker; Verschuren, W. M. Monique; Friedrich, Christoph M.; Hirsch, Sven; Schilling, Sabine; Dauvillier, Jerome; Martin, Olivier; Winsvold, Bendik S.; Winsvold, Bendik S.; Borte, Sigrid; Johnsen, Marianne Bakke; Brumpton, Ben M.; Sandvei, Marie Softeland; Willer, Cristen J.; Hveem, Kristian; Zwart, John-Anker; Bian, Zheng; Chen, Junshi; Chen, Yiping; Chen, Zhengming; Clarke, Robert; Collins, Rory; Guo, Yu; Han, Xiao; Hill, Michael; Li, Liming; Lin, Kuang; Liu, Depei; Lv, Jun; Millwood, Iona; Peto, Richard; Sansome, Sam; Walters, Robin; Yang, Xiaoming; Yu, Canqing; Koido, Masaru; Koido, Masaru; Akiyama, Masato; Terao, Chikashi; Matsuda, Koichi; Kamatani, Yoichiro; Desal, Hubert; Desal, Hubert; Bourcier, Romain; Redon, Richard; Dina, Christian; Naggara, Olivier; Eugene, Francois; Gentric, Jean-Christophe; Shotar, Eimad; Sargurupremraj, Muralidharan; Tatlisumak, Turgut; Debette, Stephanie; Werring, David J.; Houlden, Henry; Alg, Varinder S.; Hostettler, Isabel C.; Bonner, Stephen; Walsh, Daniel; Bulters, Diederik; Kitchen, Neil; Brown, Martin; Grieve, Joan; Bakker, Mark K.; Bourcier, Romain; Walters, Robin G.; Malik, Rainer; Dichgans, Martin ORCID: https://orcid.org/0000-0002-0654-387X; Sargurupremraj, Muralidharan; Tatlisumak, Turgut; Debette, Stephanie; Rinkel, Gabriel J. E.; Worrall, Bradford B.; Pera, Joanna; Slowik, Agnieszka; Broderick, Joseph P.; Werring, David J.; Woo, Daniel; Bijlenga, Philippe; Kamatani, Yoichiro; Ruigrok, Ynte M.; Jones, Gregory T.; Bown, Matthew J.; Ko, Nerissa U.; Kim, Helen; Coleman, Jonathan R. I.; Breen, Gerome; Zaroff, Jonathan G.; Klijn, Catharina J. M.; Malik, Rainer; Dichgans, Martin ORCID: https://orcid.org/0000-0002-0654-387X; Sargurupremraj, Muralidharan; Tatlisumak, Turgut; Amouyel, Philippe; Debette, Stephanie; Rinkel, Gabriel J. E.; Worrall, Bradford B.; Pera, Joanna; Slowik, Agnieszka; Gaal-Paavola, Emilia I.; Niemela, Mika; Jaaskelainen, Juha E.; Fraunberg, Mikael von und zu; Lindgren, Antti; Broderick, Joseph P.; Werring, David J.; Woo, Daniel; Redon, Richard; Bijlenga, Philippe; Kamatani, Yoichiro; Veldink, Jan H. und Ruigrok, Ynte M.
(2020):
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.
In: Nature Genetics, Bd. 52, Nr. 12: S. 1303-1313
ORCID: https://orcid.org/0000-0002-0654-387X; Sargurupremraj, Muralidharan; Tatlisumak, Turgut; Debette, Stephanie; Rinkel, Gabriel J. E.; Worrall, Bradford B.; Pera, Joanna; Slowik, Agnieszka; Broderick, Joseph P.; Werring, David J.; Woo, Daniel; Bijlenga, Philippe; Kamatani, Yoichiro; Ruigrok, Ynte M.; Jones, Gregory T.; Bown, Matthew J.; Ko, Nerissa U.; Kim, Helen; Coleman, Jonathan R. I.; Breen, Gerome; Zaroff, Jonathan G.; Klijn, Catharina J. M.; Malik, Rainer; Dichgans, Martin ORCID: https://orcid.org/0000-0002-0654-387X; Sargurupremraj, Muralidharan; Tatlisumak, Turgut; Amouyel, Philippe; Debette, Stephanie; Rinkel, Gabriel J. E.; Worrall, Bradford B.; Pera, Joanna; Slowik, Agnieszka; Gaal-Paavola, Emilia I.; Niemela, Mika; Jaaskelainen, Juha E.; Fraunberg, Mikael von und zu; Lindgren, Antti; Broderick, Joseph P.; Werring, David J.; Woo, Daniel; Redon, Richard; Bijlenga, Philippe; Kamatani, Yoichiro; Veldink, Jan H. und Ruigrok, Ynte M.
(2020):
Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.
In: Nature Genetics, Bd. 52, Nr. 12: S. 1303-1313
Schneeberger, Pauline E.; Kortuem, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, Rene; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Alonso, Aroa Rodriguez; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Meuwissen, Marije E. C.; Beysen, Diane; Kooy, R. Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G.; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; Gelb, Bruce D.; Kurth, Ingo; Hempel, Maja und Kutsche, Kerstin
(2020):
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
In: Brain, Bd. 143: S. 2437-2453
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah; Bennett, James T. und Sahin, Mustafa
(2020):
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
In: Brain, Bd. 143: S. 2929-2944