Robert Steinbach
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Vill K, Tacke M, König A, Baumann M, Baumgartner M, Steinbach M, Bernert G, Blaschek A, Deschauer M, Flotats-Bastardas M, Friese J, Goldbach S, Gross M, Günther R, Hahn A, Hagenacker T, Hauser E, Horber V, Illsinger S, Johannsen J, Kamm C, Koch J, Kölbel H, Köhler C, Kolzter K, Lochmüller H, Ludolph A, Mensch A, Meyer Zu Hoerste G, Mueller M, Mueller-Felber W, Neuwirth C, Petri S, Probst-Schendzielorz K, Pühringer M, Steinbach R, Schara-Schmidt U, Schimmel M, Schrank B, Schwartz O, Schlachter K, Schwerin-Nagel A, Schreiber G, Smitka M, Topakian R, Trollmann R, Türk M, Theophil M, Rauscher C, Vorgerd M, Walter M, Weiler M, Weiss C, Wilichowski E, Wurster C, Wunderlich G, Zeller D, Ziegler A, Kirschner J, Pechmann A, SMArtCARE study group. 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2. J Neurol 2024
Feb 27, 20245qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Feb 27, 2024J Neurol 2024
Vill Katharina, Tacke Moritz, König Anna, Baumann Matthias, Baumgartner Manuela, Steinbach Meike, Bernert Günther, Blaschek Astrid, Deschauer Marcus, Flotats-Bastardas Marina, Friese Johannes, Goldbach Susanne, Gross Martin, Günther René, Hahn Andreas, Hagenacker Tim, Hauser Erwin, Horber Veronka, Illsinger Sabine, Johannsen Jessika, Kamm Christoph, Koch Jan Christoph, Kölbel Heike, Köhler Cornelia, Kolzter Kirsten, Lochmüller Hanns, Ludolph Albert C, Mensch Alexander, Meyer Zu Hoerste Gerd, Mueller Monika, Mueller-Felber Wolfgang, Neuwirth Christoph, Petri Susanne, Probst-Schendzielorz Kristina, Pühringer Manuel, Steinbach Robert, Schara-Schmidt Ulrike, Schimmel Mareike, Schrank Bertold, Schwartz Oliver, Schlachter Kurt, Schwerin-Nagel Annette, Schreiber Gudrun, Smitka Martin, Topakian Raffi, Trollmann Regina, Türk Matthias, Theophil Manuela, Rauscher Christian, Vorgerd Mathias, Walter M C, Weiler Markus, Weiss Claudia, Wilichowski Ekkehard, Wurster Claudia D, Wunderlich Gilbert, Zeller Daniel, Ziegler Andreas, Kirschner Janbernd, Pechmann Astrid, SMArtCARE study group
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Günther R, Wurster C, Brakemeier S, Osmanovic A, Schreiber-Katz O, Petri S, Uzelac Z, Hiebeler M, Thiele S, Walter M, Weiler M, Kessler T, Freigang M, Lapp H, Cordts I, Lingor P, Deschauer M, Hahn A, Martakis K, Steinbach R, Ilse B, Roediger A, Bellut J, Nentwich J, Zeller D, Muhandes M, Baum T, Koch J, Schrank B, Fischer S, Hermann A, Kamm C, Naegel S, Mensch A, Weber M, Neuwirth C, Lehmann H, Wunderlich G, Stadler C, Tomforde M, George A, Gross M, Pechmann A, Kirschner J, Türk M, Schimmel M, Bernert G, Martin P, Rauscher C, Meyer Zu Hörste G, Baum P, Löscher W, Flotats-Bastardas M, Köhler C, Probst-Schendzielorz K, Goldbach S, Schara-Schmidt U, Mueller-Felber W, Lochmüller H, von Velsen O, SMArtCARE study group, Kleinschnitz C, Ludolph A, Hagenacker T. Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study. Lancet Reg Health Eur 2024; 39:100862.
Feb 6, 2024Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Feb 6, 2024Lancet Reg Health Eur 2024; 39:100862
Günther René, Wurster Claudia Diana, Brakemeier Svenja, Osmanovic Alma, Schreiber-Katz Olivia, Petri Susanne, Uzelac Zeljko, Hiebeler Miriam, Thiele Simone, Walter M C, Weiler Markus, Kessler Tobias, Freigang Maren, Lapp Hanna Sophie, Cordts Isabell, Lingor Paul, Deschauer Marcus, Hahn Andreas, Martakis Kyriakos, Steinbach Robert, Ilse Benjamin, Roediger Annekathrin, Bellut Julia, Nentwich Julia, Zeller Daniel, Muhandes Mohamad Tareq, Baum Tobias, Koch Jan Christoph, Schrank Bertold, Fischer Sophie, Hermann Andreas, Kamm Christoph, Naegel Steffen, Mensch Alexander, Weber Markus, Neuwirth Christoph, Lehmann Helmar C, Wunderlich Gilbert, Stadler Christian, Tomforde Maike, George Annette, Gross Martin, Pechmann Astrid, Kirschner Janbernd, Türk Matthias, Schimmel Mareike, Bernert Günther, Martin Pascal, Rauscher Christian, Meyer Zu Hörste Gerd, Baum Petra, Löscher Wolfgang, Flotats-Bastardas Marina, Köhler Cornelia, Probst-Schendzielorz Kristina, Goldbach Susanne, Schara-Schmidt Ulrike, Mueller-Felber Wolfgang, Lochmüller Hanns, von Velsen Otgonzul, SMArtCARE study group, Kleinschnitz Christoph, Ludolph Albert C, Hagenacker Tim
Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek R, Bakker M, Van Vugt J, Hop P, Zwamborn R, de Klein N, Westra H, Bakker O, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker A, Gawor K, Westeneng H, Tazelaar G, van Eijk K, Kooyman M, Byrne R, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith B, Gromicho M, Chandran S, Pal S, Morrison K, Shaw P, Hardy J, Orrell R, Sendtner M, Meyer T, Başak N, van der Kooi A, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chio A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh R, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina J, Assialioui A, Rojas-García R, Dion P, Ross J, Ludolph A, Weishaupt J, Brenner D, Freischmidt A, Bensimon G, Brice A, Dürr A, Payan C, Saker-Delye S, Wood N, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman D, Olsen C, Uitterlinden A, Hofman A, Rietschel M, Cichon S, Nöthen M, Amouyel P, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Traynor B, Singleton A, Mitne Neto M, Cauchi R, Ophoff R, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin V, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte O, Steinbach R, Hübner C, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair I, Kiernan M, Benyamin B, Henderson R, Furlong S, Mathers S, McCombe P, Needham M, Ngo S, Nicholson G, Pamphlett R, Rowe D, Steyn F, Williams K, Mather K, Sachdev P, Henders A, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau G, Silani V, Curtis C, Breen G, Glass J, Brown R, Landers J, Shaw C, Andersen P, Groen E, van Es M, Pasterkamp R, Fan D, Garton F, McRae A, Davey Smith G, Gaunt T, Eberle M, Mill J, McLaughlin R, Hardiman O, Kenna K, Wray N, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg L, Veldink J. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet 2022; 54:361.
Mar 1, 2022Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Mar 1, 2022Nat Genet 2022; 54:361
van Rheenen Wouter, van der Spek Rick A A, Bakker Mark K, Van Vugt Joke J F A, Hop Paul J, Zwamborn Ramona A J, de Klein Niek, Westra Harm-Jan, Bakker Olivier B, Deelen Patrick, Shireby Gemma, Hannon Eilis, Moisse Matthieu, Baird Denis, Restuadi Restuadi, Dolzhenko Egor, Dekker Annelot M, Gawor Klara, Westeneng Henk-Jan, Tazelaar Gijs H P, van Eijk Kristel R, Kooyman Maarten, Byrne Ross P, Doherty Mark, Heverin Mark, Al Khleifat Ahmad, Iacoangeli Alfredo, Shatunov Aleksey, Ticozzi Nicola, Cooper-Knock Johnathan, Smith Bradley N, Gromicho Marta, Chandran Siddharthan, Pal Suvankar, Morrison Karen E, Shaw Pamela J, Hardy John, Orrell Richard W, Sendtner Michael, Meyer Thomas, Başak Nazli, van der Kooi Anneke J, Ratti Antonia, Fogh Isabella, Gellera Cinzia, Lauria Giuseppe, Corti Stefania, Cereda Cristina, Sproviero Daisy, D'Alfonso Sandra, Sorarù Gianni, Siciliano Gabriele, Filosto Massimiliano, Padovani Alessandro, Chio Adriano, Calvo Andrea, Moglia Cristina, Brunetti Maura, Canosa Antonio, Grassano Maurizio, Beghi Ettore, Pupillo Elisabetta, Logroscino Giancarlo, Nefussy Beatrice, Osmanovic Alma, Nordin Angelica, Lerner Yossef, Zabari Michal, Gotkine Marc, Baloh Robert H, Bell Shaughn, Vourc'h Patrick, Corcia Philippe, Couratier Philippe, Millecamps Stéphanie, Meininger Vincent, Salachas François, Mora Pardina Jesus S, Assialioui Abdelilah, Rojas-García Ricardo, Dion Patrick A, Ross Jay P, Ludolph Albert C, Weishaupt Jochen H, Brenner David, Freischmidt Axel, Bensimon Gilbert, Brice Alexis, Dürr Alexandra, Payan Christine A M, Saker-Delye Safa, Wood Nicholas W, Topp Simon, Rademakers Rosa, Tittmann Lukas, Lieb Wolfgang, Franke Andre, Ripke Stephan, Braun Alice, Kraft Julia, Whiteman David C, Olsen Catherine M, Uitterlinden André G, Hofman Albert, Rietschel Marcella, Cichon Sven, Nöthen Markus M, Amouyel Philippe, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Traynor Bryan J, Singleton Andrew B, Mitne Neto Miguel, Cauchi Ruben J, Ophoff Roel A, Wiedau-Pazos Martina, Lomen-Hoerth Catherine, Van Deerlin Vivianna M, Grosskreutz Julian, Roediger Annekathrin, Gaur Nayana, Jörk Alexander, Barthel Tabea, Theele Erik, Ilse Benjamin, Stubendorff Beatrice, Witte Otto W, Steinbach Robert, Hübner Christian A, Graff Caroline, Brylev Lev, Fominykh Vera, Demeshonok Vera, Ataulina Anastasia, Rogelj Boris, Koritnik Blaž, Zidar Janez, Ravnik-Glavač Metka, Glavač Damjan, Stević Zorica, Drory Vivian, Povedano Monica, Blair Ian P, Kiernan Matthew C, Benyamin Beben, Henderson Robert D, Furlong Sarah, Mathers Susan, McCombe Pamela A, Needham Merrilee, Ngo Shyuan T, Nicholson Garth A, Pamphlett Roger, Rowe Dominic B, Steyn Frederik J, Williams Kelly L, Mather Karen A, Sachdev Perminder S, Henders Anjali K, Wallace Leanne, de Carvalho Mamede, Pinto Susana, Petri Susanne, Weber Markus, Rouleau Guy A, Silani Vincenzo, Curtis Charles J, Breen Gerome, Glass Jonathan D, Brown Robert H, Landers John E, Shaw Christopher E, Andersen Peter M, Groen Ewout J N, van Es Michael A, Pasterkamp R Jeroen, Fan Dongsheng, Garton Fleur C, McRae Allan F, Davey Smith George, Gaunt Tom R, Eberle Michael A, Mill Jonathan, McLaughlin Russell L, Hardiman Orla, Kenna Kevin P, Wray Naomi R, Tsai Ellen, Runz Heiko, Franke Lude, Al-Chalabi Ammar, Van Damme Philip, van den Berg Leonard H, Veldink Jan H
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek R, Bakker M, Farei-Campagna J, Hop P, Zwamborn R, de Klein N, Westra H, Bakker O, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker A, Gawor K, Westeneng H, Tazelaar G, van Eijk K, Kooyman M, Byrne R, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith B, Gromicho M, Chandran S, Pal S, Morrison K, Openshaw P, Hardy J, Orrell R, Sendtner M, Meyer T, Başak N, van der Kooi A, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chio A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh R, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora J, Assialioui A, Rojas-García R, Dion P, Ross J, Ludolph A, Weishaupt J, Brenner D, Freischmidt A, Bensimon G, Brice A, Dürr A, Payan C, Saker-Delye S, Wood N, Topp S, Rademakers R, Tittmann L, Lieb W, Klein-Franke A, Ripke S, Braun A, Kraft J, Whiteman D, Olsen C, Uitterlinden A, Hofman A, Rietschel M, Cichon S, Nöthen M, Amouyel P, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Traynor B, Singleton A, Mitne Neto M, Cauchi R, Ophoff R, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin V, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte O, Steinbach R, Hübner C, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair I, Kiernan M, Benyamin B, Henderson R, Furlong S, Mathers S, McCombe P, Needham M, Ngo S, Nicholson G, Pamphlett R, Rowe D, Steyn F, Williams K, Mather K, Sachdev P, Henders A, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau G, Silani V, Curtis C, Breen G, Glass J, Brown R, Landers J, Shaw C, Andersen P, Groen E, van Es M, Pasterkamp R, Fan D, Garton F, McRae A, Davey Smith G, Gaunt T, Eberle M, Mill J, McLaughlin R, Hardiman O, Kenna K, Wray N, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg L, Veldink J. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. Nat Genet 2021; 53:1636-1648.
Dec 6, 2021Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Dec 6, 2021Nat Genet 2021; 53:1636-1648
van Rheenen Wouter, van der Spek Rick A A, Bakker Mark K, Farei-Campagna Jan Marino, Hop Paul J, Zwamborn Ramona A J, de Klein Niek, Westra Harm-Jan, Bakker Olivier B, Deelen Patrick, Shireby Gemma, Hannon Eilis, Moisse Matthieu, Baird Denis, Restuadi Restuadi, Dolzhenko Egor, Dekker Annelot M, Gawor Klara, Westeneng Henk-Jan, Tazelaar Gijs H P, van Eijk Kristel R, Kooyman Maarten, Byrne Ross P, Doherty Mark, Heverin Mark, Al Khleifat Ahmad, Iacoangeli Alfredo, Shatunov Aleksey, Ticozzi Nicola, Cooper-Knock Johnathan, Smith Bradley N, Gromicho Marta, Chandran Siddharthan, Pal Suvankar, Morrison Karen E, Openshaw Peter J M, Hardy John, Orrell Richard W, Sendtner Michael, Meyer Thomas, Başak Nazli A, van der Kooi Anneke J, Ratti Antonia, Fogh Isabella, Gellera Cinzia, Lauria Giuseppe, Corti Stefania, Cereda Cristina, Sproviero Daisy, D'Alfonso Sandra, Sorarù Gianni, Siciliano Gabriele, Filosto Massimiliano, Padovani Alessandro, Chio Adriano, Calvo Andrea, Moglia Cristina, Brunetti Maura, Canosa Antonio, Grassano Maurizio, Beghi Ettore, Pupillo Elisabetta, Logroscino Giancarlo, Nefussy Beatrice, Osmanovic Alma, Nordin Angelica, Lerner Yossef, Zabari Michal, Gotkine Marc, Baloh Robert H, Bell Shaughn, Vourc'h Patrick, Corcia Philippe, Couratier Philippe, Millecamps Stéphanie, Meininger Vincent, Salachas François, Mora Jesus S, Assialioui Abdelilah, Rojas-García Ricardo, Dion Patrick A, Ross Jay P, Ludolph Albert C., Weishaupt Jochen H, Brenner David, Freischmidt Axel, Bensimon Gilbert, Brice Alexis, Dürr Alexandra, Payan Christine A M, Saker-Delye Safaa, Wood Nicholas W, Topp Simon, Rademakers Rosa, Tittmann Lukas, Lieb Wolfgang, Klein-Franke Andreas, Ripke Stephan, Braun Alice, Kraft Julia, Whiteman David C, Olsen Catherine M, Uitterlinden André G, Hofman Albert, Rietschel Marcella, Cichon Sven, Nöthen Markus M, Amouyel Philippe, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Traynor Bryan J, Singleton Andrew B, Mitne Neto Miguel, Cauchi Ruben J, Ophoff Roel A, Wiedau-Pazos Martina, Lomen-Hoerth Catherine, Van Deerlin Vivianna M, Grosskreutz Julian, Roediger Annekathrin, Gaur Nayana, Jörk Alexander, Barthel Tabea, Theele Erik, Ilse Benjamin, Stubendorff Beatrice, Witte Otto W, Steinbach Robert, Hübner Christian A, Graff Caroline, Brylev Lev, Fominykh Vera, Demeshonok Vera, Ataulina Anastasia, Rogelj Boris, Koritnik Blaž, Zidar Janez, Ravnik-Glavač Metka, Glavač Damjan, Stević Zorica, Drory Vivian E, Povedano Monica, Blair Ian P, Kiernan Matthew C, Benyamin Beben, Henderson Robert D, Furlong Sarah, Mathers Susan, McCombe Pamela A, Needham Merrilee, Ngo Shyuan T, Nicholson Garth A, Pamphlett Roger, Rowe Dominic B, Steyn Frederik J, Williams Kelly L, Mather Karen A, Sachdev Perminder S, Henders Anjali K, Wallace Leanne, de Carvalho Mamede, Pinto Susana, Petri Susanne, Weber Markus, Rouleau Guy A, Silani Vincenzo, Curtis Charles J, Breen Gerome, Glass Jonathan D, Brown Robert H, Landers John E, Shaw Christopher E, Andersen Peter Munch, Groen Ewout J N, van Es Michael A, Pasterkamp R Jeroen, Fan Dongsheng, Garton Fleur C, McRae Allan F, Davey Smith George, Gaunt Tom R, Eberle Michael A, Mill Jonathan, McLaughlin Russell L, Hardiman Orla, Kenna Kevin P, Wray Naomi R, Tsai Ellen, Runz Heiko, Franke Lude, Al-Chalabi Ammar, Van Damme Philip, van den Berg Leonard H, Veldink Jan H