Susana Pinto
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.
Adey B, Cooper-Knock J, Al Khleifat A, Fogh I, Van Damme P, Corcia P, Couratier P, Hardiman O, McLaughlin R, Gotkine M, Drory V, Silani V, Ticozzi N, Veldink J, van den Berg L, de Carvalho M, Pinto S, Mora J, Povedano Panades M, Andersen P, Weber M, Başak N, Shaw C, Openshaw P, Morrison K, Landers J, Glass J, Vourc'h P, Dobson R, Breen G, Al-Chalabi A, Jones A, Iacoangeli A. Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival. Front Cell Neurosci 2023; 17:1112405.
Mar 2, 2023Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.
Mar 2, 2023Front Cell Neurosci 2023; 17:1112405
Adey Brett N, Cooper-Knock Johnathan, Al Khleifat Ahmad, Fogh Isabella, Van Damme Philip, Corcia Philippe, Couratier Philippe, Hardiman Orla, McLaughlin Russell L, Gotkine Marc, Drory Vivian E, Silani Vincenzo, Ticozzi Nicola, Veldink Jan H, van den Berg Leonard H, de Carvalho Mamede, Pinto Susana, Mora Jesus S, Povedano Panades Mónica, Andersen Peter Munch, Weber Markus, Başak Nazli A, Shaw Christopher E, Openshaw Peter J M, Morrison Karen E, Landers John E, Glass Jonathan D, Vourc'h Patrick, Dobson Richard J B, Breen Gerome, Al-Chalabi Ammar, Jones Ashley R, Iacoangeli Alfredo
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
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
Hop P, Zwamborn R, Hannon E, Shireby G, Nabais M, Walker E, van Rheenen W, Van Vugt J, Dekker A, Westeneng H, Tazelaar G, van Eijk K, Moisse M, Baird D, Al Khleifat A, Iacoangeli A, Ticozzi N, Ratti A, Cooper-Knock J, Morrison K, Shaw P, Basak A, Chio A, Calvo A, Moglia C, Canosa A, Brunetti M, Grassano M, Gotkine M, Lerner Y, Zabari M, Vourc'h P, Corcia P, Couratier P, Mora Pardina J, Salas T, Dion P, Ross J, Henderson R, Mathers S, McCombe P, Needham M, Nicholson G, Rowe D, Pamphlett R, Mather K, Sachdev P, Furlong S, Garton F, Henders A, Lin T, Ngo S, Steyn F, Wallace L, Williams K, Neto M, Cauchi R, Blair I, Kiernan M, Drory V, Povedano M, de Carvalho M, Pinto S, Weber M, Rouleau G, Silani V, Landers J, Shaw C, Andersen P, McRae A, van Es M, Pasterkamp R, Wray N, McLaughlin R, Hardiman O, Kenna K, Tsai E, Runz H, Al-Chalabi A, van den Berg L, Van Damme P, Mill J, Veldink J. Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS. Sci Transl Med 2022; 14:eabj0264.
Feb 23, 2022Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS.
Feb 23, 2022Sci Transl Med 2022; 14:eabj0264
Hop Paul J, Zwamborn Ramona A J, Hannon Eilis, Shireby Gemma, Nabais Marta F, Walker Emma M, van Rheenen Wouter, Van Vugt Joke J F A, Dekker Annelot M, Westeneng Henk-Jan, Tazelaar Gijs H P, van Eijk Kristel R, Moisse Matthieu, Baird Denis, Al Khleifat Ahmad, Iacoangeli Alfredo, Ticozzi Nicola, Ratti Antonia, Cooper-Knock Jonathan, Morrison Karen E, Shaw Pamela J, Basak A Nazli, Chio Adriano, Calvo Andrea, Moglia Cristina, Canosa Antonio, Brunetti Maura, Grassano Maurizio, Gotkine Marc, Lerner Yossef, Zabari Michal, Vourc'h Patrick, Corcia Philippe, Couratier Philippe, Mora Pardina Jesus S, Salas Teresa, Dion Patrick A, Ross Jay P, Henderson Robert D, Mathers Susan, McCombe Pamela A, Needham Merrilee, Nicholson Garth A, Rowe Dominic B, Pamphlett Roger, Mather Karen A, Sachdev Perminder S, Furlong Sarah, Garton Fleur C, Henders Anjali K, Lin Tian, Ngo Shyuan T, Steyn Frederik J, Wallace Leanne, Williams Kelly L, Neto Miguel Mitne, Cauchi Ruben J, Blair Ian P, Kiernan Matthew C, Drory Vivian, Povedano Monica, de Carvalho Mamede, Pinto Susana, Weber Markus, Rouleau Guy A, Silani Vincenzo, Landers John E, Shaw Christopher E, Andersen Peter M, McRae Allan F, van Es Michael A, Pasterkamp R Jeroen, Wray Naomi R, McLaughlin Russell L, Hardiman Orla, Kenna Kevin P, Tsai Ellen, Runz Heiko, Al-Chalabi Ammar, van den Berg Leonard H, Van Damme Philip, Mill Jonathan, 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
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
German ALS network MND-NET, Weis J, Dorst J, Volk A, Borck G, Sperfeld A, de Carvalho M, Klopstock T, Sendtner M, Otto M, Schuster J, Weishaupt J, Andersen P, Ludolph A, Meitinger T, Freischmidt A, Danzer K, Braak H, Del Tredici K, Jablonka S, Kubisch C, Zeller D, Weydt P, Grosskreutz J, Meyer T, Petri S, Grehl T, Müller K, Yilmaz R, Rosenbohm A, Ruf W, Neuwirth C, Hübers A, Günther K, Knehr A, Jordan B, Schrank B, Claeys K, Pinto S, Weber M, Brenner D. Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations. Brain 2019; 142:e67.
Jan 1, 2019Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
Jan 1, 2019Brain 2019; 142:e67
German ALS network MND-NET, Weis Joachim, Dorst Johannes, Volk Alexander E, Borck Guntram, Sperfeld Anne, de Carvalho Mamede, Klopstock Thomas, Sendtner Michael, Otto Markus, Schuster Joachim, Weishaupt Jochen H, Andersen Peter M, Ludolph Albert C, Meitinger Thomas, Freischmidt Axel, Danzer Karin M, Braak Heiko, Del Tredici Kelly, Jablonka Sibylle, Kubisch Christian, Zeller Daniel, Weydt Patrick, Grosskreutz Julian, Meyer Thomas, Petri Susanne, Grehl Torsten, Müller Kathrin, Yilmaz Rüstem, Rosenbohm Angela, Ruf Wolfgang, Neuwirth Christoph, Hübers Annemarie, Günther Kornelia, Knehr Antje, Jordan Berit, Schrank Berthold, Claeys Kristl G, Pinto Susana, Weber Markus, Brenner David
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
van den Berg L, Grosskreutz J, Weber M, Couratier P, Corcia P, van Es M, Bredenoord A, Shaw C, Gunkel A, Rödiger A, Ludolph A, Petri S, de Carvalho M, Veldink J, Moons K, Hardiman O, Chio A, Al-Chalabi A, Shaw P, Turner M, Talbot K, Van Damme P, Ringer T, Körner S, Gromicho M, Pinto S, Thompson A, McDermott C, Martin S, Calvo A, Rooney J, van Eijk R, Visser A, Debray T, Kobeleva X, Rosenbohm A, Stubendorff B, Hollinger H, Kazoka M, Heverin M, Vajda A, van Rheenen W, Van Vugt J, Dekker A, Middelkoop B, Sommer H, Westeneng H. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model. Lancet Neurol 2018; 17:423-433.
Mar 26, 2018Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Mar 26, 2018Lancet Neurol 2018; 17:423-433
van den Berg Leonard H, Grosskreutz Julian, Weber Markus, Couratier Philippe, Corcia Philippe, van Es Michael A, Bredenoord Annelien L, Shaw Christopher E, Gunkel Anne, Rödiger Annekathrin, Ludolph Albert C, Petri Susanne, de Carvalho Mamede, Veldink Jan H, Moons Karel G M, Hardiman Orla, Chio Adriano, Al-Chalabi Ammar, Shaw Pamela J, Turner Martin R, Talbot Kevin, Van Damme Philip, Ringer Thomas M, Körner Sonja, Gromicho Marta, Pinto Susana, Thompson Alexander G, McDermott Christopher J, Martin Sarah, Calvo Andrea, Rooney James P K, van Eijk Ruben P A, Visser Anne E, Debray Thomas P A, Kobeleva Xenia, Rosenbohm Angela, Stubendorff Beatrice, Hollinger Hannah, Kazoka Mbombe, Heverin Mark, Vajda Alice, van Rheenen Wouter, Van Vugt Joke J F A, Dekker Annelot M, Middelkoop Bas M, Sommer Helma, Westeneng Henk-Jan
Hot-spot KIF5A mutations cause familial ALS
Weishaupt J, Weis J, Dorst J, Volk A, Borck G, Sperfeld A, de Carvalho M, Klopstock T, Sendtner M, Otto M, Schuster J, Andersen P, Ludolph A, Strom T, Meitinger T, Freischmidt A, Danzer K, Braak H, Del Tredici K, Jablonka S, Kubisch C, German ALS network MND-NET, Ruf W, Weydt P, Grosskreutz J, Meyer T, Petri S, Grehl T, Müller K, Yilmaz R, Neuwirth C, Weber M, Zeller D, Hübers A, Günther K, Knehr A, Jordan B, Schrank B, Claeys K, Pinto S, Brenner D. Hot-spot KIF5A mutations cause familial ALS. Brain 2018
Jan 12, 2018Hot-spot KIF5A mutations cause familial ALS
Jan 12, 2018Brain 2018
Weishaupt Jochen H, Weis Joachim, Dorst Johannes, Volk Alexander E, Borck Guntram, Sperfeld Anne, de Carvalho Mamede, Klopstock Thomas, Sendtner Michael, Otto Markus, Schuster Joachim, Andersen Peter M, Ludolph Albert C, Strom Tim M, Meitinger Thomas, Freischmidt Axel, Danzer Karin M, Braak Heiko, Del Tredici Kelly, Jablonka Sibylle, Kubisch Christian, German ALS network MND-NET, Ruf Wolfgang, Weydt Patrick, Grosskreutz Julian, Meyer Thomas, Petri Susanne, Grehl Torsten, Müller Kathrin, Yilmaz Rüstem, Neuwirth Christoph, Weber Markus, Zeller Daniel, Hübers Annemarie, Günther Kornelia, Knehr Antje, Jordan Berit, Schrank Berthold, Claeys Kristl G, Pinto Susana, Brenner David
Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study
Nordin A, Burkhardt C, Neuwirth C, Holmøy T, Morita M, Tysnes O, Benatar M, Wuu J, Lange D, Bisgård C, Asgari N, Tarvainen I, Brännström T, Weber M, Schweikert K, Grehl T, Akimoto C, Wuolikainen A, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A, Nordin F, Ludolph A, Weishaupt J, Meyer T, Andersen P. Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study. Amyotroph Lateral Scler Frontotemporal Degener 2016; 18:256-264.
Dec 12, 2016Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study
Dec 12, 2016Amyotroph Lateral Scler Frontotemporal Degener 2016; 18:256-264
Nordin Angelica, Burkhardt Christian, Neuwirth Christoph, Holmøy Trygve, Morita Mitsuya, Tysnes Ole-Bjørn, Benatar Michael, Wuu Joanne, Lange Dale J, Bisgård Carsten, Asgari Nasrin, Tarvainen Ilkka, Brännström Thomas, Weber Markus, Schweikert Kathi, Grehl Torsten, Akimoto Chizuru, Wuolikainen Anna, Alstermark Helena, Forsberg Karin, Baumann Peter, Pinto Susana, de Carvalho Mamede, Hübers Annemarie, Nordin Frida, Ludolph Albert C, Weishaupt Jochen H, Meyer Thomas, Andersen Peter M
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Zhang K, Arcuti S, Brunetti M, Moglia C, Calvo A, Ratti A, Tiloca C, Gellera C, Pensato V, Mazzini L, Capozzo R, Zecca C, Blair I, Stuit R, Muller B, Filosto M, Padovani A, Riva N, Penco S, Lunetta C, Sorarù G, Bertolin C, Blauw H, Curtis C, Hofman A, Estrada K, Rivadeneira F, Uitterlinden A, Dartigues J, Tzourio C, Amouyel P, van der Kooi A, de Visser M, D'Alfonso S, Comi G, Del Bo R, Cereda C, Pansarasa O, Smith B, Shaw C, Weber M, Goris A, Nöthen M, McCann E, Veldink J, Corcia P, Andersen P, Hardiman O, Landers J, Glass J, Brown R, Pers T, Franke L, Van Damme P, Vourc'h P, Silani V, van den Berg L, Al-Chalabi A, Breen G, Lewis C, Pasterkamp R, van Es M, de Bakker P, Visscher P, Wray N, Robberecht W, Weishaupt J, Stubendorff B, Prell T, Ringer T, Witte O, Grosskreutz J, Kiernan M, Pamphlett R, Rowe D, Nicholson G, Kurth I, Hübner C, Ludolph A, Powell J, Logroscino G, Tortelli R, Pupillo E, Beghi E, Chio A, Casale F, Leigh P, Fifita J, Chandran S, Koritnik B, Ravnik-Glavač M, Vrabec K, Rogelj B, Lin K, Ticozzi N, Vajda A, Menelaou A, Medic J, Zidar J, Leonardis L, Polak M, Rojas-García R, Mora J, Pinto S, de Carvalho M, Meininger V, Salachas F, Millecamps S, Grošelj L, Brands W, Schellevis R, Robinson M, de Jong S, Võsa U, van der Spek R, Pulit S, Diekstra F, McLaughlin R, Dekker A, Shatunov A, Yang J, Fogh I, Harschnitz O, van Eijk K, Kenna K, Jones A, Sproviero W, Blokhuis A, Koppers M, Tazelaar G, van Doormaal P, van Rheenen W, Colville S, Cichon S, Maurel C, Andres C, Radivojkov-Blagojevic M, Lichtner P, Meitinger T, Parman Y, Hamzeiy H, Tunca C, Basak A, Bensimon G, Landwehrmeyer B, Rietschel M, Franke A, Lieb W, Tittmann L, Wood N, Dürr A, Saker-Delye S, Payan C, Brice A, McCluskey L, Elman L, Topp S, Malaspina A, Fratta P, Sidle K, Pittman A, Orrell R, Hardy J, Shaw P, Morrison K, Petri S, Abdulla S, Trojanowski J, Van Deerlin V, Lomen-Hoerth C, Wiedau-Pazos M, Staats K, Ophoff R, Meyer T, Sendtner M, Drepper C, Swingler R. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat Genet 2016; 48:1043-8.
Jul 25, 2016Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Jul 25, 2016Nat Genet 2016; 48:1043-8
Zhang Katharine, Arcuti Simona, Brunetti Maura, Moglia Cristina, Calvo Andrea, Ratti Antonia, Tiloca Cinzia, Gellera Cinzia, Pensato Viviana, Mazzini Letizia, Capozzo Rosa, Zecca Chiara, Blair Ian, Stuit Robbert Jan, Muller Bernard, Filosto Massimiliano, Padovani Alessandro, Riva Nilo, Penco Silvana, Lunetta Christian, Sorarù Gianni, Bertolin Cinzia, Blauw Hylke M, Curtis Charles, Hofman Albert, Estrada Karol, Rivadeneira Fernando, Uitterlinden André G, Dartigues Jean-François, Tzourio Christophe, Amouyel Philippe, van der Kooi Anneke J, de Visser Marianne, D'Alfonso Sandra, Comi Giacomo P, Del Bo Roberto, Cereda Cristina, Pansarasa Orietta, Smith Bradley N, Shaw Christopher E, Weber Markus, Goris An, Nöthen Markus M, McCann Emily P, Veldink Jan H, Corcia Philippe, Andersen Peter M, Hardiman Orla, Landers John E, Glass Jonathan D, Brown Robert H, Pers Tune H, Franke Lude, Van Damme Philip, Vourc'h Patrick, Silani Vincenzo, van den Berg Leonard H, Al-Chalabi Ammar, Breen Gerome, Lewis Cathryn M, Pasterkamp R Jeroen, van Es Michael A, de Bakker Paul I W, Visscher Peter M, Wray Naomi R, Robberecht Wim, Weishaupt Jochen H, Stubendorff Beatrice, Prell Tino, Ringer Thomas, Witte Otto W, Grosskreutz Julian, Kiernan Matthew C, Pamphlett Roger, Rowe Dominic B, Nicholson Garth A, Kurth Ingo, Hübner Christian A, Ludolph Albert C, Powell John, Logroscino Giancarlo, Tortelli Rosanna, Pupillo Elisabetta, Beghi Ettore, Chio Adriano, Casale Federico, Leigh P Nigel, Fifita Jennifer A, Chandran Siddharthan, Koritnik Blaž, Ravnik-Glavač Metka, Vrabec Katarina, Rogelj Boris, Lin Kuang, Ticozzi Nicola, Vajda Alice, Menelaou Androniki, Medic Jelena, Zidar Janez, Leonardis Lea, Polak Meraida, Rojas-García Ricardo, Mora Jesus S, Pinto Susana, de Carvalho Mamede, Meininger Vincent, Salachas François, Millecamps Stéphanie, Grošelj Leja Dolenc, Brands William J, Schellevis Raymond D, Robinson Matthew R, de Jong Simone, Võsa Urmo, van der Spek Rick A A, Pulit Sara L, Diekstra Frank P, McLaughlin Russell L, Dekker Annelot M, Shatunov Aleksey, Yang Jian, Fogh Isabella, Harschnitz Oliver, van Eijk Kristel R, Kenna Kevin P, Jones Ashley R, Sproviero William, Blokhuis Anna M, Koppers Max, Tazelaar Gijs H P, van Doormaal Perry Tc, van Rheenen Wouter, Colville Shuna, Cichon Sven, Maurel Cindy, Andres Christian R, Radivojkov-Blagojevic Milena, Lichtner Peter, Meitinger Thomas, Parman Yesim, Hamzeiy Hamid, Tunca Ceren, Basak A Nazli, Bensimon Gilbert, Landwehrmeyer Bernhard, Rietschel Marcella, Franke Andre, Lieb Wolfgang, Tittmann Lukas, Wood Nicholas W, Dürr Alexandra, Saker-Delye Safaa, Payan Christine A M, Brice Alexis, McCluskey Leo, Elman Lauren, Topp Simon, Malaspina Andrea, Fratta Pietro, Sidle Katie, Pittman Alan, Orrell Richard W, Hardy John, Shaw Pamela J, Morrison Karen E, Petri Susanne, Abdulla Susanne, Trojanowski John Q, Van Deerlin Vivianna M, Lomen-Hoerth Catherine, Wiedau-Pazos Martina, Staats Kim A, Ophoff Roel A, Meyer Thomas, Sendtner Michael, Drepper Carsten, Swingler Robert
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Kubisch C, de Carvalho M, Lloyd-Jani A, Konno T, DeJesus-Hernandez M, Angerbauer S, Daoud H, Just W, Tradowsky D, Mouzat K, Landers J, Veldink J, Andersen P, Rademakers R, Van Broeckhoven C, van den Berg L, Rouleau G, Shaw C, Gitler A, Silani V, Nordin A, Calini D, Birve A, Onodera O, Neitzel B, Camu W, Lumbroso S, Leblond C, Van den Broeck M, van Blitterswijk M, Volk A, van Rheenen W, Pinto S, Weber M, Alstermark H, van der Zee J, Ratti A, Chesi A, Keagle P, Talbot K, Proven M, Smith B, Akimoto C. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. J Med Genet 2014; 51:419-24.
Apr 4, 2014A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
Apr 4, 2014J Med Genet 2014; 51:419-24
Kubisch Christian, de Carvalho Mamede, Lloyd-Jani Anjali, Konno Takuya, DeJesus-Hernandez Mariely, Angerbauer Sabrina, Daoud Hussein, Just Walter, Tradowsky Daniela C, Mouzat Kevin, Landers John E, Veldink Jan H, Andersen Peter M, Rademakers Rosa, Van Broeckhoven Christine, van den Berg Leonard H, Rouleau Guy A, Shaw Christopher E, Gitler Aaron D, Silani Vincenzo, Nordin Angelica, Calini Daniela, Birve Anna, Onodera Osamu, Neitzel Birgit, Camu William, Lumbroso Serge, Leblond Claire S, Van den Broeck Marleen, van Blitterswijk Marka, Volk Alexander E, van Rheenen Wouter, Pinto Susana, Weber Markus, Alstermark Helena, van der Zee Julie, Ratti Antonia, Chesi Alessandra, Keagle Pamela, Talbot Kevin, Proven Melanie, Smith Bradley, Akimoto Chizuru