Pamela J Shaw
Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
Al Khleifat A, Iacoangeli A, Jones A, Van Vugt J, Moisse M, Shatunov A, Zwamborn R, van der Spek R, Cooper-Knock J, Topp S, van Rheenen W, Kenna B, van Eijk K, Kenna K, Byrne R, López V, Opie-Martin S, Vural A, Campos Y, Weber M, Smith B, Fogh I, Silani V, Morrison K, Dobson R, van Es M, McLaughlin R, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades M, Mora J, Shaw P, Landers J, Glass J, Shaw C, Başak N, Hardiman O, Robberecht W, Van Damme P, van den Berg L, Veldink J, Al-Chalabi A. Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data. Front Cell Neurosci 2022; 16:1050596.
Dec 15, 2022Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data.
Dec 15, 2022Front Cell Neurosci 2022; 16:1050596
Al Khleifat Ahmad, Iacoangeli Alfredo, Jones Ashley R, Van Vugt Joke J F A, Moisse Matthieu, Shatunov Aleksey, Zwamborn Ramona A J, van der Spek Rick A A, Cooper-Knock Johnathan, Topp Simon, van Rheenen Wouter, Kenna Brendan, van Eijk Kristel R, Kenna Kevin, Byrne Ross P, López Victoria, Opie-Martin Sarah, Vural Atay, Campos Yolanda, Weber Markus, Smith Bradley, Fogh Isabella, Silani Vincenzo, Morrison Karen E, Dobson Richard, van Es Michael A, McLaughlin Russell L, Vourc'h Patrick, Chio Adriano, Corcia Philippe, de Carvalho Mamede, Gotkine Marc, Panades Monica Povedano, Mora Jesus S, Shaw Pamela J, Landers John E, Glass Jonathan D, Shaw Christopher E, Başak Nazli, Hardiman Orla, Robberecht Wim, Van Damme Philip, van den Berg Leonard H, Veldink Jan H, Al-Chalabi Ammar
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
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
Al Khleifat A, Iacoangeli A, Van Vugt J, Bowles H, Moisse M, Zwamborn R, van der Spek R, Shatunov A, Cooper-Knock J, Topp S, Byrne R, Gellera C, López V, Jones A, Opie-Martin S, Vural A, Campos Y, van Rheenen W, Kenna B, van Eijk K, Kenna K, Weber M, Smith B, Fogh I, Silani V, Morrison K, Dobson R, van Es M, McLaughlin R, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panadés M, Mora J, Shaw P, Landers J, Glass J, Shaw C, Başak N, Hardiman O, Robberecht W, Van Damme P, van den Berg L, Veldink J, Al-Chalabi A. Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis. NPJ Genom Med 2022; 7:8.
Jan 28, 2022Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
Jan 28, 2022NPJ Genom Med 2022; 7:8
Al Khleifat Ahmad, Iacoangeli Alfredo, Van Vugt Joke J F A, Bowles Harry, Moisse Matthieu, Zwamborn Ramona A J, van der Spek Rick A A, Shatunov Aleksey, Cooper-Knock Johnathan, Topp Simon, Byrne Ross P, Gellera Cinzia, López Victoria, Jones Ashley R, Opie-Martin Sarah, Vural Atay, Campos Yolanda, van Rheenen Wouter, Kenna Brendan, van Eijk Kristel R, Kenna Kevin, Weber Markus, Smith Bradley, Fogh Isabella, Silani Vincenzo, Morrison Karen E, Dobson Richard, van Es Michael A, McLaughlin Russell L, Vourc'h Patrick, Chio Adriano, Corcia Philippe, de Carvalho Mamede, Gotkine Marc, Panadés Monica P, Mora Jesus S, Shaw Pamela J, Landers John E, Glass Jonathan D, Shaw Christopher E, Başak Nazli, Hardiman Orla, Robberecht Wim, Van Damme Philip, van den Berg Leonard H, Veldink Jan H, Al-Chalabi Ammar
Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis, but not all muscles reinnervate
Chan Y, Stålberg E, Nandedkar S, de Carvalho M, Shaw P, McDermott C, Jenkins T, Castro J, Barkhaus P, Neuwirth C, Alix J, Weber M. Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis, but not all muscles reinnervate. Muscle Nerve 2021; 65:203-210.
Nov 9, 2021Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis, but not all muscles reinnervate
Nov 9, 2021Muscle Nerve 2021; 65:203-210
Chan Young, Stålberg Erik, Nandedkar Sanjeev, de Carvalho Mamede, Shaw Pamela J, McDermott Christopher J, Jenkins Thomas M, Castro José, Barkhaus Paul E, Neuwirth Christoph, Alix James J P, Weber Markus
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
Reconsidering the causality of TIA1 mutations in ALS
Van Der Spek R, Hardiman O, Mora J, Morrison K, Mitne-Neto M, Robberecht W, Shaw P, Panadés M, Van Damme P, Silani V, Gotkine M, Weber M, van Es M, Landers J, Al-Chalabi A, van den Berg L, Veldink J, Glass J, Drory V, van Rheenen W, Pulit S, Kenna K, Ticozzi N, Kooyman M, McLaughlin R, Moisse M, van Eijk K, Van Vugt J, Andersen P, Nazli Basak A, Blair I, de Carvalho M, Chio A, Corcia P, Couratier P, PROJECT MINE ALS SEQUENCING CONSORTIUM. Reconsidering the causality of TIA1 mutations in ALS. Amyotroph Lateral Scler Frontotemporal Degener 2017:1-3.
Dec 13, 2017Reconsidering the causality of TIA1 mutations in ALS
Dec 13, 2017Amyotroph Lateral Scler Frontotemporal Degener 2017:1-3
Van Der Spek Rick A, Hardiman Orla, Mora Jesus S, Morrison Karen E, Mitne-Neto Miguel, Robberecht Wim, Shaw Pamela J, Panadés Monica P, Van Damme Philip, Silani Vincenzo, Gotkine Marc, Weber Markus, van Es Michael A, Landers John E, Al-Chalabi Ammar, van den Berg Leonard H, Veldink Jan H, Glass Jonathan D, Drory Vivian E, van Rheenen Wouter, Pulit Sara L, Kenna Kevin P, Ticozzi Nicola, Kooyman Maarten, McLaughlin Russell L, Moisse Matthieu, van Eijk Kristel R, Van Vugt Joke J F A, Andersen Peter, Nazli Basak A, Blair Ian, de Carvalho Mamede, Chio Adriano, Corcia Philippe, Couratier Phillipe, PROJECT MINE ALS SEQUENCING CONSORTIUM
Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype
Cooper-Knock J, Kirby J, McDermott C, Hautbergue G, Ince P, PROJECT MINE ALS SEQUENCING CONSORTIUM, Kazoka M, Walsh T, Higginbottom A, Heath P, Wyles M, Niedermoser I, Robins H, Shaw P. Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype. Front Mol Neurosci 2017; 10:370.
Nov 9, 2017Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype
Nov 9, 2017Front Mol Neurosci 2017; 10:370
Cooper-Knock Johnathan, Kirby Janine, McDermott Christopher J, Hautbergue Guillaume M, Ince Paul G, PROJECT MINE ALS SEQUENCING CONSORTIUM, Kazoka Mbombe, Walsh Theresa, Higginbottom Adrian, Heath Paul R, Wyles Matthew, Niedermoser Isabell, Robins Henry, Shaw Pamela J
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
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis
Diekstra F, Meininger V, Shatunov A, Shaw C, Leigh P, Shaw P, Morrison K, Fogh I, Chio A, Traynor B, Czell D, Weber M, Heutink P, de Bakker P, Silani V, Robberecht W, van den Berg L, Melki J, Van Damme P, Van Deerlin V, van Swieten J, Al-Chalabi A, Ludolph A, Weishaupt J, Hardiman O, Landers J, Brown R, van Es M, Pasterkamp R, Koppers M, Andersen P, Estrada K, Rivadeneira F, Hofman A, Uitterlinden A, Veldink J. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol 2014; 76:120-33.
Jun 27, 2014C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis
Jun 27, 2014Ann Neurol 2014; 76:120-33
Diekstra Frank P, Meininger Vincent, Shatunov Aleksey, Shaw Christopher E, Leigh P Nigel, Shaw Pamela J, Morrison Karen E, Fogh Isabella, Chio Adriano, Traynor Bryan J, Czell David, Weber Markus, Heutink Peter, de Bakker Paul I W, Silani Vincenzo, Robberecht Wim, van den Berg Leonard H, Melki Judith, Van Damme Philip, Van Deerlin Vivianna M, van Swieten John C, Al-Chalabi Ammar, Ludolph Albert C, Weishaupt Jochen H, Hardiman Orla, Landers John E, Brown Robert H, van Es Michael A, Pasterkamp R Jeroen, Koppers Max, Andersen Peter M, Estrada Karol, Rivadeneira Fernando, Hofman Albert, Uitterlinden André G, Veldink Jan H
H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis
van Rheenen W, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw P, Shaw C, Morrison K, Al-Chalabi A, Andersen P, Ludolph A, Veldink J, van der Kooi A, Schelhaas H, Waibel S, Diekstra F, van Doormaal P, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es M, van Vught P, Van Damme P, Smith B, van den Berg L. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2012; 34:1517.e5-7.
Oct 11, 2012H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis
Oct 11, 2012Neurobiol Aging 2012; 34:1517.e5-7
van Rheenen Wouter, de Visser Marianne, Weber Markus, Robberecht Wim, Hardiman Orla, Shaw Pamela J, Shaw Christopher E, Morrison Karen E, Al-Chalabi Ammar, Andersen Peter M, Ludolph Albert C, Veldink Jan H, van der Kooi Anneke J, Schelhaas H Jurgen, Waibel Stefan, Diekstra Frank P, van Doormaal Perry T C, Seelen Meinie, Kenna Kevin, McLaughlin Russell, Shatunov Aleksey, Czell David, van Es Michael A, van Vught Paul W J, Van Damme Philip, Smith Bradley N, van den Berg Leonard H
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
Shaw C, Shaw P, Robberecht W, Van Damme P, Veldink J, Van den Berg L, Ticozzi N, Taroni F, Gellera C, Silani V, Kirby J, Pall H, Morrison K, Al-Chalabi A, Weale M, Brown R, Landers J, Andersen P, Baas F, Vianney de Jong J, de Belleroche J, Morris A, Asbroek A, Schelhaas H, Scott K, Troakes C, Lee Y, Miller J, Johnson L, Topp S, Vance C, Shatunov A, Newhouse S, Jones A, Gray I, Wright J, Nestor P, Weber M, Sapp P, Lovestone S, Lupton M, Powell J, Rogelj B, Al-Sarraj S, Hortobágyi T, Smith B. The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. Eur J Hum Genet 2012; 21:102-8.
Jun 13, 2012The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
Jun 13, 2012Eur J Hum Genet 2012; 21:102-8
Shaw Christopher E, Shaw Pamela J, Robberecht Wim, Van Damme Phillip, Veldink Jan, Van den Berg Leonard, Ticozzi Nicola, Taroni Franco, Gellera Cinzia, Silani Vincenzo, Kirby Janine, Pall Hardev, Morrison Karen E, Al-Chalabi Ammar, Weale Michael E, Brown Robert H, Landers John, Andersen Peter M, Baas Frank, Vianney de Jong J M B, de Belleroche Jacqueline, Morris Alex, Asbroek Anneloor Alm Ten, Schelhaas Helenius J, Scott Kirsten M, Troakes Claire, Lee Younbok, Miller Jack, Johnson Lauren, Topp Simon, Vance Caroline, Shatunov Aleksey, Newhouse Stephen, Jones Ashley, Gray Ian, Wright Jamie, Nestor Peter J, Weber Markus, Sapp Peter C, Lovestone Simon, Lupton Michelle, Powell John, Rogelj Boris, Al-Sarraj Safa, Hortobágyi Tibor, Smith Bradley N