NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missen...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
25 July 2016
|
| In: |
Nature genetics
Year: 2016, Jahrgang: 48, Heft: 9, Pages: 1037-1042 |
| ISSN: | 1546-1718 |
| DOI: | 10.1038/ng.3626 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/ng.3626 Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/ng.3626 
|
| Verfasserangaben: | Kevin P Kenna, Perry TC van Doormaal, Annelot M Dekker, Nicola Ticozzi, Brendan J Kenna, Frank P Diekstra, Wouter van Rheenen, Kristel R van Eijk, Ashley R Jones, Pamela Keagle, Aleksey Shatunov, William Sproviero, Bradley N Smith, Michael A van Es, Simon D Topp, Aoife Kenna, Jack W Miller, Claudia Fallini, Cinzia Tiloca, Russell L McLaughlin, Caroline Vance, Claire Troakes, Claudia Colombrita, Gabriele Mora, Andrea Calvo, Federico Verde, Safa Al-Sarraj, Andrew King, Daniela Calini, Jacqueline de Belleroche, Frank Baas, Anneke J van der Kooi, Marianne de Visser, Anneloor LMA ten Asbroek, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, José Luis Muñoz-Blanco, Tim M Strom, Thomas Meitinger, Karen E Morrison, Giuseppe Lauria, Kelly L Williams, P Nigel Leigh, Garth A Nicholson, Ian P Blair, Claire S Leblond, Patrick A Dion, Guy A Rouleau, Hardev Pall, Pamela J Shaw, Martin R Turner, Kevin Talbot, Franco Taroni, Kevin . Boylan, Marka Van Blitterswijk, Rosa Rademakers, Jesús Esteban-Pérez, Alberto García-Redondo, Phillip Van Damme, Wim Robberecht, Adriano Chio, Cinzia Gellera, Carsten Drepper, Michael Sendtner, Antonia Ratti, Jonathan D Glass, Jesús S Mora, Nazli A Basak, Orla Hardiman, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, Robert H Brown, Ammar Al-Chalabi, Vincenzo Silani, Christopher E Shaw, Leonard H van den Berg, Jan H Veldink & John E Landers |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1760579106 | ||
| 003 | DE-627 | ||
| 005 | 20230428014437.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210616s2016 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1038/ng.3626 |2 doi | |
| 035 | |a (DE-627)1760579106 | ||
| 035 | |a (DE-599)KXP1760579106 | ||
| 035 | |a (OCoLC)1341416441 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Kenna, Kevin P. |e VerfasserIn |0 (DE-588)1235555097 |0 (DE-627)1760580805 |4 aut | |
| 245 | 1 | 0 | |a NEK1 variants confer susceptibility to amyotrophic lateral sclerosis |c Kevin P Kenna, Perry TC van Doormaal, Annelot M Dekker, Nicola Ticozzi, Brendan J Kenna, Frank P Diekstra, Wouter van Rheenen, Kristel R van Eijk, Ashley R Jones, Pamela Keagle, Aleksey Shatunov, William Sproviero, Bradley N Smith, Michael A van Es, Simon D Topp, Aoife Kenna, Jack W Miller, Claudia Fallini, Cinzia Tiloca, Russell L McLaughlin, Caroline Vance, Claire Troakes, Claudia Colombrita, Gabriele Mora, Andrea Calvo, Federico Verde, Safa Al-Sarraj, Andrew King, Daniela Calini, Jacqueline de Belleroche, Frank Baas, Anneke J van der Kooi, Marianne de Visser, Anneloor LMA ten Asbroek, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, José Luis Muñoz-Blanco, Tim M Strom, Thomas Meitinger, Karen E Morrison, Giuseppe Lauria, Kelly L Williams, P Nigel Leigh, Garth A Nicholson, Ian P Blair, Claire S Leblond, Patrick A Dion, Guy A Rouleau, Hardev Pall, Pamela J Shaw, Martin R Turner, Kevin Talbot, Franco Taroni, Kevin . Boylan, Marka Van Blitterswijk, Rosa Rademakers, Jesús Esteban-Pérez, Alberto García-Redondo, Phillip Van Damme, Wim Robberecht, Adriano Chio, Cinzia Gellera, Carsten Drepper, Michael Sendtner, Antonia Ratti, Jonathan D Glass, Jesús S Mora, Nazli A Basak, Orla Hardiman, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, Robert H Brown, Ammar Al-Chalabi, Vincenzo Silani, Christopher E Shaw, Leonard H van den Berg, Jan H Veldink & John E Landers |
| 264 | 1 | |c 25 July 2016 | |
| 300 | |a 6 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 16.06.2021 | ||
| 520 | |a Jan Veldink and colleagues show that loss-of-function variants in NEK1 are associated with susceptibility to amyotrophic lateral sclerosis (ALS). In addition to finding an excess of rare loss-of-function NEK1 variants in ALS cases, they report a significant association between a specific NEK1 missense variant (p.Arg261His) and disease risk. | ||
| 700 | 1 | |a Weishaupt, Jochen H. |d 1971- |e VerfasserIn |0 (DE-588)122148924 |0 (DE-627)705789039 |0 (DE-576)293117810 |4 aut | |
| 700 | 1 | |a Brown, Robert H. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Al-Chalabi, Ammar |e VerfasserIn |4 aut | |
| 700 | 1 | |a Silani, Vincenzo |e VerfasserIn |4 aut | |
| 700 | 1 | |a Shaw, Christopher E. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Berg, Leonard H. van den |e VerfasserIn |4 aut | |
| 700 | 1 | |a Veldink, Jan H. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Landers, John E. |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Nature genetics |d London : Macmillan Publishers Limited, part of Springer Nature, 1992 |g 48(2016), 9 vom: Sept., Seite 1037-1042 |h Online-Ressource |w (DE-627)303393734 |w (DE-600)1494946-5 |w (DE-576)080887198 |x 1546-1718 |7 nnas |a NEK1 variants confer susceptibility to amyotrophic lateral sclerosis |
| 773 | 1 | 8 | |g volume:48 |g year:2016 |g number:9 |g month:09 |g pages:1037-1042 |g extent:6 |a NEK1 variants confer susceptibility to amyotrophic lateral sclerosis |
| 856 | 4 | 0 | |u https://doi.org/10.1038/ng.3626 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.nature.com/articles/ng.3626 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20210616 | ||
| 993 | |a Article | ||
| 994 | |a 2016 | ||
| 998 | |g 122148924 |a Weishaupt, Jochen H. |m 122148924:Weishaupt, Jochen H. |p 74 | ||
| 999 | |a KXP-PPN1760579106 |e 3938792280 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"type":{"bibl":"article-journal","media":"Online-Ressource"},"language":["eng"],"physDesc":[{"extent":"6 S."}],"title":[{"title_sort":"NEK1 variants confer susceptibility to amyotrophic lateral sclerosis","title":"NEK1 variants confer susceptibility to amyotrophic lateral sclerosis"}],"person":[{"display":"Kenna, Kevin P.","given":"Kevin P.","role":"aut","family":"Kenna"},{"family":"Weishaupt","role":"aut","given":"Jochen H.","display":"Weishaupt, Jochen H."},{"display":"Brown, Robert H.","family":"Brown","role":"aut","given":"Robert H."},{"role":"aut","given":"Ammar","family":"Al-Chalabi","display":"Al-Chalabi, Ammar"},{"display":"Silani, Vincenzo","given":"Vincenzo","role":"aut","family":"Silani"},{"display":"Shaw, Christopher E.","given":"Christopher E.","role":"aut","family":"Shaw"},{"role":"aut","given":"Leonard H. van den","family":"Berg","display":"Berg, Leonard H. van den"},{"given":"Jan H.","role":"aut","family":"Veldink","display":"Veldink, Jan H."},{"display":"Landers, John E.","family":"Landers","role":"aut","given":"John E."}],"recId":"1760579106","name":{"displayForm":["Kevin P Kenna, Perry TC van Doormaal, Annelot M Dekker, Nicola Ticozzi, Brendan J Kenna, Frank P Diekstra, Wouter van Rheenen, Kristel R van Eijk, Ashley R Jones, Pamela Keagle, Aleksey Shatunov, William Sproviero, Bradley N Smith, Michael A van Es, Simon D Topp, Aoife Kenna, Jack W Miller, Claudia Fallini, Cinzia Tiloca, Russell L McLaughlin, Caroline Vance, Claire Troakes, Claudia Colombrita, Gabriele Mora, Andrea Calvo, Federico Verde, Safa Al-Sarraj, Andrew King, Daniela Calini, Jacqueline de Belleroche, Frank Baas, Anneke J van der Kooi, Marianne de Visser, Anneloor LMA ten Asbroek, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, José Luis Muñoz-Blanco, Tim M Strom, Thomas Meitinger, Karen E Morrison, Giuseppe Lauria, Kelly L Williams, P Nigel Leigh, Garth A Nicholson, Ian P Blair, Claire S Leblond, Patrick A Dion, Guy A Rouleau, Hardev Pall, Pamela J Shaw, Martin R Turner, Kevin Talbot, Franco Taroni, Kevin . Boylan, Marka Van Blitterswijk, Rosa Rademakers, Jesús Esteban-Pérez, Alberto García-Redondo, Phillip Van Damme, Wim Robberecht, Adriano Chio, Cinzia Gellera, Carsten Drepper, Michael Sendtner, Antonia Ratti, Jonathan D Glass, Jesús S Mora, Nazli A Basak, Orla Hardiman, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, Robert H Brown, Ammar Al-Chalabi, Vincenzo Silani, Christopher E Shaw, Leonard H van den Berg, Jan H Veldink & John E Landers"]},"origin":[{"dateIssuedDisp":"25 July 2016","dateIssuedKey":"2016"}],"id":{"doi":["10.1038/ng.3626"],"eki":["1760579106"]},"note":["Gesehen am 16.06.2021"],"relHost":[{"title":[{"title":"Nature genetics","title_sort":"Nature genetics"}],"language":["eng"],"pubHistory":["1.1992 -"],"physDesc":[{"extent":"Online-Ressource"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"note":["Gesehen am 02.03.05"],"titleAlt":[{"title":"Genetics"}],"part":{"pages":"1037-1042","volume":"48","text":"48(2016), 9 vom: Sept., Seite 1037-1042","extent":"6","year":"2016","issue":"9"},"id":{"eki":["303393734"],"issn":["1546-1718"],"zdb":["1494946-5"]},"origin":[{"publisherPlace":"London ; New York, NY","publisher":"Macmillan Publishers Limited, part of Springer Nature ; Nature America","dateIssuedKey":"1992","dateIssuedDisp":"1992-"}],"disp":"NEK1 variants confer susceptibility to amyotrophic lateral sclerosisNature genetics","recId":"303393734"}]} | ||
| SRT | |a KENNAKEVINNEK1VARIAN2520 | ||