Literature DB >> 26945885

NEK1 mutations in familial amyotrophic lateral sclerosis.

David Brenner1, Kathrin Müller1, Thomas Wieland2, Patrick Weydt1, Sarah Böhm1, Dorothée Lulé1, Annemarie Hübers1, Christoph Neuwirth3, Markus Weber3, Guntram Borck4, Magnus Wahlqvist5, Karin M Danzer1, Alexander E Volk6, Thomas Meitinger7, Tim M Strom7, Markus Otto1, Jan Kassubek1, Albert C Ludolph1, Peter M Andersen8, Jochen H Weishaupt9.   

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Year:  2016        PMID: 26945885     DOI: 10.1093/brain/aww033

Source DB:  PubMed          Journal:  Brain        ISSN: 0006-8950            Impact factor:   13.501


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  44 in total

1.  Regulation of a distinct activated RIPK1 intermediate bridging complex I and complex II in TNFα-mediated apoptosis.

Authors:  Palak Amin; Marcus Florez; Ayaz Najafov; Heling Pan; Jiefei Geng; Dimitry Ofengeim; Slawomir A Dziedzic; Huibing Wang; Vica Jean Barrett; Yasushi Ito; Matthew J LaVoie; Junying Yuan
Journal:  Proc Natl Acad Sci U S A       Date:  2018-06-11       Impact factor: 11.205

Review 2.  High content analysis in amyotrophic lateral sclerosis.

Authors:  Federica Rinaldi; Dario Motti; Laura Ferraiuolo; Brian K Kaspar
Journal:  Mol Cell Neurosci       Date:  2016-12-11       Impact factor: 4.314

Review 3.  Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

Authors:  Ruth Chia; Adriano Chiò; Bryan J Traynor
Journal:  Lancet Neurol       Date:  2017-11-16       Impact factor: 44.182

Review 4.  Exploring the genetics and non-cell autonomous mechanisms underlying ALS/FTLD.

Authors:  Hongbo Chen; Mark W Kankel; Susan C Su; Steve W S Han; Dimitry Ofengeim
Journal:  Cell Death Differ       Date:  2018-02-19       Impact factor: 15.828

Review 5.  Alternative Splicing of ALS Genes: Misregulation and Potential Therapies.

Authors:  Benedetta Perrone; Valentina La Cognata; Teresa Sprovieri; Carmine Ungaro; Francesca Luisa Conforti; Sebastiano Andò; Sebastiano Cavallaro
Journal:  Cell Mol Neurobiol       Date:  2019-08-05       Impact factor: 5.046

6.  Meta-analysis of Genetic Modifiers Reveals Candidate Dysregulated Pathways in Amyotrophic Lateral Sclerosis.

Authors:  Katherine S Yanagi; Zhijin Wu; Joshua Amaya; Natalie Chapkis; Amanda M Duffy; Kaitlyn H Hajdarovic; Aaron Held; Arjun D Mathur; Kathryn Russo; Veronica H Ryan; Beatrice L Steinert; Joshua P Whitt; Justin R Fallon; Nicolas L Fawzi; Diane Lipscombe; Robert A Reenan; Kristi A Wharton; Anne C Hart
Journal:  Neuroscience       Date:  2019-01-01       Impact factor: 3.590

7.  NEK1 deficiency affects mitochondrial functions and the transcriptome of key DNA repair pathways.

Authors:  Mariana Bonjiorno Martins; Arina Marina Perez; Vilhelm A Bohr; David M Wilson; Jörg Kobarg
Journal:  Mutagenesis       Date:  2021-07-07       Impact factor: 3.000

8.  Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Authors:  Bradley N Smith; Simon D Topp; Claudia Fallini; Hideki Shibata; Han-Jou Chen; Claire Troakes; Andrew King; Nicola Ticozzi; Kevin P Kenna; Athina Soragia-Gkazi; Jack W Miller; Akane Sato; Diana Marques Dias; Maryangel Jeon; Caroline Vance; Chun Hao Wong; Martina de Majo; Wejdan Kattuah; Jacqueline C Mitchell; Emma L Scotter; Nicholas W Parkin; Peter C Sapp; Matthew Nolan; Peter J Nestor; Michael Simpson; Michael Weale; Monkel Lek; Frank Baas; J M Vianney de Jong; Anneloor L M A Ten Asbroek; Alberto Garcia Redondo; Jesús Esteban-Pérez; Cinzia Tiloca; Federico Verde; Stefano Duga; Nigel Leigh; Hardev Pall; Karen E Morrison; Ammar Al-Chalabi; Pamela J Shaw; Janine Kirby; Martin R Turner; Kevin Talbot; Orla Hardiman; Jonathan D Glass; Jacqueline De Belleroche; Masatoshi Maki; Stephen E Moss; Christopher Miller; Cinzia Gellera; Antonia Ratti; Safa Al-Sarraj; Robert H Brown; Vincenzo Silani; John E Landers; Christopher E Shaw
Journal:  Sci Transl Med       Date:  2017-05-03       Impact factor: 19.319

Review 9.  Dysregulated molecular pathways in amyotrophic lateral sclerosis-frontotemporal dementia spectrum disorder.

Authors:  Fen-Biao Gao; Sandra Almeida; Rodrigo Lopez-Gonzalez
Journal:  EMBO J       Date:  2017-09-15       Impact factor: 14.012

10.  NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Authors:  Kevin P Kenna; Perry T C 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 L M A 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 B 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
Journal:  Nat Genet       Date:  2016-07-25       Impact factor: 41.307

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