Literature DB >> 29235362

Reconsidering the causality of TIA1 mutations in ALS.

Rick A van der Spek1, Wouter van Rheenen1, Sara L Pulit1, Kevin P Kenna2, Nicola Ticozzi3,4, Maarten Kooyman5, Russell L Mclaughlin6, Matthieu Moisse7,8,9, Kristel R van Eijk1, Joke J F A van Vugt1, Alfredo Iacoangeli10, Peter Andersen11, A Nazli Basak12, Ian Blair13, Mamede de Carvalho14,15, Adriano Chio16,17, Philippe Corcia18,19, Phillipe Couratier18,19, Vivian E Drory20, Jonathan D Glass21,22, Orla Hardiman6,23, Jesús S Mora24, Karen E Morrison25, Miguel Mitne-Neto26, Wim Robberecht7,8,9, Pamela J Shaw27, Monica P Panadés28, Philip van Damme7,8,9, Vincenzo Silani3,4, Marc Gotkine29, Markus Weber30, Michael A van Es1, John E Landers2, Ammar Al-Chalabi31, Leonard H van den Berg1, Jan H Veldink1.   

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Year:  2017        PMID: 29235362      PMCID: PMC6516059          DOI: 10.1080/21678421.2017.1413118

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler Frontotemporal Degener        ISSN: 2167-8421            Impact factor:   4.092


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  7 in total

1.  Statistics: P values are just the tip of the iceberg.

Authors:  Jeffrey T Leek; Roger D Peng
Journal:  Nature       Date:  2015-04-30       Impact factor: 49.962

2.  TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.

Authors:  Ian R Mackenzie; Alexandra M Nicholson; Mohona Sarkar; James Messing; Maria D Purice; Cyril Pottier; Kavya Annu; Matt Baker; Ralph B Perkerson; Aishe Kurti; Billie J Matchett; Tanja Mittag; Jamshid Temirov; Ging-Yuek R Hsiung; Charles Krieger; Melissa E Murray; Masato Kato; John D Fryer; Leonard Petrucelli; Lorne Zinman; Sandra Weintraub; Marsel Mesulam; Julia Keith; Sasha A Zivkovic; Veronica Hirsch-Reinshagen; Raymond P Roos; Stephan Züchner; Neill R Graff-Radford; Ronald C Petersen; Richard J Caselli; Zbigniew K Wszolek; Elizabeth Finger; Carol Lippa; David Lacomis; Heather Stewart; Dennis W Dickson; Hong Joo Kim; Ekaterina Rogaeva; Eileen Bigio; Kevin B Boylan; J Paul Taylor; Rosa Rademakers
Journal:  Neuron       Date:  2017-08-16       Impact factor: 17.173

3.  Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.

Authors:  Elizabeth T Cirulli; Brittany N Lasseigne; Slavé Petrovski; Peter C Sapp; Patrick A Dion; Claire S Leblond; Julien Couthouis; Yi-Fan Lu; Quanli Wang; Brian J Krueger; Zhong Ren; Jonathan Keebler; Yujun Han; Shawn E Levy; Braden E Boone; Jack R Wimbish; Lindsay L Waite; Angela L Jones; John P Carulli; Aaron G Day-Williams; John F Staropoli; Winnie W Xin; Alessandra Chesi; Alya R Raphael; Diane McKenna-Yasek; Janet Cady; J M B Vianney de Jong; Kevin P Kenna; Bradley N Smith; Simon Topp; Jack Miller; Athina Gkazi; Ammar Al-Chalabi; Leonard H van den Berg; Jan Veldink; Vincenzo Silani; Nicola Ticozzi; Christopher E Shaw; Robert H Baloh; Stanley Appel; Ericka Simpson; Clotilde Lagier-Tourenne; Stefan M Pulst; Summer Gibson; John Q Trojanowski; Lauren Elman; Leo McCluskey; Murray Grossman; Neil A Shneider; Wendy K Chung; John M Ravits; Jonathan D Glass; Katherine B Sims; Vivianna M Van Deerlin; Tom Maniatis; Sebastian D Hayes; Alban Ordureau; Sharan Swarup; John Landers; Frank Baas; Andrew S Allen; Richard S Bedlack; J Wade Harper; Aaron D Gitler; Guy A Rouleau; Robert Brown; Matthew B Harms; Gregory M Cooper; Tim Harris; Richard M Myers; David B Goldstein
Journal:  Science       Date:  2015-02-19       Impact factor: 47.728

4.  Guidelines for investigating causality of sequence variants in human disease.

Authors:  D G MacArthur; T A Manolio; D P Dimmock; H L Rehm; J Shendure; G R Abecasis; D R Adams; R B Altman; S E Antonarakis; E A Ashley; J C Barrett; L G Biesecker; D F Conrad; G M Cooper; N J Cox; M J Daly; M B Gerstein; D B Goldstein; J N Hirschhorn; S M Leal; L A Pennacchio; J A Stamatoyannopoulos; S R Sunyaev; D Valle; B F Voight; W Winckler; C Gunter
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962

5.  CATH: comprehensive structural and functional annotations for genome sequences.

Authors:  Ian Sillitoe; Tony E Lewis; Alison Cuff; Sayoni Das; Paul Ashford; Natalie L Dawson; Nicholas Furnham; Roman A Laskowski; David Lee; Jonathan G Lees; Sonja Lehtinen; Romain A Studer; Janet Thornton; Christine A Orengo
Journal:  Nucleic Acids Res       Date:  2014-10-27       Impact factor: 19.160

Review 6.  Exome sequencing and complex disease: practical aspects of rare variant association studies.

Authors:  Ron Do; Sekar Kathiresan; Gonçalo R Abecasis
Journal:  Hum Mol Genet       Date:  2012-09-13       Impact factor: 6.150

7.  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

  7 in total
  9 in total

Review 1.  Relation Between Stress Granules and Cytoplasmic Protein Aggregates Linked to Neurodegenerative Diseases.

Authors:  Ioana Dobra; Serhii Pankivskyi; Anastasiia Samsonova; David Pastre; Loic Hamon
Journal:  Curr Neurol Neurosci Rep       Date:  2018-11-08       Impact factor: 5.081

Review 2.  Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Authors:  Gerald Pfeffer; Grace Lee; Carly S Pontifex; Roberto D Fanganiello; Allison Peck; Conrad C Weihl; Virginia Kimonis
Journal:  Genes (Basel)       Date:  2022-05-27       Impact factor: 4.141

3.  Recent advances in the genetics of frontotemporal dementia.

Authors:  Daniel W Sirkis; Ethan G Geier; Luke W Bonham; Celeste M Karch; Jennifer S Yokoyama
Journal:  Curr Genet Med Rep       Date:  2019-01-30

4.  Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.

Authors:  Zhiyv Niu; Carly Sabine Pontifex; Sarah Berini; Leslie E Hamilton; Elie Naddaf; Eric Wieben; Ross A Aleff; Kristina Martens; Angela Gruber; Andrew G Engel; Gerald Pfeffer; Margherita Milone
Journal:  Front Neurol       Date:  2018-03-19       Impact factor: 4.003

5.  The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public.

Authors:  Rick A A van der Spek; Wouter van Rheenen; Sara L Pulit; Kevin P Kenna; Leonard H van den Berg; Jan H Veldink
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2019-08       Impact factor: 4.092

Review 6.  The Multifunctional Faces of T-Cell Intracellular Antigen 1 in Health and Disease.

Authors:  Andrea Fernández-Gómez; José M Izquierdo
Journal:  Int J Mol Sci       Date:  2022-01-26       Impact factor: 5.923

7.  Dysregulation of RNA-Binding Proteins in Amyotrophic Lateral Sclerosis.

Authors:  Yuan Chao Xue; Chen Seng Ng; Pinhao Xiang; Huitao Liu; Kevin Zhang; Yasir Mohamud; Honglin Luo
Journal:  Front Mol Neurosci       Date:  2020-05-29       Impact factor: 5.639

Review 8.  Role and therapeutic potential of liquid-liquid phase separation in amyotrophic lateral sclerosis.

Authors:  Donya Pakravan; Gabriele Orlando; Valérie Bercier; Ludo Van Den Bosch
Journal:  J Mol Cell Biol       Date:  2021-04-10       Impact factor: 6.216

9.  Clinico-genetic findings in 509 frontotemporal dementia patients.

Authors:  Matias Wagner; Georg Lorenz; Alexander E Volk; Markus Otto; Janine Diehl-Schmid; Juliane Winkelmann; Theresa Brunet; Dieter Edbauer; Riccardo Berutti; Chen Zhao; Sarah Anderl-Straub; Lars Bertram; Adrian Danek; Marcus Deschauer; Veronika Dill; Klaus Fassbender; Klaus Fliessbach; Katharina S Götze; Holger Jahn; Johannes Kornhuber; Bernhard Landwehrmeyer; Martin Lauer; Hellmuth Obrig; Johannes Prudlo; Anja Schneider; Matthias L Schroeter; Ingo Uttner; Ruth Vukovich; Jens Wiltfang; Andrea S Winkler; Qihui Zhou; Albert C Ludolph; Konrad Oexle
Journal:  Mol Psychiatry       Date:  2021-09-24       Impact factor: 15.992

  9 in total

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