NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a novel screening strategy, gene burden analyses trained with established ALS genes revealed a significant association be...

Descripció completa

Dades bibliogràfiques
Autors principals:	Kenna, P, van Doormaal PTC, P, Dekker, A, Ticozzi, N, Kenna, B, Diekstra, F, van Rheenen, W, van Eijk, K, Jones, A, Keagle, P, Shatunov, A, Sproviero, W, Smith, B, van Es, M, Topp, S, Kenna, A, Miller, J, Fallini, C, Tiloca, C, McLaughlin, R, Vance, C, Troakes, C, Colombrita, C, Mora, G, Calvo, A, Verde, F, Al-Sarraj, S, King, A, Calini, D, de Belleroche, J, Baas, F, van der Kooi, A, de Visser, M, ten Asbroek, A, Sapp, P, McKenna-Yasek, D, Polak, M, Asress, S, Munoz-Blanco, J, SLAGEN Consortium, Lauria, G, Williams, K, Leigh, P, Nicholson, G, Blair, I, Leblond, C, Dion, P, Rouleau, G, Pall, H, Shaw, P, Turner, M, Talbot, K, Taroni, F, Boylan, K, Van Blitterswijk, M, Rademakers, R, Esteban-Perez, J, Garcia-Redondo, A, Van Damme, P, Robberecht, W, Chio, A, Gellera, C, Drepper, C, Sendtner, M, Ratti, A, Glass, J, Mora, J, Basak, A, Hardiman, O, Ludolph, A, Andersen, P, Wesihaupt, J, Brown, R, Al-Chalabi, A, Silani, V, Shaw, C, van den Berg, L, Veldink, J, Landers, J
Format:	Journal article
Publicat:	Nature Publishing Group 2016

Ítems similars

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
per: Smith, B, et al.
Publicat: (2014)

Soil is a major contributor to global greenhouse gas emissions and climate change
per: P. M. Kopittke, et al.
Publicat: (2024-12-01)

Patients’ gut feelings seem useful in primary care professionals’ decision making
per: C. F. Stolper, et al.
Publicat: (2022-07-01)

Simulation of tropospheric chemistry and aerosols with the climate model EC-Earth
per: T. P. C. van Noije, et al.
Publicat: (2014-10-01)

Can optical spectral transmission assess ultrasound-detected synovitis in hand osteoarthritis?
per: N J Besselink, et al.
Publicat: (2019-01-01)

Assessment of calculation methods for calcium carbonate saturation in drinking water for DIN 38404-10 compliance
per: P. J. de Moel, et al.
Publicat: (2013-11-01)

Bovine <named-content content-type="genus-species">Staphylococcus aureus</named-content> Secretes the Leukocidin LukMF′ To Kill Migrating Neutrophils through CCR1
per: M. Vrieling, et al.
Publicat: (2015-07-01)

Somatostatin does not attenuate intestinal injury in dextran sodium sulphate-induced subacute colitis
per: J. D. van Bergeijk, et al.
Publicat: (1998-01-01)

Simultaneous assimilation of ozone profiles from multiple UV-VIS satellite instruments
per: J. C. A. van Peet, et al.
Publicat: (2018-02-01)

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.
per: Mogensen, J, et al.
Publicat: (2004)

P5.08 NORMALISATION FOR WALL SHEAR STRESS STIMULUS IMPROVES ACCURACY IN THE ASSESSMENT OF GLUCOSE-INDUCED CHANGES IN FLOW-MEDIATED DILATION
per: F.C.G. van Bussel, et al.
Publicat: (2011-11-01)

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
per: Akimoto, C, et al.
Publicat: (2014)

Multiplex PCR test as an intra-operative diagnostic tool for periprosthetic joint infection in presumed aseptic revision hip and knee arthroplasty: a 1-year follow-up study of 200 cases
per: T. J. A. van Schaik, et al.
Publicat: (2024-01-01)

Intestinal permeability and contractility in murine colitis
per: M. E. van Meeteren, et al.
Publicat: (1998-01-01)

Changes in Eicosanoid and Tumour Necrosis Factor-α Production by Rat Peritoneal Macrophages During Carrageenin-Induced Peritonitis
per: W. M. Pruimboom, et al.
Publicat: (1994-01-01)

Toroidal CO<sub>2</sub> Plasma Sources with Low- and High-Frequency Power Coupling Configurations for Improved Energy Transfer Efficiencies
per: E. J. Devid, et al.
Publicat: (2024-07-01)

Effects of Calliandra and Sesbania on Daily Milk Production in Dairy Cows on Commercial Smallholder Farms in Kenya
per: D. N. Makau, et al.
Publicat: (2020-01-01)

Design of the SALT Osteoporosis Study: a randomised pragmatic trial, to study a primary care screening and treatment program for the prevention of fractures in women aged 65 years or older
per: P. J. M. Elders, et al.
Publicat: (2017-10-01)

Acute phase responses induced in dwarf goats by r.BolL−1β, r.BolL−2 and r.BolFN−γ
per: C. T. M. van Duin, et al.
Publicat: (1992-01-01)

Pulsed processing by cold plasma, applied to industrial emission control
per: E. J. M. Van Heesch, et al.
Publicat: (2024-06-01)

Comparing the influence of mixed reality, a 3D viewer, and MRI on the spatial understanding of brain tumours
per: T. Fick, et al.
Publicat: (2023-08-01)

High frequency oscillations and high frequency functional network characteristics in the intraoperative electrocorticogram in epilepsy
per: W.J.E.M. Zweiphenning, et al.
Publicat: (2016-01-01)

Suppression of T cells by mesenchymal and cardiac progenitor cells is partly mediated via extracellular vesicles
per: F. van den Akker, et al.
Publicat: (2018-06-01)

Inhibition of the production of mediators of inflammation by corticosteroids is a glucocorticoid receptor-mediated process
per: G. S. Madretsma, et al.
Publicat: (1996-01-01)

Corrigendum: Dose reduction of biologics in patients with plaque psoriasis: a review
per: C. A. M. van Riel, et al.
Publicat: (2024-10-01)

Dose reduction of biologics in patients with plaque psoriasis: a review
per: C. A. M. van Riel, et al.
Publicat: (2024-03-01)

Help-seeking by substance dependants presenting to healthcare professionals in the Free State Province
per: P M van Zyl, et al.
Publicat: (2012-08-01)

Microbial DNA extraction method for avian feces and preen oil from diverse species
per: Austin C. Russell, et al.
Publicat: (2024-09-01)

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis
per: Smith, B, et al.
Publicat: (2017)

Identifying the relationship between postoperative urinary continence and residual urethra stump measurements in robot assisted radical prostatectomy patients
per: A.J.W. Beulens, et al.
Publicat: (2020-11-01)

Multi Parameter Flow Cytometric Assessment of Regenerative Epidermis with Special Reference to the Antiproliferative Effect of Occlusion
per: M. M. van Rossum, et al.
Publicat: (1998-01-01)

Sexual, addiction and mental health care needs among men who have sex with men practicing chemsex – a cross-sectional study in the Netherlands
per: Y.J. Evers, et al.
Publicat: (2020-06-01)

Cone-Beam CT-based position verification for oesophageal cancer: Evaluation of registration methods and anatomical changes during radiotherapy
per: A. van Nunen, et al.
Publicat: (2017-09-01)

Geoportals: An Internet Marketing Perspective
per: P A J. van Oort, et al.
Publicat: (2009-05-01)

Relating Agulhas leakage to the Agulhas Current retroflection location
per: E. van Sebille, et al.
Publicat: (2009-11-01)

Serum Potassium and Mortality Risk in Hemodialysis Patients: A Cohort StudyPlain-Language Summary
per: Esther N.M. de Rooij, et al.
Publicat: (2022-01-01)

Implementation of a program to support direct support professionals to promote a healthy lifestyle for people with moderate to profound intellectual disabilities
per: A. Overwijk, et al.
Publicat: (2022-01-01)

Circulating endothelial cells transiently increase in peripheral blood after kidney transplantation
per: H. Tejeda-Mora, et al.
Publicat: (2021-04-01)

Evaluation of methodological aspects of digestibility measurements in ponies fed different haylage to concentrate ratios
per: F.J.W.C. Schaafstra, et al.
Publicat: (2017-01-01)

Drainage effects on the transient, near-surface hydrologic response of a steep hillslope to rainfall: implications for slope stability, Edmonds, Washington, USA
per: G. Biavati, et al.
Publicat: (2006-01-01)