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Items: 16

1.

The role of de novo mutations in the development of amyotrophic lateral sclerosis.

van Doormaal PTC, Ticozzi N, Weishaupt JH, Kenna K, Diekstra FP, Verde F, Andersen PM, Dekker AM, Tiloca C, Marroquin N, Overste DJ, Pensato V, Nürnberg P, Pulit SL, Schellevis RD, Calini D, Altmüller J, Francioli LC, Muller B, Castellotti B, Motameny S, Ratti A, Wolf J, Gellera C, Ludolph AC, van den Berg LH, Kubisch C, Landers JE, Veldink JH, Silani V, Volk AE.

Hum Mutat. 2017 Nov;38(11):1534-1541. doi: 10.1002/humu.23295. Epub 2017 Aug 3.

2.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.

Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

3.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, 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 AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE.

Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25.

4.

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers.

Dekker AM, Seelen M, van Doormaal PT, van Rheenen W, Bothof RJ, van Riessen T, Brands WJ, van der Kooi AJ, de Visser M, Voermans NC, Pasterkamp RJ, Veldink JH, van den Berg LH, van Es MA.

Neurobiol Aging. 2016 Mar;39:220.e9-15. doi: 10.1016/j.neurobiolaging.2015.12.012. Epub 2015 Dec 29.

PMID:
26777436
5.

Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis.

Huisman MH, Seelen M, van Doormaal PT, de Jong SW, de Vries JH, van der Kooi AJ, de Visser M, Schelhaas HJ, van den Berg LH, Veldink JH.

JAMA Neurol. 2015 Oct;72(10):1155-62. doi: 10.1001/jamaneurol.2015.1584.

PMID:
26280944
6.

Prior medical conditions and the risk of amyotrophic lateral sclerosis.

Seelen M, van Doormaal PT, Visser AE, Huisman MH, Roozekrans MH, de Jong SW, van der Kooi AJ, de Visser M, Voermans NC, Veldink JH, van den Berg LH.

J Neurol. 2014 Oct;261(10):1949-56. doi: 10.1007/s00415-014-7445-1. Epub 2014 Jul 25.

PMID:
25059395
7.

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.

van Doormaal PT, Ticozzi N, Gellera C, Ratti A, Taroni F, Chiò A, Calvo A, Mora G, Restagno G, Traynor BJ, Birve A, Lemmens R, van Es MA, Saris CG, Blauw HM, van Vught PW, Groen EJ, Corrado L, Mazzini L, Del Bo R, Corti S, Waibel S, Meyer T, Ludolph AC, Goris A, van Damme P, Robberecht W, Shatunov A, Fogh I, Andersen PM, D'Alfonso S, Hardiman O, Cronin S, Rujescu D, Al-Chalabi A, Landers JE, Silani V, van den Berg LH, Veldink JH.

Neurobiol Aging. 2014 Oct;35(10):2420.e13-4. doi: 10.1016/j.neurobiolaging.2014.04.014. Epub 2014 Apr 19.

8.

Amyotrophic lateral sclerosis is not linked to multiple sclerosis in a population based study.

van Doormaal PT, Gallo A, van Rheenen W, Veldink JH, van Es MA, van den Berg LH.

J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):940-1. doi: 10.1136/jnnp-2012-304864. Epub 2013 Apr 17. No abstract available.

PMID:
23595949
9.

Lifetime physical activity and the risk of amyotrophic lateral sclerosis.

Huisman MH, Seelen M, de Jong SW, Dorresteijn KR, van Doormaal PT, van der Kooi AJ, de Visser M, Schelhaas HJ, van den Berg LH, Veldink JH.

J Neurol Neurosurg Psychiatry. 2013 Sep;84(9):976-81. doi: 10.1136/jnnp-2012-304724. Epub 2013 Feb 16.

PMID:
23418211
10.

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis.

van Rheenen W, Diekstra FP, van Doormaal PT, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es MA, van Vught PW, van Damme P, Smith BN, Waibel S, Schelhaas HJ, van der Kooi AJ, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw PJ, Shaw CE, Morrison KE, Al-Chalabi A, Andersen PM, Ludolph AC, Veldink JH, van den Berg LH.

Neurobiol Aging. 2013 May;34(5):1517.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.020. Epub 2012 Oct 11.

PMID:
23063643
11.

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.

van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH.

Neurology. 2012 Aug 28;79(9):878-82. doi: 10.1212/WNL.0b013e3182661d14. Epub 2012 Jul 25.

PMID:
22843265
12.

UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands.

van Doormaal PT, van Rheenen W, van Blitterswijk M, Schellevis RD, Schelhaas HJ, de Visser M, van der Kooi AJ, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Sep;33(9):2233.e7-2233.e8. doi: 10.1016/j.neurobiolaging.2012.02.032. Epub 2012 Jun 5.

PMID:
22676852
13.

CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis.

Groen EJ, van Rheenen W, Koppers M, van Doormaal PT, Vlam L, Diekstra FP, Dooijes D, Pasterkamp RJ, van den Berg LH, Veldink JH.

Neurobiol Aging. 2012 Aug;33(8):1852.e1-3. doi: 10.1016/j.neurobiolaging.2012.03.007. Epub 2012 Apr 15.

PMID:
22507827
14.

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology.

Huisman MH, de Jong SW, van Doormaal PT, Weinreich SS, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

J Neurol Neurosurg Psychiatry. 2011 Oct;82(10):1165-70. doi: 10.1136/jnnp.2011.244939. Epub 2011 May 27.

PMID:
21622937
15.

High-flow extracranial-to-intracranial excimer laser-assisted nonocclusive anastomosis bypass for symptomatic carotid artery occlusion.

van Doormaal TP, Klijn CJ, van Doormaal PT, Kappelle LJ, Regli L, Tulleken CA, van der Zwan A.

Neurosurgery. 2011 Jun;68(6):1687-94; discussion 1694. doi: 10.1227/NEU.0b013e318214e2e7.

PMID:
21389885
16.

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

van Es MA, Veldink JH, Saris CG, Blauw HM, van Vught PW, Birve A, Lemmens R, Schelhaas HJ, Groen EJ, Huisman MH, van der Kooi AJ, de Visser M, Dahlberg C, Estrada K, Rivadeneira F, Hofman A, Zwarts MJ, van Doormaal PT, Rujescu D, Strengman E, Giegling I, Muglia P, Tomik B, Slowik A, Uitterlinden AG, Hendrich C, Waibel S, Meyer T, Ludolph AC, Glass JD, Purcell S, Cichon S, Nöthen MM, Wichmann HE, Schreiber S, Vermeulen SH, Kiemeney LA, Wokke JH, Cronin S, McLaughlin RL, Hardiman O, Fumoto K, Pasterkamp RJ, Meininger V, Melki J, Leigh PN, Shaw CE, Landers JE, Al-Chalabi A, Brown RH Jr, Robberecht W, Andersen PM, Ophoff RA, van den Berg LH.

Nat Genet. 2009 Oct;41(10):1083-7. doi: 10.1038/ng.442. Epub 2009 Sep 6.

PMID:
19734901

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