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Items: 1 to 20 of 137

1.

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, Blumbergs PC, Vucic S, Kiernan MC, Nicholson GA.

J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):639-45. doi: 10.1136/jnnp.2009.194399. Epub 2009 Dec 3.

PMID:
19965854
2.

FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis.

Deng HX, Zhai H, Bigio EH, Yan J, Fecto F, Ajroud K, Mishra M, Ajroud-Driss S, Heller S, Sufit R, Siddique N, Mugnaini E, Siddique T.

Ann Neurol. 2010 Jun;67(6):739-48. doi: 10.1002/ana.22051.

3.

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.

J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24.

4.

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ.

Ann Neurol. 2007 May;61(5):427-34.

PMID:
17469116
5.

Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.

Zou ZY, Liu MS, Li XG, Cui LY.

Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):249-52. doi: 10.3109/21678421.2016.1143012. Epub 2016 Mar 14.

PMID:
26972116
6.

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Bertolin C, D'Ascenzo C, Querin G, Gaiani A, Boaretto F, Salvoro C, Vazza G, Angelini C, Cagnin A, Pegoraro E, Sorarù G, Mostacciuolo ML.

Neurobiol Aging. 2014 May;35(5):1212.e7-1212.e10. doi: 10.1016/j.neurobiolaging.2013.10.093. Epub 2013 Oct 29.

PMID:
24325798
7.

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation.

King A, Troakes C, Smith B, Nolan M, Curran O, Vance C, Shaw CE, Al-Sarraj S.

Acta Neuropathol Commun. 2015 Oct 9;3:62. doi: 10.1186/s40478-015-0235-x.

8.

Extensive genetics of ALS: a population-based study in Italy.

Chiò A, Calvo A, Mazzini L, Cantello R, Mora G, Moglia C, Corrado L, D'Alfonso S, Majounie E, Renton A, Pisano F, Ossola I, Brunetti M, Traynor BJ, Restagno G; PARALS.

Neurology. 2012 Nov 6;79(19):1983-9. doi: 10.1212/WNL.0b013e3182735d36. Epub 2012 Oct 24.

9.

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS.

Kwon MJ, Baek W, Ki CS, Kim HY, Koh SH, Kim JW, Kim SH.

Neurobiol Aging. 2012 May;33(5):1017.e17-23. doi: 10.1016/j.neurobiolaging.2011.12.003. Epub 2012 Jan 15.

PMID:
22244934
10.

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.

Mackenzie IR, Ansorge O, Strong M, Bilbao J, Zinman L, Ang LC, Baker M, Stewart H, Eisen A, Rademakers R, Neumann M.

Acta Neuropathol. 2011 Jul;122(1):87-98. doi: 10.1007/s00401-011-0838-7. Epub 2011 May 21.

11.

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.

Brown JA, Min J, Staropoli JF, Collin E, Bi S, Feng X, Barone R, Cao Y, O'Malley L, Xin W, Mullen TE, Sims KB.

Amyotroph Lateral Scler. 2012 Feb;13(2):217-22. doi: 10.3109/17482968.2011.643899.

PMID:
22292843
12.

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

DeJesus-Hernandez M, Kocerha J, Finch N, Crook R, Baker M, Desaro P, Johnston A, Rutherford N, Wojtas A, Kennelly K, Wszolek ZK, Graff-Radford N, Boylan K, Rademakers R.

Hum Mutat. 2010 May;31(5):E1377-89. doi: 10.1002/humu.21241.

13.

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation.

Tateishi T, Hokonohara T, Yamasaki R, Miura S, Kikuchi H, Iwaki A, Tashiro H, Furuya H, Nagara Y, Ohyagi Y, Nukina N, Iwaki T, Fukumaki Y, Kira J.

Acta Neuropathol. 2010 Mar;119(3):355-64. doi: 10.1007/s00401-009-0621-1. Epub 2009 Dec 5.

PMID:
19967541
14.

Genetic overlap between apparently sporadic motor neuron diseases.

van Blitterswijk M, Vlam L, van Es MA, van der Pol WL, Hennekam EA, Dooijes D, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

PLoS One. 2012;7(11):e48983. doi: 10.1371/journal.pone.0048983. Epub 2012 Nov 14.

15.

Aberrant localization of FUS and TDP43 is associated with misfolding of SOD1 in amyotrophic lateral sclerosis.

Pokrishevsky E, Grad LI, Yousefi M, Wang J, Mackenzie IR, Cashman NR.

PLoS One. 2012;7(4):e35050. doi: 10.1371/journal.pone.0035050. Epub 2012 Apr 6.

16.

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

Hewitt C, Kirby J, Highley JR, Hartley JA, Hibberd R, Hollinger HC, Williams TL, Ince PG, McDermott CJ, Shaw PJ.

Arch Neurol. 2010 Apr;67(4):455-61. doi: 10.1001/archneurol.2010.52.

PMID:
20385912
17.

Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.

Chiò A, Calvo A, Moglia C, Restagno G, Ossola I, Brunetti M, Montuschi A, Cistaro A, Ticca A, Traynor BJ, Schymick JC, Mutani R, Marrosu MG, Murru MR, Borghero G.

Arch Neurol. 2010 Aug;67(8):1002-9. doi: 10.1001/archneurol.2010.173.

18.

FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis.

Kabashi E, Bercier V, Lissouba A, Liao M, Brustein E, Rouleau GA, Drapeau P.

PLoS Genet. 2011 Aug;7(8):e1002214. doi: 10.1371/journal.pgen.1002214. Epub 2011 Aug 4.

19.

Rab1-dependent ER-Golgi transport dysfunction is a common pathogenic mechanism in SOD1, TDP-43 and FUS-associated ALS.

Soo KY, Halloran M, Sundaramoorthy V, Parakh S, Toth RP, Southam KA, McLean CA, Lock P, King A, Farg MA, Atkin JD.

Acta Neuropathol. 2015 Nov;130(5):679-97. doi: 10.1007/s00401-015-1468-2. Epub 2015 Aug 23.

PMID:
26298469
20.

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis.

Rademakers R, Stewart H, Dejesus-Hernandez M, Krieger C, Graff-Radford N, Fabros M, Briemberg H, Cashman N, Eisen A, Mackenzie IR.

Muscle Nerve. 2010 Aug;42(2):170-6. doi: 10.1002/mus.21665.

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