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Items: 1 to 20 of 126

1.

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.

2.

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.

3.

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
4.

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
5.

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.

Neurobiol Aging. 2011 Mar;32(3):553.e13-21. doi: 10.1016/j.neurobiolaging.2010.04.009. Epub 2010 May 15.

PMID:
20472325
6.

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
7.

Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.

Hou L, Jiao B, Xiao T, Zhou L, Zhou Z, Du J, Yan X, Wang J, Tang B, Shen L.

Sci Rep. 2016 Sep 8;6:32478. doi: 10.1038/srep32478.

8.

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
9.

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.

10.

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.

11.

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.

12.

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
13.

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.

14.

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population.

Vrabec K, Koritnik B, Leonardis L, Dolenc-Grošelj L, Zidar J, Smith B, Vance C, Shaw C, Rogelj B, Glavač D, Ravnik-Glavač M.

Neurobiol Aging. 2015 Mar;36(3):1601.e17-20. doi: 10.1016/j.neurobiolaging.2014.11.011. Epub 2014 Dec 18.

PMID:
25585530
15.

Evidence for an oligogenic basis of amyotrophic lateral sclerosis.

van Blitterswijk M, van Es MA, Hennekam EA, Dooijes D, van Rheenen W, Medic J, Bourque PR, Schelhaas HJ, van der Kooi AJ, de Visser M, de Bakker PI, Veldink JH, van den Berg LH.

Hum Mol Genet. 2012 Sep 1;21(17):3776-84. doi: 10.1093/hmg/dds199. Epub 2012 May 29.

PMID:
22645277
16.

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.

Marjanović IV, Selak-Djokić B, Perić S, Janković M, Arsenijević V, Basta I, Lavrnić D, Stefanova E, Stević Z.

J Neurol. 2017 Jun;264(6):1091-1098. doi: 10.1007/s00415-017-8495-y. Epub 2017 Apr 25.

PMID:
28444446
17.

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.

Millecamps S, Boillée S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Cazeneuve C, Leguern E, Meininger V, Salachas F.

J Med Genet. 2012 Apr;49(4):258-63. doi: 10.1136/jmedgenet-2011-100699.

PMID:
22499346
18.

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Nalls MA, Arepalli S, Chong S, Hernandez DG, Traynor BJ, Restagno G; Italian Amyotrophic Lateral Sclerosis Genetic (ITALSGEN) Consortium.

Arch Neurol. 2011 May;68(5):594-8. doi: 10.1001/archneurol.2010.352. Epub 2011 Jan 10.

19.

[Gene mutations in familial amyotrophic lateral sclerosis].

Oda M, Izumi Y, Kaji R.

Brain Nerve. 2011 Feb;63(2):165-70. Review. Japanese.

PMID:
21301041
20.

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease.

Lattante S, Conte A, Zollino M, Luigetti M, Del Grande A, Marangi G, Romano A, Marcaccio A, Meleo E, Bisogni G, Rossini PM, Sabatelli M.

Neurology. 2012 Jul 3;79(1):66-72. doi: 10.1212/WNL.0b013e31825dceca. Epub 2012 Jun 20.

PMID:
22722621

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