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Items: 1 to 20 of 443

1.

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Gijselinck I, Engelborghs S, Maes G, Cuijt I, Peeters K, Mattheijssens M, Joris G, Cras P, Martin JJ, De Deyn PP, Kumar-Singh S, Van Broeckhoven C, Cruts M.

Arch Neurol. 2010 May;67(5):606-16. doi: 10.1001/archneurol.2010.82.

PMID:
20457961
2.

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

Gijselinck I, Van Langenhove T, van der Zee J, Sleegers K, Philtjens S, Kleinberger G, Janssens J, Bettens K, Van Cauwenberghe C, Pereson S, Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Bäumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens M, Peeters K, Robberecht W, Cras P, Martin JJ, De Deyn PP, Cruts M, Van Broeckhoven C.

Lancet Neurol. 2012 Jan;11(1):54-65. doi: 10.1016/S1474-4422(11)70261-7. Epub 2011 Dec 7. Erratum in: Lancet Neurol. 2012 Feb;11(2):125.

PMID:
22154785
3.

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia.

Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, de Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH Jr.

Neurology. 2006 Mar 28;66(6):839-44. Epub 2006 Jan 18.

PMID:
16421333
4.

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, Strong M, Rouleau GA.

Arch Neurol. 2007 Feb;64(2):240-5. Erratum in: Arch Neurol. 2007 Jun;64(6):909. Salachas, François [added].

PMID:
17296840
5.

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.

Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerrière A, Golfier V, Seilhean D, Viennet G, Couratier P, Verpillat P, Heath S, Camu W, Martinaud O, Lacomblez L, Vercelletto M, Salachas F, Sellal F, Didic M, Thomas-Anterion C, Puel M, Michel BF, Besse C, Duyckaerts C, Meininger V, Campion D, Dubois B, Brice A; French Research Network on FTD/FTD-MND.

Neurology. 2009 May 12;72(19):1669-76. doi: 10.1212/WNL.0b013e3181a55f1c.

PMID:
19433740
6.
7.

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, Flanigan KM.

Neuromuscul Disord. 2009 Apr;19(4):279-87. doi: 10.1016/j.nmd.2009.02.006. Epub 2009 Mar 21.

PMID:
19318250
8.

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, Brice A; French clinical and genetic research network on FTD/FTD-MND.

J Alzheimers Dis. 2010;22(3):765-9.

PMID:
21158017
9.

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

Luty AA, Kwok JB, Thompson EM, Blumbergs P, Brooks WS, Loy CT, Dobson-Stone C, Panegyres PK, Hecker J, Nicholson GA, Halliday GM, Schofield PR.

BMC Neurol. 2008 Aug 29;8:32. doi: 10.1186/1471-2377-8-32.

10.

A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration.

Nakamura M, Bieniek KF, Lin WL, Graff-Radford NR, Murray ME, Castanedes-Casey M, Desaro P, Baker MC, Rutherford NJ, Robertson J, Rademakers R, Dickson DW, Boylan KB.

Acta Neuropathol. 2015 Jul;130(1):145-57. doi: 10.1007/s00401-015-1431-2. Epub 2015 Apr 28.

11.

Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers.

Rosen DR, Sapp P, O'Regan J, McKenna-Yasek D, Schlumpf KS, Haines JL, Gusella JF, Horvitz HR, Brown RH Jr.

Am J Med Genet. 1994 May 15;51(1):61-9.

PMID:
7913294
12.

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy.

Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurrò MR, Muglia M, Quattrone A.

Neuromuscul Disord. 2008 Jan;18(1):68-70. Epub 2007 Aug 20.

PMID:
17703939
13.

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.

Lattante S, Le Ber I, Camuzat A, Pariente J, Brice A, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurobiol Aging. 2013 Aug;34(8):2078.e5-6. doi: 10.1016/j.neurobiolaging.2013.03.002. Epub 2013 Apr 10.

PMID:
23582661
14.

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.

Collins M, Riascos D, Kovalik T, An J, Krupa K, Krupa K, Hood BL, Conrads TP, Renton AE, Traynor BJ, Bowser R.

Acta Neuropathol. 2012 Nov;124(5):717-32. doi: 10.1007/s00401-012-1045-x. Epub 2012 Sep 21.

15.

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin JJ, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B.

Brain. 2006 Apr;129(Pt 4):841-52. Epub 2006 Feb 22.

PMID:
16495329
16.

Progranulin genetic variability contributes to amyotrophic lateral sclerosis.

Sleegers K, Brouwers N, Maurer-Stroh S, van Es MA, Van Damme P, van Vught PW, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg LH, Robberecht W, Van Broeckhoven C.

Neurology. 2008 Jul 22;71(4):253-9. doi: 10.1212/01.wnl.0000289191.54852.75. Epub 2008 Jan 9.

PMID:
18184915
17.

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.

Dobson-Stone C, Luty AA, Thompson EM, Blumbergs P, Brooks WS, Short CL, Field CD, Panegyres PK, Hecker J, Solski JA, Blair IP, Fullerton JM, Halliday GM, Schofield PR, Kwok JB.

Acta Neuropathol. 2013 Apr;125(4):523-33. doi: 10.1007/s00401-013-1078-9. Epub 2013 Jan 22.

18.

Neuronal death in amyotrophic lateral sclerosis (ALS): what can we learn from genetics?

Sreedharan J.

CNS Neurol Disord Drug Targets. 2010 Jul;9(3):259-67. Review.

PMID:
20406185
19.

Lower motor neuron involvement in TAR DNA-binding protein of 43 kDa-related frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Riku Y, Watanabe H, Yoshida M, Tatsumi S, Mimuro M, Iwasaki Y, Katsuno M, Iguchi Y, Masuda M, Senda J, Ishigaki S, Udagawa T, Sobue G.

JAMA Neurol. 2014 Feb;71(2):172-9. doi: 10.1001/jamaneurol.2013.5489.

PMID:
24378564
20.

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis.

Rollinson S, Mead S, Snowden J, Richardson A, Rohrer J, Halliwell N, Usher S, Neary D, Mann D, Hardy J, Pickering-Brown S.

Neurobiol Aging. 2011 Apr;32(4):758.e1-7. doi: 10.1016/j.neurobiolaging.2010.12.005. Epub 2011 Jan 22.

PMID:
21257233

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