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Items: 1 to 20 of 100

1.

UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.

Placek K, Baer GM, Elman L, McCluskey L, Hennessy L, Ferraro PM, Lee EB, Lee VMY, Trojanowski JQ, Van Deerlin VM, Grossman M, Irwin DJ, McMillan CT.

Neurobiol Aging. 2018 Sep 27;73:190-199. doi: 10.1016/j.neurobiolaging.2018.09.031. [Epub ahead of print]

PMID:
30368160
2.

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

Diekstra FP, Van Deerlin VM, van Swieten JC, Al-Chalabi A, Ludolph AC, Weishaupt JH, Hardiman O, Landers JE, Brown RH Jr, van Es MA, Pasterkamp RJ, Koppers M, Andersen PM, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, van Damme P, Melki J, Meininger V, Shatunov A, Shaw CE, Leigh PN, Shaw PJ, Morrison KE, Fogh I, Chiò A, Traynor BJ, Czell D, Weber M, Heutink P, de Bakker PI, Silani V, Robberecht W, van den Berg LH, Veldink JH.

Ann Neurol. 2014 Jul;76(1):120-33. doi: 10.1002/ana.24198. Epub 2014 Jun 27.

3.

Longitudinal imaging in C9orf72 mutation carriers: Relationship to phenotype.

Floeter MK, Bageac D, Danielian LE, Braun LE, Traynor BJ, Kwan JY.

Neuroimage Clin. 2016 Oct 22;12:1035-1043. eCollection 2016.

4.

UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort.

Vidal-Taboada JM, Lopez-Lopez A, Salvado M, Lorenzo L, Garcia C, Mahy N, Rodríguez MJ, Gamez J.

J Neurol. 2015 Oct;262(10):2285-92. doi: 10.1007/s00415-015-7843-z. Epub 2015 Jul 11.

5.

UNC13A is a modifier of survival in amyotrophic lateral sclerosis.

Diekstra FP, van Vught PW, van Rheenen W, Koppers M, Pasterkamp RJ, van Es MA, Schelhaas HJ, de Visser M, Robberecht W, Van Damme P, Andersen PM, van den Berg LH, Veldink JH.

Neurobiol Aging. 2012 Mar;33(3):630.e3-8. doi: 10.1016/j.neurobiolaging.2011.10.029. Epub 2011 Nov 25.

PMID:
22118904
6.

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.

Karch CM, Wen N, Fan CC, Yokoyama JS, Kouri N, Ross OA, Höglinger G, Müller U, Ferrari R, Hardy J, Schellenberg GD, Sleiman PM, Momeni P, Hess CP, Miller BL, Sharma M, Van Deerlin V, Smeland OB, Andreassen OA, Dale AM, Desikan RS; International Frontotemporal Dementia (FTD)–Genomics Consortium, International Collaboration for Frontotemporal Dementia, Progressive Supranuclear Palsy (PSP) Genetics Consortium, and International Parkinson’s Disease Genomics Consortium.

JAMA Neurol. 2018 Jul 1;75(7):860-875. doi: 10.1001/jamaneurol.2018.0372.

7.

Pathologic Involvement of Glutamatergic Striatal Inputs From the Cortices in TAR DNA-Binding Protein 43 kDa-Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis.

Riku Y, Watanabe H, Yoshida M, Mimuro M, Iwasaki Y, Masuda M, Ishigaki S, Katsuno M, Sobue G.

J Neuropathol Exp Neurol. 2017 Sep 1;76(9):759-768. doi: 10.1093/jnen/nlx055.

PMID:
28859339
8.

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
9.

Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.

Schönecker S, Neuhofer C, Otto M, Ludolph A, Kassubek J, Landwehrmeyer B, Anderl-Straub S, Semler E, Diehl-Schmid J, Prix C, Vollmar C, Fortea J; Deutsches FTLD-Konsortium, Huppertz HJ, Arzberger T, Edbauer D, Feddersen B, Dieterich M, Schroeter ML, Volk AE, Fließbach K, Schneider A, Kornhuber J, Maler M, Prudlo J, Jahn H, Boeckh-Behrens T, Danek A, Klopstock T, Levin J.

Front Aging Neurosci. 2018 Mar 15;10:45. doi: 10.3389/fnagi.2018.00045. eCollection 2018.

10.

Involvement of the caudate nucleus head and its networks in sporadic amyotrophic lateral sclerosis-frontotemporal dementia continuum.

Masuda M, Senda J, Watanabe H, Epifanio B, Tanaka Y, Imai K, Riku Y, Li Y, Nakamura R, Ito M, Ishigaki S, Atsuta N, Koike H, Katsuno M, Hattori N, Naganawa S, Sobue G.

Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17(7-8):571-579. Epub 2016 Aug 10. Erratum in: Amyotroph Lateral Scler Frontotemporal Degener. 2016 Oct - Nov;17 (7-8):x.

PMID:
27684890
11.

UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.

Chiò A, Mora G, Restagno G, Brunetti M, Ossola I, Barberis M, Ferrucci L, Canosa A, Manera U, Moglia C, Fuda G, Traynor BJ, Calvo A.

Neurobiol Aging. 2013 Jan;34(1):357.e1-5. doi: 10.1016/j.neurobiolaging.2012.07.016. Epub 2012 Aug 22.

12.

Clinical and neuropathological features of ALS/FTD with TIA1 mutations.

Hirsch-Reinshagen V, Pottier C, Nicholson AM, Baker M, Hsiung GR, Krieger C, Sengdy P, Boylan KB, Dickson DW, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, Zivkovic SA, Lacomis D, Taylor JP, Rademakers R, Mackenzie IRA.

Acta Neuropathol Commun. 2017 Dec 7;5(1):96. doi: 10.1186/s40478-017-0493-x.

13.

Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis.

D'Amico E, Factor-Litvak P, Santella RM, Mitsumoto H.

Free Radic Biol Med. 2013 Dec;65:509-527. doi: 10.1016/j.freeradbiomed.2013.06.029. Epub 2013 Jun 21. Review.

14.

Grey and white matter changes across the amyotrophic lateral sclerosis-frontotemporal dementia continuum.

Lillo P, Mioshi E, Burrell JR, Kiernan MC, Hodges JR, Hornberger M.

PLoS One. 2012;7(8):e43993. doi: 10.1371/journal.pone.0043993. Epub 2012 Aug 29.

15.

Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis.

Vass R, Ashbridge E, Geser F, Hu WT, Grossman M, Clay-Falcone D, Elman L, McCluskey L, Lee VM, Van Deerlin VM, Trojanowski JQ, Chen-Plotkin AS.

Acta Neuropathol. 2011 Mar;121(3):373-80. doi: 10.1007/s00401-010-0782-y. Epub 2010 Nov 23.

16.

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR.

Brain. 2012 Mar;135(Pt 3):709-22. doi: 10.1093/brain/awr354. Epub 2012 Feb 17.

17.

Pathological and immunoblot analysis of phosphorylated TDP-43 in sporadic amyotrophic lateral sclerosis with pallido-nigro-luysian degeneration.

Uchino A, Ogino M, Takahashi-Fujigasaki J, Oonuma S, Kanazawa N, Kajita S, Ichinoe M, Hasegawa M, Nishiyama K, Murayama S.

Neuropathology. 2018 Apr;38(2):171-178. doi: 10.1111/neup.12430. Epub 2017 Sep 14.

PMID:
28906030
18.

Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.

Jiao B, Tang B, Liu X, Yan X, Zhou L, Yang Y, Wang J, Xia K, Shen L.

Neurobiol Aging. 2014 Apr;35(4):936.e19-22. doi: 10.1016/j.neurobiolaging.2013.10.001. Epub 2013 Oct 5.

PMID:
24269022
19.

Heterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: Evidence for clinico-pathologic subtypes.

Takeuchi R, Tada M, Shiga A, Toyoshima Y, Konno T, Sato T, Nozaki H, Kato T, Horie M, Shimizu H, Takebayashi H, Onodera O, Nishizawa M, Kakita A, Takahashi H.

Acta Neuropathol Commun. 2016 Jun 23;4(1):61. doi: 10.1186/s40478-016-0335-2.

20.

TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.

Maekawa S, Leigh PN, King A, Jones E, Steele JC, Bodi I, Shaw CE, Hortobagyi T, Al-Sarraj S.

Neuropathology. 2009 Dec;29(6):672-83. doi: 10.1111/j.1440-1789.2009.01029.x. Epub 2009 Jun 3.

PMID:
19496940

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