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Items: 1 to 50 of 83

1.

CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges.

Crook A, Hogden A, Mumford V, Blair IP, Williams KL, Rowe DB.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(sup1):327-347. doi: 10.1080/21678421.2019.1647002.

PMID:
31702461
2.

Theme 3 In vitro experimental models.

Yang S, Wu S, Fifita J, McCann E, Fat SCM, Galper J, Freckleton S, Zhang KY, Blair IP.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(sup1):135-159. doi: 10.1080/21678421.2019.1646991.

PMID:
31702460
3.

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.

McCann EP, Fifita JA, Grima N, Galper J, Mehta P, Freckleton SE, Zhang KY, Henden L, Hogan AL, Chan Moi Fat S, Wu SS, Jagaraj CJ, Berning BA, Williams KL, Twine NA, Bauer D, Piguet O, Hodges J, Kwok JBJ, Halliday GM, Kiernan MC, Atkin J, Rowe DB, Nicholson GA, Walker AK, Blair IP, Yang S.

J Neurol Neurosurg Psychiatry. 2019 Nov 5. pii: jnnp-2019-321790. doi: 10.1136/jnnp-2019-321790. [Epub ahead of print]

PMID:
31690696
4.

Generation and characterization of a human induced pluripotent stem cell line UOWi005-A from dermal fibroblasts derived from a CCNFS621G familial amyotrophic lateral sclerosis patient using mRNA reprogramming.

Bax M, Balez R, Muñoz SS, Do-Ha D, Stevens CH, Berg T, Cabral-da-Silva MC, Engel M, Nicholson G, Yang S, Blair IP, Ooi L.

Stem Cell Res. 2019 Oct;40:101530. doi: 10.1016/j.scr.2019.101530. Epub 2019 Aug 14.

5.

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.

Tarr IS, McCann EP, Benyamin B, Peters TJ, Twine NA, Zhang KY, Zhao Q, Zhang ZH, Rowe DB, Nicholson GA, Bauer D, Clark SJ, Blair IP, Williams KL.

Sci Rep. 2019 Jun 4;9(1):8254. doi: 10.1038/s41598-019-44765-4.

6.

The metastability of the proteome of spinal motor neurons underlies their selective vulnerability in ALS.

Yerbury JJ, Ooi L, Blair IP, Ciryam P, Dobson CM, Vendruscolo M.

Neurosci Lett. 2019 Jun 21;704:89-94. doi: 10.1016/j.neulet.2019.04.001. Epub 2019 Apr 3.

PMID:
30953736
7.

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.

Crook A, McEwen A, Fifita JA, Zhang K, Kwok JB, Halliday G, Blair IP, Rowe DB.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Aug;20(5-6):310-316. doi: 10.1080/21678421.2019.1588904. Epub 2019 Mar 23.

PMID:
30907153
8.

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

Hogan AL, Don EK, Rayner SL, Lee A, Laird AS, Watchon M, Winnick C, Tarr IS, Morsch M, Fifita JA, Gwee SSL, Formella I, Hortle E, Yuan KC, Molloy MP, Williams KL, Nicholson GA, Chung RS, Blair IP, Cole NJ.

Hum Mol Genet. 2019 Feb 15;28(4):698. doi: 10.1093/hmg/ddy362. No abstract available.

PMID:
30371781
9.

Motor Neuron Abnormalities Correlate with Impaired Movement in Zebrafish that Express Mutant Superoxide Dismutase 1.

Robinson KJ, Yuan KC, Don EK, Hogan AL, Winnick CG, Tym MC, Lucas CW, Shahheydari H, Watchon M, Blair IP, Atkin JD, Nicholson GA, Cole NJ, Laird AS.

Zebrafish. 2019 Feb;16(1):8-14. doi: 10.1089/zeb.2018.1588. Epub 2018 Oct 27.

10.

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease.

Acosta JR, Watchon M, Yuan KC, Fifita JA, Svahn AJ, Don EK, Winnick CG, Blair IP, Nicholson GA, Cole NJ, Goldsbury C, Laird AS.

Biol Open. 2018 Oct 16;7(10). pii: bio036475. doi: 10.1242/bio.036475.

11.

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, Sidle KC, Malaspina A, Hardy J, Singleton AB, Johnson JO, Arepalli S, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Al-Sarraj S, King A, Troakes C, Vance C, de Belleroche J, Baas F, Ten Asbroek ALMA, Muñoz-Blanco JL, Hernandez DG, Ding J, Gibbs JR, Scholz SW, Floeter MK, Campbell RH, Landi F, Bowser R, Pulst SM, Ravits JM, MacGowan DJL, Kirby J, Pioro EP, Pamphlett R, Broach J, Gerhard G, Dunckley TL, Brady CB, Kowall NW, Troncoso JC, Le Ber I, Mouzat K, Lumbroso S, Heiman-Patterson TD, Kamel F, Van Den Bosch L, Baloh RH, Strom TM, Meitinger T, Shatunov A, Van Eijk KR, de Carvalho M, Kooyman M, Middelkoop B, Moisse M, McLaughlin RL, Van Es MA, Weber M, Boylan KB, Van Blitterswijk M, Rademakers R, Morrison KE, Basak AN, Mora JS, Drory VE, Shaw PJ, Turner MR, Talbot K, Hardiman O, Williams KL, Fifita JA, Nicholson GA, Blair IP, Rouleau GA, Esteban-Pérez J, García-Redondo A, Al-Chalabi A; Project MinE ALS Sequencing Consortium, Rogaeva E, Zinman L, Ostrow LW, Maragakis NJ, Rothstein JD, Simmons Z, Cooper-Knock J, Brice A, Goutman SA, Feldman EL, Gibson SB, Taroni F, Ratti A, Gellera C, Van Damme P, Robberecht W, Fratta P, Sabatelli M, Lunetta C, Ludolph AC, Andersen PM, Weishaupt JH, Camu W, Trojanowski JQ, Van Deerlin VM, Brown RH Jr, van den Berg LH, Veldink JH, Harms MB, Glass JD, Stone DJ, Tienari P, Silani V, Chiò A, Shaw CE, Traynor BJ, Landers JE.

Neuron. 2018 Mar 21;97(6):1268-1283.e6. doi: 10.1016/j.neuron.2018.02.027.

12.

ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis.

Parakh S, Jagaraj CJ, Vidal M, Ragagnin AMG, Perri ER, Konopka A, Toth RP, Galper J, Blair IP, Thomas CJ, Walker AK, Yang S, Spencer DM, Atkin JD.

Hum Mol Genet. 2018 Apr 15;27(8):1311-1331. doi: 10.1093/hmg/ddy041.

PMID:
29409023
13.

Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.

Fifita JA, Zhang KY, Galper J, Williams KL, McCann EP, Hogan AL, Saunders N, Bauer D, Tarr IS, Pamphlett R, Nicholson GA, Rowe D, Yang S, Blair IP.

Neurodegener Dis. 2017;17(6):304-312. doi: 10.1159/000481258. Epub 2017 Nov 11.

PMID:
29131108
14.

Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.

Trist BG, Fifita JA, Freckleton SE, Hare DJ, Lewis SJG, Halliday GM, Blair IP, Double KL.

Acta Neuropathol. 2018 Jan;135(1):155-156. doi: 10.1007/s00401-017-1779-6. Epub 2017 Oct 19. No abstract available.

PMID:
29052003
15.

Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex.

Lee A, Rayner SL, De Luca A, Gwee SSL, Morsch M, Sundaramoorthy V, Shahheydari H, Ragagnin A, Shi B, Yang S, Williams KL, Don EK, Walker AK, Zhang KY, Yerbury JJ, Cole NJ, Atkin JD, Blair IP, Molloy MP, Chung RS.

Open Biol. 2017 Oct;7(10). pii: 170058. doi: 10.1098/rsob.170058.

16.

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.

Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RAK, Levina V, Halloran MA, Gleeson PA, Blair IP, Soo KY, King AE, Atkin JD.

Hum Mol Genet. 2017 Oct 15;26(20):4093-4094. doi: 10.1093/hmg/ddx309. No abstract available.

17.

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

Benyamin B, He J, Zhao Q, Gratten J, Garton F, Leo PJ, Liu Z, Mangelsdorf M, Al-Chalabi A, Anderson L, Butler TJ, Chen L, Chen XD, Cremin K, Deng HW, Devine M, Edson J, Fifita JA, Furlong S, Han YY, Harris J, Henders AK, Jeffree RL, Jin ZB, Li Z, Li T, Li M, Lin Y, Liu X, Marshall M, McCann EP, Mowry BJ, Ngo ST, Pamphlett R, Ran S, Reutens DC, Rowe DB, Sachdev P, Shah S, Song S, Tan LJ, Tang L, van den Berg LH, van Rheenen W, Veldink JH, Wallace RH, Wheeler L, Williams KL, Wu J, Wu X, Yang J, Yue W, Zhang ZH, Zhang D, Noakes PG, Blair IP, Henderson RD, McCombe PA, Visscher PM, Xu H, Bartlett PF, Brown MA, Wray NR, Fan D.

Nat Commun. 2017 Sep 20;8(1):611. doi: 10.1038/s41467-017-00471-1.

18.

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

Sundaramoorthy V, Walker AK, Tan V, Fifita JA, Mccann EP, Williams KL, Blair IP, Guillemin GJ, Farg MA, Atkin JD.

Hum Mol Genet. 2017 Sep 1;26(17):3452. doi: 10.1093/hmg/ddx268. No abstract available.

PMID:
28854706
19.

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.

Lee A, Rayner SL, Gwee SSL, De Luca A, Shahheydari H, Sundaramoorthy V, Ragagnin A, Morsch M, Radford R, Galper J, Freckleton S, Shi B, Walker AK, Don EK, Cole NJ, Yang S, Williams KL, Yerbury JJ, Blair IP, Atkin JD, Molloy MP, Chung RS.

Cell Mol Life Sci. 2018 Jan;75(2):335-354. doi: 10.1007/s00018-017-2632-8. Epub 2017 Aug 29.

PMID:
28852778
20.

Cyclin F: A component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer.

Galper J, Rayner SL, Hogan AL, Fifita JA, Lee A, Chung RS, Blair IP, Yang S.

Int J Biochem Cell Biol. 2017 Aug;89:216-220. doi: 10.1016/j.biocel.2017.06.011. Epub 2017 Jun 24. Review.

PMID:
28652210
21.

Postnatal Development of Spasticity Following Transgene Insertion in the Mouse βIV Spectrin Gene (SPTBN4).

Kichkin E, Visvanathan A, Lovicu FJ, Shu DY, Das SJ, Reddel SW, McCann EP, Zhang KY, Williams KL, Blair IP, Phillips WD.

J Neuromuscul Dis. 2017;4(2):159-164. doi: 10.3233/JND-160197.

PMID:
28582869
22.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.

Thomas-Jinu S, Gordon PM, Fielding T, Taylor R, Smith BN, Snowden V, Blanc E, Vance C, Topp S, Wong CH, Bielen H, Williams KL, McCann EP, Nicholson GA, Pan-Vazquez A, Fox AH, Bond CS, Talbot WS, Blair IP, Shaw CE, Houart C.

Neuron. 2017 May 17;94(4):931. doi: 10.1016/j.neuron.2017.04.036. No abstract available.

23.

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

Hogan AL, Don EK, Rayner SL, Lee A, Laird AS, Watchon M, Winnick C, Tarr IS, Morsch M, Fifita JA, Gwee SSL, Formella I, Hortle E, Yuan KC, Molloy MP, Williams KL, Nicholson GA, Chung RS, Blair IP, Cole NJ.

Hum Mol Genet. 2017 Jul 15;26(14):2616-2626. doi: 10.1093/hmg/ddx136. Erratum in: Hum Mol Genet. 2019 Feb 15;28(4):698.

PMID:
28444311
24.

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.

Thomas-Jinu S, Gordon PM, Fielding T, Taylor R, Smith BN, Snowden V, Blanc E, Vance C, Topp S, Wong CH, Bielen H, Williams KL, McCann EP, Nicholson GA, Pan-Vazquez A, Fox AH, Bond CS, Talbot WS, Blair IP, Shaw CE, Houart C.

Neuron. 2017 Apr 19;94(2):322-336.e5. doi: 10.1016/j.neuron.2017.03.026. Epub 2017 Apr 6. Erratum in: Neuron. 2017 May 17;94(4):931.

25.

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

McCann EP, Williams KL, Fifita JA, Tarr IS, O'Connor J, Rowe DB, Nicholson GA, Blair IP.

Clin Genet. 2017 Sep;92(3):259-266. doi: 10.1111/cge.12973. Epub 2017 Mar 30.

PMID:
28105640
26.

A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro.

Fifita JA, Williams KL, Sundaramoorthy V, Mccann EP, Nicholson GA, Atkin JD, Blair IP.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):126-133. doi: 10.1080/21678421.2016.1218517. Epub 2016 Aug 18.

PMID:
27534431
27.

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.

28.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP.

Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253.

29.

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

Williams KL, McCann EP, Fifita JA, Zhang K, Duncan EL, Leo PJ, Marshall M, Rowe DB, Nicholson GA, Blair IP.

Neurobiol Aging. 2015 Dec;36(12):3334.e1-3334.e5. doi: 10.1016/j.neurobiolaging.2015.08.013. Epub 2015 Aug 18.

PMID:
26350399
30.

Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions.

Farrawell NE, Lambert-Smith IA, Warraich ST, Blair IP, Saunders DN, Hatters DM, Yerbury JJ.

Sci Rep. 2015 Aug 21;5:13416. doi: 10.1038/srep13416.

31.

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.

Yang S, Zhang KY, Kariawasam R, Bax M, Fifita JA, Ooi L, Yerbury JJ, Nicholson GA, Blair IP.

Neurotox Res. 2015 Aug;28(2):138-46. doi: 10.1007/s12640-015-9532-1. Epub 2015 May 27.

PMID:
26013250
32.

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.

Sundaramoorthy V, Walker AK, Tan V, Fifita JA, Mccann EP, Williams KL, Blair IP, Guillemin GJ, Farg MA, Atkin JD.

Hum Mol Genet. 2015 Jul 1;24(13):3830-46. doi: 10.1093/hmg/ddv126. Epub 2015 Apr 9. Erratum in: Hum Mol Genet. 2017 Sep 1;26(17 ):3452.

PMID:
25859013
33.

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Fifita JA, Williams KL, McCann EP, O'Brien A, Bauer DC, Nicholson GA, Blair IP.

Neurobiol Aging. 2015 Mar;36(3):1602.e1-2. doi: 10.1016/j.neurobiolaging.2014.11.010. Epub 2014 Nov 20.

PMID:
25523636
34.

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE.

Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22.

35.

Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cells.

Acosta JR, Goldsbury C, Winnick C, Badrock AP, Fraser ST, Laird AS, Hall TE, Don EK, Fifita JA, Blair IP, Nicholson GA, Cole NJ.

PLoS One. 2014 Jun 9;9(6):e90572. doi: 10.1371/journal.pone.0090572. eCollection 2014.

36.

Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration.

Zhang KY, Yang S, Warraich ST, Blair IP.

Int J Biochem Cell Biol. 2014 May;50:123-6. doi: 10.1016/j.biocel.2014.02.018. Epub 2014 Feb 28. Review.

PMID:
24589709
37.

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.

Farg MA, Sundaramoorthy V, Sultana JM, Yang S, Atkinson RA, Levina V, Halloran MA, Gleeson PA, Blair IP, Soo KY, King AE, Atkin JD.

Hum Mol Genet. 2014 Jul 1;23(13):3579-95. doi: 10.1093/hmg/ddu068. Epub 2014 Feb 18. Erratum in: Hum Mol Genet. 2017 Oct 15;26(20):4093-4094.

38.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS, Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S.

Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10.

39.

Exome sequencing to identify de novo mutations in sporadic ALS trios.

Chesi A, Staahl BT, Jovičić A, Couthouis J, Fasolino M, Raphael AR, Yamazaki T, Elias L, Polak M, Kelly C, Williams KL, Fifita JA, Maragakis NJ, Nicholson GA, King OD, Reed R, Crabtree GR, Blair IP, Glass JD, Gitler AD.

Nat Neurosci. 2013 Jul;16(7):851-5. doi: 10.1038/nn.3412. Epub 2013 May 26.

40.

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.

Yang S, Fifita JA, Williams KL, Warraich ST, Pamphlett R, Nicholson GA, Blair IP.

Neurobiol Aging. 2013 Sep;34(9):2235.e7-10. doi: 10.1016/j.neurobiolaging.2013.04.003. Epub 2013 Apr 28.

PMID:
23635659
41.

Pathophysiological insights into ALS with C9ORF72 expansions.

Williams KL, Fifita JA, Vucic S, Durnall JC, Kiernan MC, Blair IP, Nicholson GA.

J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):931-5. doi: 10.1136/jnnp-2012-304529. Epub 2013 Mar 5.

PMID:
23463871
42.

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.

43.

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.

Farg MA, Soo KY, Warraich ST, Sundaramoorthy V, Blair IP, Atkin JD.

Hum Mol Genet. 2013 Feb 15;22(4):717-28. doi: 10.1093/hmg/dds479. Epub 2012 Nov 19.

PMID:
23172909
44.

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

Williams KL, Warraich ST, Yang S, Solski JA, Fernando R, Rouleau GA, Nicholson GA, Blair IP.

Neurobiol Aging. 2012 Oct;33(10):2527.e3-10. doi: 10.1016/j.neurobiolaging.2012.05.008. Epub 2012 Jun 19.

PMID:
22717235
45.

Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase.

Farg MA, Soo KY, Walker AK, Pham H, Orian J, Horne MK, Warraich ST, Williams KL, Blair IP, Atkin JD.

Neurobiol Aging. 2012 Dec;33(12):2855-68. doi: 10.1016/j.neurobiolaging.2012.02.009. Epub 2012 Mar 28.

PMID:
22459602
46.

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.

Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcone D, Elman L, McCluskey L, Greene R, Hakonarson H, Kalb RG, Lee VM, Trojanowski JQ, Nicholson GA, Blair IP, Bonini NM, Van Deerlin VM, Mourelatos Z, Shorter J, Gitler AD.

Hum Mol Genet. 2012 Jul 1;21(13):2899-911. doi: 10.1093/hmg/dds116. Epub 2012 Mar 27.

47.

A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis.

Solski JA, Yang S, Nicholson GA, Luquin N, Williams KL, Fernando R, Pamphlett R, Blair IP.

Amyotroph Lateral Scler. 2012 Sep;13(5):465-70. doi: 10.3109/17482968.2012.662690. Epub 2012 Mar 16.

PMID:
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