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Items: 1 to 50 of 204

1.

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.

2.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A.

Neurogenetics. 2019 Aug;20(3):117-127. doi: 10.1007/s10048-019-00576-3. Epub 2019 Apr 22.

PMID:
31011849
3.

SPTLC1-Related Hereditary Sensory Neuropathy.

Nicholson GA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Sep 23 [updated 2018 Nov 21].

4.

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
5.

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.

6.

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.

7.

A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.

Kennerson ML, Corbett AC, Ellis M, Perez-Siles G, Nicholson GA.

Brain. 2018 Sep 1;141(9):e66. doi: 10.1093/brain/awy184. No abstract available.

PMID:
29982295
8.

Infantile-Onset Myelin Protein Zero-Related Demyelinating Neuropathy Presenting as an Upper Extremity Monoplegia.

Yiu EM, Wanigasinghe J, Mackay MT, Gonzales M, Nicholson GA, Ryan MM.

Semin Pediatr Neurol. 2018 Jul;26:52-55. doi: 10.1016/j.spen.2017.03.005. Epub 2017 Apr 1.

PMID:
29961519
9.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Züchner S, Kennerson ML, Burns J, Menezes MP.

Neurology. 2018 May 8;90(19):e1706-e1710. doi: 10.1212/WNL.0000000000005479. Epub 2018 Apr 6.

PMID:
29626178
10.

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML.

Mol Genet Genomic Med. 2018 May;6(3):422-433. doi: 10.1002/mgg3.390. Epub 2018 Mar 23. Review.

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.

Outcomes following completion and salvage surgery for early rectal cancer: A systematic review.

Jones HJS, Cunningham C, Nicholson GA, Hompes R.

Eur J Surg Oncol. 2018 Jan;44(1):15-23. doi: 10.1016/j.ejso.2017.10.212. Epub 2017 Nov 14. Review.

PMID:
29174708
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.

Calpain Inhibition Is Protective in Machado-Joseph Disease Zebrafish Due to Induction of Autophagy.

Watchon M, Yuan KC, Mackovski N, Svahn AJ, Cole NJ, Goldsbury C, Rinkwitz S, Becker TS, Nicholson GA, Laird AS.

J Neurosci. 2017 Aug 9;37(32):7782-7794. doi: 10.1523/JNEUROSCI.1142-17.2017. Epub 2017 Jul 7.

15.

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.

16.

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
17.

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.

18.

A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.

Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Züchner S, Baets J, Lee YC.

Brain. 2017 May 1;140(5):1252-1266. doi: 10.1093/brain/awx058.

19.

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
20.

Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy.

Shahrizaila N, Noto Y, Simon NG, Huynh W, Shibuya K, Matamala JM, Dharmadasa T, Devenney E, Kennerson ML, Nicholson GA, Kiernan MC.

Clin Neurophysiol. 2017 Jan;128(1):227-232. doi: 10.1016/j.clinph.2016.11.010. Epub 2016 Nov 21.

PMID:
27940147
21.

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
22.

A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.

Drew AP, Cutrupi AN, Brewer MH, Nicholson GA, Kennerson ML.

Hum Genet. 2016 Nov;135(11):1269-1278. Epub 2016 Aug 3.

PMID:
27487800
23.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A, Weber M, Shaw CE, Smith BN, Pansarasa O, Cereda C, Del Bo R, Comi GP, D'Alfonso S, Bertolin C, Sorarù G, Mazzini L, Pensato V, Gellera C, Tiloca C, Ratti A, Calvo A, Moglia C, Brunetti M, Arcuti S, Capozzo R, Zecca C, Lunetta C, Penco S, Riva N, Padovani A, Filosto M, Muller B, Stuit RJ; PARALS Registry; SLALOM Group; SLAP Registry; FALS Sequencing Consortium; SLAGEN Consortium; NNIPPS Study Group, Blair I, Zhang K, McCann EP, Fifita JA, Nicholson GA, Rowe DB, Pamphlett R, Kiernan MC, Grosskreutz J, Witte OW, Ringer T, Prell T, Stubendorff B, Kurth I, Hübner CA, Leigh PN, Casale F, Chio A, Beghi E, Pupillo E, Tortelli R, Logroscino G, Powell J, Ludolph AC, Weishaupt JH, Robberecht W, Van Damme P, Franke L, Pers TH, Brown RH, Glass JD, Landers JE, Hardiman O, Andersen PM, Corcia P, Vourc'h P, Silani V, Wray NR, Visscher PM, de Bakker PI, van Es MA, Pasterkamp RJ, Lewis CM, Breen G, Al-Chalabi A, van den Berg LH, Veldink JH.

Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

24.

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.

25.

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML.

PLoS Genet. 2016 Jul 20;12(7):e1006177. doi: 10.1371/journal.pgen.1006177. eCollection 2016 Jul.

26.

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.

Perez-Siles G, Ly C, Grant A, Drew AP, Yiu EM, Ryan MM, Chuang DT, Tso SC, Nicholson GA, Kennerson ML.

Neurobiol Dis. 2016 Oct;94:237-44. doi: 10.1016/j.nbd.2016.07.001. Epub 2016 Jul 5.

PMID:
27388934
27.

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML.

Metallomics. 2016 Sep 1;8(9):981-92. doi: 10.1039/c6mt00082g. Epub 2016 Jun 13.

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.

Genetic basis of hindlimb loss in a naturally occurring vertebrate model.

Don EK, de Jong-Curtain TA, Doggett K, Hall TE, Heng B, Badrock AP, Winnick C, Nicholson GA, Guillemin GJ, Currie PD, Hesselson D, Heath JK, Cole NJ.

Biol Open. 2016 Feb 18;5(3):359-66. doi: 10.1242/bio.016295.

30.

Identifying Ureters In Situ Under Fluorescence During Laparoscopic and Open Colorectal Surgery.

Yeung TM, Volpi D, Tullis ID, Nicholson GA, Buchs N, Cunningham C, Guy R, Lindsey I, George B, Jones O, Wang LM, Hompes R, Vojnovic B, Hamdy F, Mortensen NJ.

Ann Surg. 2016 Jan;263(1):e1-2. doi: 10.1097/SLA.0000000000001513. No abstract available.

PMID:
26672509
31.

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.

Tey S, Ahmad-Annuar A, Drew AP, Shahrizaila N, Nicholson GA, Kennerson ML.

Clin Genet. 2016 Aug;90(2):127-33. doi: 10.1111/cge.12712. Epub 2016 Feb 16.

PMID:
26662454
32.

MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA.

Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13.

33.

Transanal rectal resection: an initial experience of 20 cases.

Buchs NC, Nicholson GA, Yeung T, Mortensen NJ, Cunningham C, Jones OM, Guy R, Hompes R.

Colorectal Dis. 2016 Jan;18(1):45-50. doi: 10.1111/codi.13227.

PMID:
26639062
34.

Transanal total mesorectal excision: A valid option for rectal cancer?

Buchs NC, Nicholson GA, Ris F, Mortensen NJ, Hompes R.

World J Gastroenterol. 2015 Nov 7;21(41):11700-8. doi: 10.3748/wjg.v21.i41.11700. Review.

35.

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
36.

Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis.

Geevasinga N, Menon P, Nicholson GA, Ng K, Howells J, Kril JJ, Yiannikas C, Kiernan MC, Vucic S.

JAMA Neurol. 2015 Nov;72(11):1268-74. doi: 10.1001/jamaneurol.2015.1872.

37.

Laparoscopic rectopexy is feasible and safe in the emergency admission setting.

Bloemendaal AL, Mishra A, Nicholson GA, Jones OM, Lindsey I, Hompes R, Cunningham C.

Colorectal Dis. 2015 Oct;17(10):O198-201. doi: 10.1111/codi.13015.

PMID:
26039940
38.

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
39.

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

Drew AP, Zhu D, Kidambi A, Ly C, Tey S, Brewer MH, Ahmad-Annuar A, Nicholson GA, Kennerson ML.

Mol Genet Genomic Med. 2015 Mar;3(2):143-54. doi: 10.1002/mgg3.126. Epub 2015 Jan 14.

40.

Augmenting the decision making process in acute appendicitis: A retrospective cohort study.

Abdelhalim MA, Stuart JD, Nicholson GA.

Int J Surg. 2015 May;17:5-9. doi: 10.1016/j.ijsu.2015.03.004. Epub 2015 Mar 14.

41.

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
42.

Axonal ion channel dysfunction in c9orf72 familial amyotrophic lateral sclerosis.

Geevasinga N, Menon P, Howells J, Nicholson GA, Kiernan MC, Vucic S.

JAMA Neurol. 2015 Jan;72(1):49-57. doi: 10.1001/jamaneurol.2014.2940.

PMID:
25384182
43.

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.

44.

A national trainee-led audit of inguinal hernia repair in Scotland.

O'Neill S, Robertson AG, Robson AJ, Richards CH, Nicholson GA, Mittapalli D; Scottish Surgical Research Group.

Hernia. 2015 Oct;19(5):747-53. doi: 10.1007/s10029-014-1298-5. Epub 2014 Aug 21.

PMID:
25142492
45.

The impact of surgical specialisation on survival following elective colon cancer surgery.

Oliphant R, Nicholson GA, Horgan PG, McMillan DC, Morrison DS; West of Scotland Colorectal Cancer Managed Clinical Network.

Int J Colorectal Dis. 2014 Sep;29(9):1143-50. doi: 10.1007/s00384-014-1965-0. Epub 2014 Jul 19.

PMID:
25034593
46.

Analysis of dynein intermediate chains, light intermediate chains and light chains in a cohort of hereditary peripheral neuropathies.

Tey S, Ahmad-Annuar A, Drew AP, Shahrizaila N, Nicholson GA, Kennerson ML.

Neurogenetics. 2014 Oct;15(4):229-35. doi: 10.1007/s10048-014-0414-0. Epub 2014 Jul 16.

PMID:
25028179
47.

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.

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