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Utility of threshold tracking transcranial magnetic stimulation in ALS.

Vucic S, van den Bos M, Menon P, Howells J, Dharmadasa T, Kiernan MC.
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The burden of apathy for caregivers of patients with amyotrophic lateral sclerosis.

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Taking on the Elephant in the Tissue Culture Room: iPSC Modeling for Sporadic ALS.

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Diltiazem Promotes Regenerative Axon Growth.

Huebner EA, Budel S, Jiang Z, Omura T, Ho TS, Barrett L, Merkel JS, Pereira LM, Andrews NA, Wang X, Singh B, Kapur K, Costigan M, Strittmatter SM, Woolf CJ.
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Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.

Gkazi SA, Troakes C, Topp S, Miller JW, Vance CA, Sreedharan J, Al-Chalabi A, Kirby J, Shaw PJ, Al-Sarraj S, King A, Smith BN, Shaw CE.
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Fasciculation intensity and disease progression in amyotrophic lateral sclerosis.

Tsugawa J, Dharmadasa T, Ma Y, Huynh W, Vucic S, Kiernan MC.
Clin Neurophysiol. 2018 Oct;129(10):2149-2154. doi: 10.1016/j.clinph.2018.07.015. Epub 2018 Aug 2
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The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis.

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Combining NGN2 Programming with Developmental Patterning Generates Human Excitatory Neurons with NMDAR-Mediated Synaptic Transmission.

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Amyotrophic lateral sclerosis - Time for beta testing?

Baker MR, Dharmadasa T, Jaiser SR, Kiernan MC.
Clin Neurophysiol. 2018 Jul;129(7):1455-1456. doi: 10.1016/j.clinph.2018.04.613. Epub 2018 Apr 30. No abstract available.

 

Physiological changes in neurodegeneration - mechanistic insights and clinical utility.

Ahmed RM, Ke YD, Vucic S, Ittner LM, Seeley W, Hodges JR, Piguet O, Halliday G, Kiernan MC.
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Riluzole, disease stage and survival in ALS.

Dharmadasa T, Kiernan MC.
Lancet Neurol. 2018 May;17(5):385-386. doi: 10.1016/S1474-4422(18)30091-7. Epub 2018 Mar 7. No abstract available.

 

Inter-session reliability of short-interval intracortical inhibition measured by threshold tracking TMS.

Matamala JM, Howells J, Dharmadasa T, Trinh T, Ma Y, Lera L, Vucic S, Burke D, Kiernan MC.
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Noto YI, Simon NG, Selby A, Garg N, Shibuya K, Shahrizaila N, Huynh W, Matamala JM, Dharmadasa T, Park SB, Vucic S, Kiernan MC.
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Motor neuron disease in 2017: Progress towards therapy in motor neuron disease.

Kiernan MC.
Nat Rev Neurol. 2018 Feb;14(2):65-66. doi: 10.1038/nrneurol.2017.186. Epub 2018 Jan 19. No abstract available.

 

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Lee YB, Baskaran P, Gomez-Deza J, Chen HJ, Nishimura AL, Smith BN, Troakes C, Adachi Y, Stepto A, Petrucelli L, Gallo JM, Hirth F, Rogelj B, Guthrie S, Shaw CE.
Hum Mol Genet. 2017 Dec 15;26(24):4765-4777. doi: 10.1093/hmg/ddx350.

 

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN, Topp SD, Fallini C, Shibata H, Chen HJ, Troakes C, King A, Ticozzi N, Kenna KP, Soragia-Gkazi A, Miller JW, Sato A, Dias DM, Jeon M, Vance C, Wong CH, de Majo M, Kattuah W, Mitchell JC, Scotter EL, Parkin NW, Sapp PC, Nolan M, Nestor PJ, Simpson M, Weale M, Lek M, Baas F, Vianney de Jong JM, Ten Asbroek ALMA, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Leigh N, Pall H, Morrison KE, Al-Chalabi A, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, De Belleroche J, Maki M, Moss SE, Miller C, Gellera C, Ratti A, Al-Sarraj S, Brown RH Jr, Silani V, Landers JE, Shaw CE.
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Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations.

Merkle FT, Ghosh S, Kamitaki N, Mitchell J, Avior Y, Mello C, Kashin S, Mekhoubad S, Ilic D, Charlton M, Saphier G, Handsaker RE, Genovese G, Bar S, Benvenisty N, McCarroll SA, Eggan K.
Nature. 2017 May 11;545(7653):229-233. doi: 10.1038/nature22312. Epub 2017 Apr 26.

 

Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome.

Bashford JA, Chowdhury FA, Shaw CE.
Pract Neurol. 2017 Jan;17(1):53-56. doi: 10.1136/practneurol-2016-001488. Epub 2016 Oct 24.

 

Monitoring peripheral nerve degeneration in ALS by label-free stimulated Raman scattering imaging.

Tian F, Yang W, Mordes DA, Wang JY, Salameh JS, Mok J, Chew J, Sharma A, Leno-Duran E, Suzuki-Uematsu S, Suzuki N, Han SS, Lu FK, Ji M, Zhang R, Liu Y, Strominger J, Shneider NA, Petrucelli L, Xie XS, Eggan K.
Nat Commun. 2016 Oct 31;7:13283. doi: 10.1038/ncomms13283.

 

Motor neurone disease.

Dharmadasa T, Matamala JM, Huynh W, Zoing MC, Kiernan MC.
Handb Clin Neurol. 2018;159:345-357. doi: 10.1016/B978-0-444-63916-5.00022-7.

 

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.

Burberry A, Suzuki N, Wang JY, Moccia R, Mordes DA, Stewart MH, Suzuki-Uematsu S, Ghosh S, Singh A, Merkle FT, Koszka K, Li QZ, Zon L, Rossi DJ, Trowbridge JJ, Notarangelo LD, Eggan K.
Sci Transl Med. 2016 Jul 13;8(347):347ra93. doi: 10.1126/scitranslmed.aaf6038.

 

Robust Axonal Regeneration Occurs in the Injured CAST/Ei Mouse CNS.

Omura T, Omura K, Tedeschi A, Riva P, Painter MW, Rojas L, Martin J, Lisi V, Huebner EA, Latremoliere A, Yin Y, Barrett LB, Singh B, Lee S, Crisman T, Gao F, Li S, Kapur K, Geschwind DH, Kosik KS, Coppola G, He Z, Carmichael ST, Benowitz LI, Costigan M, Woolf CJ.
Neuron. 2016 May 4;90(3):662. doi: 10.1016/j.neuron.2016.04.025. No abstract available.

 

Lack of motor recovery after prolonged denervation of the neuromuscular junction is not due to regenerative failure.

Sakuma M, Gorski G, Sheu SH, Lee S, Barrett LB, Singh B, Omura T, Latremoliere A, Woolf CJ.
Eur J Neurosci. 2016 Feb;43(3):451-62. doi: 10.1111/ejn.13059. Epub 2015 Sep 28.

 

Cortical Hyperexcitability in Amyotrophic Lateral Sclerosis: C9orf72 Repeats.

Wainger BJ, Cudkowicz ME.
JAMA Neurol. 2015 Nov;72(11):1235-6. doi: 10.1001/jamaneurol.2015.2197. No abstract available.

 

From Dish to Bedside: Lessons Learned While Translating Findings from a Stem Cell Model of Disease to a Clinical Trial.

McNeish J, Gardner JP, Wainger BJ, Woolf CJ, Eggan K.
Cell Stem Cell. 2015 Jul 2;17(1):8-10. doi: 10.1016/j.stem.2015.06.013.

 

Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons.

Wainger BJ, Kiskinis E, Mellin C, Wiskow O, Han SS, Sandoe J, Perez NP, Williams LA, Lee S, Boulting G, Berry JD, Brown RH Jr, Cudkowicz ME, Bean BP, Eggan K, Woolf CJ.
Cell Rep. 2014 Apr 10;7(1):1-11. doi: 10.1016/j.celrep.2014.03.019. Epub 2014 Apr 3.

 

Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.

Kiskinis E, Sandoe J, Williams LA, Boulting GL, Moccia R, Wainger BJ, Han S, Peng T, Thams S, Mikkilineni S, Mellin C, Merkle FT, Davis-Dusenbery BN, Ziller M, Oakley D, Ichida J, Di Costanzo S, Atwater N, Maeder ML, Goodwin MJ, Nemesh J, Handsaker RE, Paull D, Noggle S, McCarroll SA, Joung JK, Woolf CJ, Brown RH, Eggan K.
Cell Stem Cell. 2014 Jun 5;14(6):781-95. doi: 10.1016/j.stem.2014.03.004. Epub 2014 Apr 3.