Publications & Talks
Our Research / Publications & Talks
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.
Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, Tabassian LJ, Lee CW, Yue M, Tong J, Song Y, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Rademakers R, Fryer JD, Rush BK, Pedraza O, Caputo AM, Desaro P, Palmucci C, Robertson A, Heckman MG, Diehl NN, Wiggs E, Tierney M, Braun L, Farren J, Lacomis D, Ladha S, Fournier CN, McCluskey LF, Elman LB, Toledo JB, McBride JD, Tiloca C, Morelli C, Poletti B, Solca F, Prelle A, Wuu J, Jockel-Balsarotti J, Rigo F, Ambrose C, Datta A, Yang W, Raitcheva D, Antognetti G, McCampbell A, Van Swieten JC, Miller BL, Boxer AL, Brown RH, Bowser R, Miller TM, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Traynor BJ, Disney MD, Benatar M, Silani V, Glass JD, Floeter MK, Rothstein JD, Boylan KB, Petrucelli L. Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Sci Transl Med. 2017 Mar 29;9(383):eaai7866.
PubMed LinkUrinary p75(ECD): A prognostic, disease progression, and pharmacodynamic biomarker in ALS.
Shepheard SR, Wuu J, Cardoso M, Wiklendt L, Dinning PG, Chataway T, Schultz D, Benatar M, Rogers ML. Urinary p75(ECD): A prognostic, disease progression, and pharmacodynamic biomarker in ALS. Neurology. 2017 Mar 21;88(12):1137-1143. Epub 2017 Feb 22.
PubMed LinkAmyotrophic lateral sclerosis – frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria.
Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J, Mioshi E, Roberts-South A, Benatar M, HortobáGyi T, Rosenfeld J, Silani V, Ince PG, Turner MR. Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):153-174. Epub 2017 Jan 5.
PubMed LinkSequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study.
Nordin A, Akimoto C, Wuolikainen A, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A, Nordin F, Ludolph AC, Weishaupt JH, Meyer T, Grehl T, Schweikert K, Weber M, Burkhardt C, Neuwirth C, Holmøy T, Morita M, Tysnes OB, Benatar M, Wuu J, Lange DJ, Bisgård C, Asgari N, Tarvainen I, Brännström T, Andersen PM. Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):256-264. Epub 2016 Dec 12.
PubMed LinkAltered cortical beta-band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis.
Proudfoot M, Rohenkohl G, Quinn A, Colclough GL, Wuu J, Talbot K, Woolrich MW, Benatar M, Nobre AC, Turner MR. Altered cortical beta-band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis. Hum Brain Mapp. 2017 Jan;38(1):237-254. Epub 2016 Sep 13.
PubMed LinkPresymptomatic ALS genetic counseling and testing: Experience and recommendations.
Benatar M, Stanislaw C, Reyes E, Hussain S, Cooley A, Fernandez MC, Dauphin DD, Michon SC, Andersen PM, Wuu J. Presymptomatic ALS genetic counseling and testing: Experience and recommendations. Neurology. 2016 Jun 14;86(24):2295-302. Epub 2016 May 18.
PubMed LinkC9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.
Esanov R, Belle KC, van Blitterswijk M, Belzil VV, Rademakers R, Dickson DW, Petrucelli L, Boylan KB, Dykxhoorn DM, Wuu J, Benatar M, Wahlestedt C, Zeier Z. C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells. Exp Neurol. 2016 Mar;277:171-177. Epub 2015 Dec 31.
PubMed LinkIncreased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk.
Menke RA, Proudfoot M, Wuu J, Andersen PM, Talbot K, Benatar M, Turner MR. Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk. J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):580-8. Epub 2016 Jan 5.
PubMed LinkALS biomarkers for therapy development: State of the field and future directions.
Benatar M, Boylan K, Jeromin A, Rutkove SB, Berry J, Atassi N, Bruijn L. ALS biomarkers for therapy development: State of the field and future directions. Muscle Nerve. 2016 Feb;53(2):169-82. Epub 2015 Dec 29.
PubMed LinkMind the gap: the mismatch between clinical and imaging metrics in ALS.
Verstraete E, Turner MR, Grosskreutz J, Filippi M, Benatar M; attendees of the 4th NiSALS meeting. Mind the gap: the mismatch between clinical and imaging metrics in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):524-9. Epub 2015 Sep 24.
PubMed LinkProgress towards a neuroimaging biomarker for amyotrophic lateral sclerosis.
Filippi M, Agosta F, Grosskreutz J, Benatar M, Kassubek J, Verstraete E, Turner MR; Neuroimaging Society in ALS (NiSALS). Progress towards a neuroimaging biomarker for amyotrophic lateral sclerosis. Lancet Neurol. 2015 Aug;14(8):786-788.
PubMed LinkBromodomain inhibitors regulate the C9ORF72 locus in ALS.
Zeier Z, Esanov R, Belle KC, Volmar CH, Johnstone AL, Halley P, DeRosa BA, Khoury N, van Blitterswijk M, Rademakers R, Albert J, Brothers SP, Wuu J, Dykxhoorn DM, Benatar M, Wahlestedt C. Bromodomain inhibitors regulate the C9ORF72 locus in ALS. Exp Neurol. 2015 Sep;271:241-50. Epub 2015 Jun 20.
PubMed LinkNovel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology. 2015 Feb 17;84(7):668-79. Epub 2015 Jan 21.
PubMed LinkEnsuring continued progress in biomarkers for amyotrophic lateral sclerosis.
Turner MR, Benatar M. Ensuring continued progress in biomarkers for amyotrophic lateral sclerosis. Muscle Nerve. 2015 Jan;51(1):14-8. Epub 2014 Nov 24.
PubMed LinkA case of familial ALS due to multi-system proteinopathy 1 and Huntington disease.
Oskarsson B, Wheelock V, Benatar M, Taylor JP, Joyce N, Chesak D, Jin LW. A case of familial ALS due to multi-system proteinopathy 1 and Huntington disease. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):124-6. Epub 2014 Sep 10.
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