Publications & Talks
Our Research / Publications & Talks
Humoral response to neurofilaments and dipeptide repeats in ALS progression.
Puentes F, Lombardi V, Lu CH, Yildiz O, Fratta P, Isaacs A, Bobeva Y, Wuu J, ALS Biomarker Consortium, CReATe Consortium, Benatar M, Malaspina A. Humoral response to neurofilaments and dipeptide repeats in ALS progression. 2021 Sep;8(9):1831-1844. Epub 2021 Jul 27.
PubMed LinkRepeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans.
Nel M, Mavundla T, Gultig K, Botha G, Mulder N, Benatar M, Wuu J, Cooley A, Myers J, Rampersaud E, Wu G, Heckmann JM. Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans. IBRO Neurosci Rep. 2021 Feb 10;10:130-135. eCollection 2021 Jun.
PubMed LinkFGF23, a novel muscle biomarker detected in the early stages of ALS.
Si Y, Kazamel M, Benatar M, Wuu J, Kwon Y, Kwan T, Jiang N, Kentrup D, Faul C, Alesce L, King PH. FGF23, a novel muscle biomarker detected in the early stages of ALS. Sci Rep. 2021 Jun 8;11(1):12062.
PubMed LinkApplication of a bioinformatic pipeline to RNA-seq data identifies novel viruslike sequence in human blood.
Melnick M, Gonzales P, LaRocca TJ, Song Y, Wuu J, Benatar M, Oskarsson B, Petrucelli L, Dowell RD, Link CD, Prudencio M. Application of a bioinformatic pipeline to RNA-seq data identifies novel viruslike sequence in human blood. G3 (Bethesda). 2021 Apr 29:jkab141. Online ahead of print.
PubMed LinkChallenges and opportunities for Multi-National Investigator-Initiated clinical trials for ALS: European and United States collaborations.
Lingor P, Koch JC, Statland JM, Hussain S, Hennecke C, Wuu J, Langbein T, Ahmed R, Günther R, Ilse B, Kassubek J, Kollewe K, Kuttler J, Leha A, Lengenfeld T, Meyer T, Neuwirth C, Tostmann R, Benatar M. Challenges and opportunities for Multi-National Investigator-Initiated clinical trials for ALS: European and United States collaborations. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Aug;22(5-6):419-425. Epub 2021 Feb 3.
PubMed LinkPreface: promoting research in PLS: current knowledge and future challenges.
Mitsumoto H, Turner MR; all Delegates of the PLS Conference, Ajroud-Driss S, Andres P, Andrews J, Gomez EA, Atehortua JMS, Babu S, Barohn R, Bede P, Benatar M, Chew S, Conwit R, Corcia P, Cudkowicz M, Davis F, Carvalho M, Drory V, Elman L, Factor-Litvak P, Fernandes JAM, Ferrey D, Finegan E, Fink J, Floeter MK, Fournier C, Genge A, Govindarajan R, Granit V, Haase G, Hardiman O, Harms M, Hayat G, Heiman-Patterson T, Hill B, Hübers A, Huey E, Jawdat O, Kano O, Kau K, Kiernan M, Kisanuki Y, Kurent J, Kwan J, Lange D, Ludolph A, Mackenzie I, Manfredi G, Marren D, Morita M, Murphy J, Nations S, Oskarsson B, Paganoni S, Pellerin D, Ravits J, Rezania K, Rouleau G, Scelsa S, Siddique T, Siddique N, Silani V, Simmons Z, Statland J, Traynor B, Blitterswijk MV, Berg LVD, Walk D, Warden D, Wymer J. Preface: promoting research in PLS: current knowledge and future challenges. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(sup1):1-2.
PubMed LinkMachine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis.
Placek K, Benatar M, Wuu J, Rampersaud E, Hennessy L, Van Deerlin VM, Grossman M, Irwin DJ, Elman L, McCluskey L, Quinn C, Granit V, Statland JM, Burns TM, Ravits J, Swenson A, Katz J, Pioro EP, Jackson C, Caress J, So Y, Maiser S, Walk D, Lee EB, Trojanowski JQ, Cook P, Gee J, Sha J, Naj AC, Rademakers R; CReATe Consortium, Chen W, Wu G, Paul Taylor J, McMillan CT. Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis. EMBO Mol Med. 2021 Jan 11;13(1):e12595. Epub 2020 Dec 3.
PubMed LinkIncremental Gains in the Battle against ALS.
Benatar M, McDermott MP. Incremental Gains in the Battle against ALS. N Engl J Med. 2020 Sep 3;383(10):979-980.
PubMed LinkCSF chitinases before and after symptom onset in amyotrophic lateral sclerosis.
Gray E, Thompson AG, Wuu J, Pelt J, Talbot K, Benatar M, Turner MR. CSF chitinases before and after symptom onset in amyotrophic lateral sclerosis. Ann Clin Transl Neurol. 2020 Aug;7(8):1296-1306. Epub 2020 Jul 14.
PubMed LinkValidation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS.
Benatar M, Zhang L, Wang L, Granit V, Statland J, Barohn R, Swenson A, Ravits J, Jackson C, Burns TM, Trivedi J, Pioro EP, Caress J, Katz J, McCauley JL, Rademakers R, Malaspina A, Ostrow LW, Wuu J; CReATe Consortium. Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. Neurology. 2020 Jul 7;95(1):e59-e69. Epub 2020 May 8.
PubMed LinkDipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD.
Andrade NS, Ramic M, Esanov R, Liu W, Rybin MJ, Gaidosh G, Abdallah A, Del'Olio S, Huff TC, Chee NT, Anatha S, Gendron TF, Wahlestedt C, Zhang Y, Benatar M, Mueller C, Zeier Z. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD. Mol Neurodegener. 2020 Feb 24;15(1):13.
PubMed LinkPrimary lateral sclerosis: consensus diagnostic criteria.
Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH; Delegates of the 2nd International PLS Conference, Mitsumoto H. Primary lateral sclerosis: consensus diagnostic criteria. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):373-377. Epub 2020 Feb 6.
PubMed LinkExome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2019 Dec;22(12):1966-1974. Epub 2019 Nov 25.
PubMed LinkPediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
Edmonson MN, Patel AN, Hedges DJ, Wang Z, Rampersaud E, Kesserwan CA, Zhou X, Liu Y, Newman S, Rusch MC, McLeod CL, Wilkinson MR, Rice SV, Soussi T, Taylor JP, Benatar M, Becksfort JB, Nichols KE, Robison LL, Downing JR, Zhang J. Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. Genome Res. 2019 Sep;29(9):1555-1565. Epub 2019 Aug 22.
PubMed LinkNeurofilaments in pre-symptomatic ALS and the impact of genotype.
Benatar M, Wuu J, Lombardi V, Jeromin A, Bowser R, Andersen PM, Malaspina A. Neurofilaments in pre-symptomatic ALS and the impact of genotype. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(7-8):538-548. Epub 2019 Aug 21.
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