Alan E. Renton

2023

Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study

Alzheimer's Biomarker Consortium-Down Syndrome & Dominantly Inherited Alzheimer Network, Jan 2023, In: The Lancet Neurology. 22, 1, p. 55-65 11 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred

Cochran, J. N., Acosta-Uribe, J., Esposito, B. T., Madrigal, L., Aguillón, D., Giraldo, M. M., Taylor, J. W., Bradley, J., Fulton-Howard, B., Andrews, S. J., Acosta-Baena, N., Alzate, D., Garcia, G. P., Piedrahita, F., Lopez, H. E., Anderson, A. G., Rodriguez-Nunez, I., Roberts, K., Dominantly, I., Absher, D., & 10 othersMyers, R. M., Beecham, G. W., Reitz, C., Rizzardi, L. F., Fernandez, M. V., Goate, A. M., Cruchaga, C., Renton, A. E., Lopera, F. & Kosik, K. S., 2023, (Accepted/In press) In: Alzheimer's and Dementia.

Research output: Contribution to journal › Article › peer-review

Polygenic risk score penetrance & recurrence risk in familial Alzheimer disease

Qiao, M., Lee, A. J., Reyes-Dumeyer, D., Tosto, G., Faber, K., Goate, A., Renton, A., Chao, M., Boeve, B., Cruchaga, C., Pericak-Vance, M., Haines, J. L., Rosenberg, R., Tsuang, D., Sweet, R. A., Bennett, D. A., Wilson, R. S., Foroud, T., Mayeux, R. & Vardarajan, B. N., May 2023, In: Annals of Clinical and Translational Neurology. 10, 5, p. 744-756 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes

International Parkinson’s Disease Genomics Consortium (IPDGC), Dec 2022, In: Molecular Neurodegeneration. 17, 1, 48.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America

for the Dominantly Inherited Alzheimer Network, Dec 2022, In: Alzheimer's Research and Therapy. 14, 1, 108.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups

Kaivola, K., Shah, Z., Chia, R., Black, S. E., Gan-Or, Z., Keith, J., Masellis, M., Rogaeva, E., Brice, A., Lesage, S., Xiromerisiou, G., Calvo, A., Canosa, A., Chio, A., Logroscino, G., Mora, G., Krüger, R., May, P., Alcolea, D., Clarimon, J., & 67 othersFortea, J., Gonzalez-Aramburu, I., Infante, J., Lage, C., Lleó, A., Pastor, P., Sanchez-Juan, P., Brett, F., Aarsland, D., Al-Sarraj, S., Attems, J., Gentleman, S., Hardy, J. A., Hodges, A. K., Love, S., Mckeith, I. G., Morris, C. M., Morris, H. R., Palmer, L., Pickering-Brown, S., Ryten, M., Thomas, A. J., Troakes, C., Albert, M. S., Barrett, M. J., Beach, T. G., Bekris, L. M., Bennett, D. A., Boeve, B. F., Dalgard, C. L., Dawson, T. M., Dickson, D. W., Faber, K., Ferman, T., Ferrucci, L., Flanagan, M. E., Foroud, T. M., Ghetti, B., Gibbs, J. R., Goate, A., Goldstein, D. S., Graff-Radford, N. R., Kaufmann, H., Kukull, W. A., Leverenz, J. B., Mao, Q., Masliah, E., Monuki, E., Newell, K. L., Palma, J. A., Pletnikova, O., Renton, A. E., Resnick, S. M., Rosenthal, L. S., Ross, O. A., Scherzer, C. R., Serrano, G. E., Shakkottai, V. G., Sidransky, E., Tanaka, T., Topol, E., Torkamani, A., Troncoso, J. C., Woltjer, R., Wszolek, Z. K., Scholz, S. W. & Scholz, S. W., 1 May 2022, In: Brain. 145, 5, p. 1757-1762 6 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Genome-wide association study and functional validation implicates JADE1 in tauopathy

Farrell, K., Kim, S. H., Han, N., Iida, M. A., Gonzalez, E. M., Otero-Garcia, M., Walker, J. M., Richardson, T. E., Renton, A. E., Andrews, S. J., Fulton-Howard, B., Humphrey, J., Vialle, R. A., Bowles, K. R., de Paiva Lopes, K., Whitney, K., Dangoor, D. K., Walsh, H., Marcora, E., Hefti, M. M., & 69 othersCasella, A., Sissoko, C. T., Kapoor, M., Novikova, G., Udine, E., Wong, G., Tang, W., Bhangale, T., Hunkapiller, J., Ayalon, G., Graham, R. R., Cherry, J. D., Cortes, E. P., Borukov, V. Y., McKee, A. C., Stein, T. D., Vonsattel, J. P., Teich, A. F., Gearing, M., Glass, J., Troncoso, J. C., Frosch, M. P., Hyman, B. T., Dickson, D. W., Murray, M. E., Attems, J., Flanagan, M. E., Mao, Q., Mesulam, M. M., Weintraub, S., Woltjer, R. L., Pham, T., Kofler, J., Schneider, J. A., Yu, L., Purohit, D. P., Haroutunian, V., Hof, P. R., Gandy, S., Sano, M., Beach, T. G., Poon, W., Kawas, C. H., Corrada, M. M., Rissman, R. A., Metcalf, J., Shuldberg, S., Salehi, B., Nelson, P. T., Trojanowski, J. Q., Lee, E. B., Wolk, D. A., McMillan, C. T., Keene, C. D., Latimer, C. S., Montine, T. J., Kovacs, G. G., Lutz, M. I., Fischer, P., Perrin, R. J., Cairns, N. J., Franklin, E. E., Cohen, H. T., Raj, T., Cobos, I., Frost, B., Goate, A., White, C. L. & Crary, J. F., Jan 2022, In: Acta Neuropathologica. 143, 1, p. 33-53 21 p.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Predicting brain age from functional connectivity in symptomatic and preclinical Alzheimer disease

for the Dominantly Inherited Alzheimer Network, 1 Aug 2022, In: NeuroImage. 256, 119228.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

Soluble TREM2 in CSF and its association with other biomarkers and cognition in autosomal-dominant Alzheimer's disease: a longitudinal observational study

Dominantly Inherited Alzheimer Network, Apr 2022, In: The Lancet Neurology. 21, 4, p. 329-341 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

29 Scopus citations

The National Institute on Aging Late-Onset Alzheimer's Disease Family Based Study: A resource for genetic discovery

Reyes-Dumeyer, D., Faber, K., Vardarajan, B., Goate, A., Renton, A., Chao, M., Boeve, B., Cruchaga, C., Pericak-Vance, M., Haines, J. L., Rosenberg, R., Tsuang, D., Sweet, R. A., Bennett, D. A., Wilson, R. S., Foroud, T. & Mayeux, R., Oct 2022, In: Alzheimer's and Dementia. 18, 10, p. 1889-1897 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Variant-dependent heterogeneity in amyloid β burden in autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analyses of an observational study

Dominantly Inherited Alzheimer's Network Investigators, Feb 2022, In: The Lancet Neurology. 21, 2, p. 140-152 13 p.

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

2021

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., & 269 othersGellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Silani, V., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M. G., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M. & Zucchi, E., 1 Oct 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

17 Scopus citations

Effect of APOE and a polygenic risk score on incident dementia and cognitive decline in a healthy older population

Riaz, M., Huq, A., Ryan, J., Orchard, S. G., Tiller, J., Lockery, J., Woods, R. L., Wolfe, R., Renton, A. E., Goate, A. M., Sebra, R., Schadt, E., Brodtmann, A., Shah, R. C., Storey, E., Murray, A. M., McNeil, J. J. & Lacaze, P., Jun 2021, In: Aging Cell. 20, 6, e13384.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

The American Genome Center, Mar 2021, In: Nature Genetics. 53, 3, p. 294-303 10 p.

Research output: Contribution to journal › Article › peer-review

82 Scopus citations

Large-scale sequencing studies expand the known genetic architecture of Alzheimer's disease

The Alzheimer's Disease Sequencing Project, 2021, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 13, 1, e12255.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

The PROSPECT Consortium, The American Genome Center (TAGC), The FALS Sequencing Consortium, The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium & the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank, 3 Feb 2021, In: Neuron. 109, 3, p. 448-460.e4

Research output: Contribution to journal › Article › peer-review

Open Access

31 Scopus citations

Polygenic score modifies risk for Alzheimer's disease in APOE ε4 homozygotes at phenotypic extremes

Alzheimer's Disease Genetics Consortium, 2021, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 13, 1, e12226.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

2020

A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer’s disease

Zhao, L., Zhang, Z., Rodriguez, S. M. B., Vardarajan, B. N., Renton, A. E., Goate, A. M., Mayeux, R., Wang, G. T. & Leal, S. M., Dec 2020, In: European Journal of Human Genetics. 28, 12, p. 1734-1742 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease

the Dominantly Inherited Alzheimer Network, 1 Mar 2020, In: Nature Medicine. 26, 3, p. 398-407 10 p.

Research output: Contribution to journal › Article › peer-review

221 Scopus citations

The innate immunity protein IFITM3 modulates γ-secretase in Alzheimer’s disease

Hur, J. Y., Frost, G. R., Wu, X., Crump, C., Pan, S. J., Wong, E., Barros, M., Li, T., Nie, P., Zhai, Y., Wang, J. C., Tcw, J., Guo, L., McKenzie, A., Ming, C., Zhou, X., Wang, M., Sagi, Y., Renton, A. E., Esposito, B. T., & 11 othersKim, Y., Sadleir, K. R., Trinh, I., Rissman, R. A., Vassar, R., Zhang, B., Johnson, D. S., Masliah, E., Greengard, P., Goate, A. & Li, Y. M., 29 Oct 2020, In: Nature. 586, 7831, p. 735-740 6 p.

Research output: Contribution to journal › Article › peer-review

128 Scopus citations

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Alzheimer’s Disease Sequencing Project, 1 Aug 2020, In: Molecular Psychiatry. 25, 8, p. 1859-1875 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

118 Scopus citations

Whole genome sequencing identifies loci specifically associated with thoracic aortic wall defects and abdominal aortic aneurysms in patients with European ancestry

Miner, G. H., Renton, A. E., Taubenfeld, E., Tadros, R. O., Marcora, E., Lookstein, R. A., Faries, P. L. & Marin, M. L., Jan 2020, In: JVS-Vascular Science. 1, p. 233-245 13 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2019

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Alzheimer's Disease Sequencing Project, Mar 2019, In: Alzheimer's and Dementia. 15, 3, p. 441-452 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

23 Scopus citations

A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data

Zhao, L., He, Z., Zhang, D., Wang, G. T., Renton, A. E., Vardarajan, B. N., Nothnagel, M., Goate, A. M., Mayeux, R. & Leal, S. M., 3 Oct 2019, In: American Journal of Human Genetics. 105, 4, p. 822-835 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Scopus citations

C9orf72 hexanucleotide repeat length in older population: normal variation and effects on cognition

Kaivola, K., Kiviharju, A., Jansson, L., Rantalainen, V., Eriksson, J. G., Strandberg, T. E., Laaksovirta, H., Renton, A. E., Traynor, B. J., Myllykangas, L. & Tienari, P. J., Dec 2019, In: Neurobiology of Aging. 84, p. 242.e7-242.e12

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

Empirical design of a variant quality control pipeline for whole genome sequencing data using replicate discordance

Adelson, R. P., Renton, A. E., Li, W., Barzilai, N., Atzmon, G., Goate, A. M., Davies, P. & Freudenberg-Hua, Y., 1 Dec 2019, In: Scientific Reports. 9, 1, 16156.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis

The ITALSGEN Consortium & The International ALS Genomics Consortium, 1 Apr 2019, In: Annals of Neurology. 85, 4, p. 470-481 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

92 Scopus citations

2018

Functional annotation of genomic variants in studies of late-onset Alzheimer's disease

Butkiewicz, M., Blue, E. E., Leung, Y. Y., Jian, X., Marcora, E., Renton, A. E., Kuzma, A., Wang, L. S., Koboldt, D. C., Haines, J. L. & Bush, W. S., 15 Aug 2018, In: Bioinformatics. 34, 16, p. 2724-2731 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium & Project MinE ALS Sequencing Consortium, 21 Mar 2018, In: Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journal › Article › peer-review

Open Access

340 Scopus citations

Melatonin receptor type 1A gene linked to Alzheimer's disease in old age

Sulkava, S., Muggalla, P., Sulkava, R., Ollila, H. M., Peuralinna, T., Myllykangas, L., Kaivola, K., Stone, D. J., Traynor, B. J., Renton, A. E., Rivera, A. M., Helisalmi, S., Soininen, H., Polvikoski, T., Hiltunen, M., Tienari, P. J., Huttunen, H. J. & Paunio, T., 1 Jul 2018, In: Sleep. 41, 7

Research output: Contribution to journal › Article › peer-review

Open Access

24 Scopus citations

2017

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

Huang, K. L., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., Chouraki, V., Grenier-Boley, B., Bellenguez, C., Deming, Y., McKenzie, A., Raj, T., Renton, A. E., Budde, J., Smith, A., Fitzpatrick, A., & 27 othersBis, J. C., DeStefano, A., Adams, H. H. H., Ikram, M. A., Van Der Lee, S., Del-Aguila, J. L., Fernandez, M. V., Ibañez, L., Sims, R., Escott-Price, V., Mayeux, R., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lambert, J. C., Van Duijn, C., Launer, L., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G. D., Zhang, B., Borecki, I., Kauwe, J. S. K., Cruchaga, C., Hao, K. & Goate, A. M., 1 Aug 2017, In: Nature Neuroscience. 20, 8, p. 1052-1061 10 p.

Research output: Contribution to journal › Article › peer-review

221 Scopus citations

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

Stopford, M. J., Higginbottom, A., Hautbergue, G. M., Cooper-Knock, J., Mulcahy, P. J., De Vos, K. J., Renton, A. E., Pliner, H., Calvo, A., Chio, A., Traynor, B. J., Azzouz, M., Heath, P. R., Kirby, J. & Shaw, P. J., 15 Mar 2017, In: Human Molecular Genetics. 26, 6, p. 1133-1145 13 p., ddx022.

Research output: Contribution to journal › Article › peer-review

Open Access

18 Scopus citations

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

He, Z., Zhang, D., Renton, A. E., Li, B., Zhao, L., Wang, G. T., Goate, A. M., Mayeux, R. & Leal, S. M., 2 Feb 2017, In: American Journal of Human Genetics. 100, 2, p. 193-204 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Scopus citations

2016

OPTN 691-692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes

Goldstein, O., Nayshool, O., Nefussy, B., Traynor, B. J., Renton, A. E., Gana-Weisz, M., Drory, V. E. & Orr-Urtreger, A., 2 Feb 2016, In: Neurology. 86, 5, p. 446-453 8 p.

Research output: Contribution to journal › Article › peer-review

29 Scopus citations

2015

A genome-wide association study of myasthenia gravis

Renton, A. E., Pliner, H. A., Provenzano, C., Evoli, A., Ricciardi, R., Nalls, M. A., Marangi, G., Abramzon, Y., Arepalli, S., Chong, S., Hernandez, D. G., Johnson, J. O., Bartoccioni, E., Scuderi, F., Maestri, M., Gibbs, J. R., Errichiello, E., Chiò, A., Restagno, G., Sabatelli, M., & 35 othersMacek, M., Scholz, S. W., Corse, A., Chaudhry, V., Benatar, M., Barohn, R. J., McVey, A., Pasnoor, M., Dimachkie, M. M., Rowin, J., Kissel, J., Freimer, M., Kaminski, H. J., Sanders, D. B., Lipscomb, B., Massey, J. M., Chopra, M., Howard, J. F., Koopman, W. J., Nicolle, M. W., Pascuzzi, R. M., Pestronk, A., Wulf, C., Florence, J., Blackmore, D., Soloway, A., Siddiqi, Z., Muppidi, S., Wolfe, G., Richman, D., Mezei, M. M., Jiwa, T., Oger, J., Drachman, D. B. & Traynor, B. J., 1 Apr 2015, In: JAMA Neurology. 72, 4, p. 396-404 9 p.

Research output: Contribution to journal › Article › peer-review

105 Scopus citations

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

the ITALSGEN and SARDINALS consortia, 1 Oct 2015, In: Neurobiology of Aging. 36, 10, p. 2906.e1-2906.e5

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Nalls, M. A., Bras, J., Hernandez, D. G., Keller, M. F., Majounie, E., Renton, A. E., Saad, M., Jansen, I., Guerreiro, R., Lubbe, S., Plagnol, V., Gibbs, J. R., Schulte, C., Pankratz, N., Sutherland, M., Bertram, L., Lill, C. M., Destefano, A. L., Faroud, T., Eriksson, N., & 38 othersTung, J. Y., Edsall, C., Nichols, N., Brooks, J., Arepalli, S., Pliner, H., Letson, C., Heutink, P., Martinez, M., Gasser, T., Traynor, B. J., Wood, N., Hardy, J., Singleton, A. B., Agid, Y., Anheim, M., Bonnet, A. M., Borg, M., Brice, A., Broussolle, E., Corvol, J. C., Damier, P., Destée, A., Dürr, A., Durif, F., Klebe, S., Lohmann, E., Martinez, M., Pollak, P., Rascol, O., Tison, F., Tranchant, C., Vérin, M., Viallet, F., Vidailhet, M., Alpérovitch, A., Berr, C. & Tzourio, C., 1 Mar 2015, In: Neurobiology of Aging. 36, 3, p. 1605.e7-1605.e12

Research output: Contribution to journal › Article › peer-review

77 Scopus citations

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

Fratta, P., Polke, J. M., Newcombe, J., Mizielinska, S., Lashley, T., Poulter, M., Beck, J., Preza, E., Devoy, A., Sidle, K., Howard, R., Malaspina, A., Orrell, R. W., Clarke, J., Lu, C. H., Mok, K., Collins, T., Shoaii, M., Nanji, T., Wray, S., & 10 othersAdamson, G., Pittman, A., Renton, A. E., Traynor, B. J., Sweeney, M. G., Revesz, T., Houlden, H., Mead, S., Isaacs, A. M. & Fisher, E. M. C., 1 Jan 2015, In: Neurobiology of Aging. 36, 1, p. 546.e1-546.e7

Research output: Contribution to journal › Article › peer-review

Open Access

44 Scopus citations

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

Borghero, G., Pugliatti, M., Marrosu, F., Marrosu, M. G., Murru, M. R., Floris, G., Cannas, A., Occhineri, P., Cau, T. B., Loi, D., Ticca, A., Traccis, S., Manera, U., Canosa, A., Moglia, C., Calvo, A., Barberis, M., Brunetti, M., Gibbs, J. R., Renton, A. E., & 85 othersErrichiello, E., Zoledziewska, M., Mulas, A., Qian, Y., Din, J., Pliner, H. A., Traynor, B. J., Chiò, A., Logullo, F. O., Simone, I., Logroscino, G., Salvi, F., Bartolomei, I., Capasso, M., Caponnetto, C., Mandich, P., Mancardi, G., Origone, P., Conforti, F. L., Vita, G., Messina, S., Russo, M., Mora, G., Marinou, K., Sideri, R., Lunetta, C., Penco, S., Mosca, L., Pinter, G. L., Corbo, M., Riva, N., Carrera, P., Volanti, P., Tremolizzo, L., Ferrarese, C., Fini, N., Fasano, A., Monsurrò, M. R., Tedeschi, G., Trojsi, F., Piccirillo, G., Cristillo, V., Mazzini, L., D'Alfonso, S., Bersano, A., Corrado, L., Bagarotti, A., La Bella, V., Spataro, R., Colletti, T., Sabatelli, M., Zollino, M., Conte, A., Luigetti, M., Lattante, S., Marangi, G., Santarelli, M., Petrucci, A., Giannini, F., Battistini, S., Ricci, C., Benigni, M., Restagno, G., Casale, F., Marrali, G., Fuda, G., Ossola, I., Cammarosano, S., Ilardi, A., Bertuzzo, D., Tanel, R., Pisano, F., Costantino, E., Pani, C., Puddu, R., Caredda, C., Piras, V., Tranquilli, S., Cuccu, S., Corongiu, D., Melis, M., Milia, A., Pirisi, A., Parish, L. D. & Ortu, E., 18 Oct 2015, In: Neurobiology of Aging. 43, p. 180.e1-180.e5

Research output: Contribution to journal › Article › peer-review

32 Scopus citations

2014

Genetic architecture of ALS in Sardinia

ITALSGEN & SARDINALS Consortia, 1 Dec 2014, In: Neurobiology of Aging. 35, 12, p. 2882.e7-2882.e12

Research output: Contribution to journal › Article › peer-review

54 Scopus citations

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion

Pletnikova, O., Sloane, K. L., Renton, A. E., Traynor, B. J., Crain, B. J., Reid, T., Zu, T., Ranum, L. P. W., Troncoso, J. C., Rabins, P. V. & Onyike, C. U., Oct 2014, In: Neurobiology of Aging. 35, 10, p. 2419.e17-2419.e21

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

ITALSGEN, 2014, In: Nature Neuroscience. 17, 5, p. 664-666 3 p.

Research output: Contribution to journal › Article › peer-review

318 Scopus citations

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia

Kaivorinne, A. L., Moilanen, V., Kervinen, M., Renton, A. E., Traynor, B. J., Majamaa, K. & Remes, A. M., 2014, In: Alzheimer Disease and Associated Disorders. 28, 2, p. 190-193 4 p.

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

2013

Frontotemporal dementia with a C9ORF72 expansion in a Swedish family: Clinical and neuropathological characteristics

Waldö, M. L., Gustafson, L., Nilsson, K., Traynor, B. J., Renton, A. E., Englund, E. & Passant, U., 15 Dec 2013, In: American Journal of Neurodegenerative Diseases. 2, 4, p. 276-286 11 p.

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

GroupICA dual regression analysis of resting state networks in a behavioral variant of frontotemporal dementia

Rytty, R., Nikkinen, J., Paavola, L., Abou Elseoud, A., Moilanen, V., Visuri, A., Tervonen, O., Renton, A. E., Traynor, B. J., Kiviniemi, V. & Remes, A. M., 26 Aug 2013, In: Frontiers in Human Neuroscience. AUG, 461.

Research output: Contribution to journal › Article › peer-review

Open Access

58 Scopus citations

2012

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

Chiò, A., Restagno, G., Brunetti, M., Ossola, I., Calvo, A., Canosa, A., Moglia, C., Floris, G., Tacconi, P., Marrosu, F., Marrosu, M. G., Murru, M. R., Majounie, E., Renton, A. E., Abramzon, Y., Pugliatti, M., Sotgiu, M. A., Traynor, B. J., Borghero, G., Cammarosano, S., & 12 othersIlardi, A., Montuschi, A., Bersano, E., Cannas, A., Costantino, E., Piras, V., Pani, C., Ticca, A., Parish, L. D., Cossu, P., Solinas, G. & Ulgheri, L., Jul 2012, In: Journal of Neurology, Neurosurgery and Psychiatry. 83, 7, p. 730-733 4 p.

Research output: Contribution to journal › Article › peer-review

49 Scopus citations

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

Sabatelli, M., Conforti, F. L., Zollino, M., Mora, G., Monsurrò, M. R., Volanti, P., Marinou, K., Salvi, F., Corbo, M., Giannini, F., Battistini, S., Penco, S., Lunetta, C., Quattrone, A., Gambardella, A., Logroscino, G., Simone, I., Bartolomei, I., Pisano, F., Tedeschi, G., & 53 othersConte, A., Spataro, R., La Bella, V., Caponnetto, C., Mancardi, G., Mandich, P., Sola, P., Mandrioli, J., Renton, A. E., Majounie, E., Abramzon, Y., Marrosu, F., Marrosu, M. G., Murru, M. R., Sotgiu, M. A., Pugliatti, M., Rodolico, C., Moglia, C., Calvo, A., Ossola, I., Brunetti, M., Traynor, B. J., Borghero, G., Restagno, G., Chiò, A., Cammarosano, S., Fuda, G., Antonio Canosa, C., Gallo, S., Papetti, L., Pharm.D., Pinter, G. L., Luigetti, M., Lattante, S., Marangi, G., Colletti, T., Ricci, C., Origone, P., Floris, G., Cannas, A., Piras, V., Costantino, E., Pani, C., Parish, L. D., Cossu, P., Solinas, G., Ulgheri, L., Ticca, A., Izzo, F., Laiola, A., Trojsi, F., Portaro, S. & Sproviero, W., Aug 2012, In: Neurobiology of Aging. 33, 8, p. 1848.e15-1848.e20

Research output: Contribution to journal › Article › peer-review

68 Scopus citations

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

Chiò, A., Borghero, G., Restagno, G., Mora, G., Drepper, C., Traynor, B. J., Sendtner, M., Brunetti, M., Ossola, I., Calvo, A., Pugliatti, M., Sotgiu, M. A., Murru, M. R., Marrosu, M. G., Marrosu, F., Marinou, K., Mandrioli, J., Sola, P., Caponnetto, C., Mancardi, G., & 48 othersMandich, P., La Bella, V., Spataro, R., Conte, A., Monsurrò, M. R., Tedeschi, G., Pisano, F., Bartolomei, I., Salvi, F., Lauria Pinter, G., Simone, I., Logroscino, G., Gambardella, A., Quattrone, A., Lunetta, C., Volanti, P., Zollino, M., Penco, S., Battistini, S., Renton, A. E., Majounie, E., Abramzon, Y., Conforti, F. L., Giannini, F., Corbo, M., Sabatelli, M., Moglia, C., Cammarosano, S., Fuda, G., Canosa, A., Gallo, S., Papetti, L., Luigetti, M., Lattante, S., Marangi, G., Colletti, T., Ricci, C., Origone, P., Floris, G., Cannas, A., Piras, V., Parish, L. D., Solinas, G., Ulgheri, L., Ticca, A., Izzo, F., Laiola, A. & Trojsi, F., Mar 2012, In: Brain. 135, 3, p. 784-793 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

165 Scopus citations

Extensive genetics of ALS: A population-based study in Italy

Chio, A., Calvo, A., Mazzini, L., Cantello, R., Mora, G., Moglia, C., Corrado, L., D'Alfonso, S., Majounie, E., Renton, A., Pisano, F., Ossola, I., Brunetti, M., Traynor, B. J. & Restagno, G., 6 Nov 2012, In: Neurology. 79, 19, p. 1983-1989 7 p.

Research output: Contribution to journal › Article › peer-review

123 Scopus citations

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

Englund, E., Gustafson, L., Passant, U., Majounie, E., Renton, A. E., Traynor, B. J., Rohrer, J. D., Mok, K. & Hardy, J., Aug 2012, In: Neurobiology of Aging. 33, 8, p. 1850.e13-1850.e16

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Alan E. Renton

Research output

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