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  • Jeffery M Vance
2019

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE) & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Sep 1 2019, In : Nature genetics. 51, 9, p. 1423-1424 2 p.

Research output: Contribution to journalComment/debate

Open Access

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In : Nature genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

161 Scopus citations

Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease

Young, J. I., Sivasankaran, S. K., Wang, L., Ali, A., Mehta, A., Davis, D. A., Dykxhoorn, D. M., Petito, C. K., Beecham, G. W., Martin, E. R., Mash, D. C., Pericak-Vance, M., Scott, W. K., Montine, T. J. & Vance, J. M., Aug 1 2019, In : Neurology: Genetics. 5, 4, 342.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations
Open Access

RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways

Gardner, O. K., Wang, L., Van Booven, D., Whitehead, P. L., Hamilton-Nelson, K. L., Adams, L. D., Starks, T. D., Hofmann, N. K., Vance, J. M., Cuccaro, M. L., Martin, E. R., Byrd, G. S., Haines, J. L., Bush, W. S., Beecham, G. W., Pericak-Vance, M. A. & Griswold, A. J., Sep 15 2019, In : Human molecular genetics. 28, 18, p. 3053-3061 9 p.

Research output: Contribution to journalArticle

The Puerto Rico Alzheimer disease initiative (PRADI): A multisource ascertainment approach

Feliciano-Astacio, B. E., Celis, K., Ramos, J., Rajabli, F., Adams, L. D., Rodriguez, A., Rodriguez, V., Bussies, P. L., Sierra, C., Manrique, P., Mena, P. R., Grana, A., Prough, M., Hamilton-Nelson, K. L., Feliciano, N., Chinea, A., Acosta, H., McCauley, J. L., Vance, J. M., Beecham, G. W. & 2 others, Pericak-Vance, M. A. & Cuccaro, M. L., 2019, In : Frontiers in Genetics. 10, JUN, 538.

Research output: Contribution to journalArticle

Open Access
2018

2017 year in review and message from the editors to our reviewers

Pulst, S. M., Johnson, N. E., Pandolfo, M., Roos, R. P. & Vance, J. M., Feb 1 2018, In : Neurology: Genetics. 4, 1, e221.

Research output: Contribution to journalReview article

Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations

Rajabli, F., Feliciano, B. E., Celis, K., Hamilton-Nelson, K. L., Whitehead, P. L., Adams, L. D., Bussies, P. L., Manrique, C. P., Rodriguez, A., Rodriguez, V., Starks, T., Byfield, G. E., Sierra Lopez, C. B., McCauley, J. L., Acosta, H., Chinea, A., Kunkle, B. W., Reitz, C., Farrer, L. A., Schellenberg, G. D. & 8 others, Vardarajan, B. N., Vance, J. M., Cuccaro, M. L., Martin, E. R., Haines, J. L., Byrd, G. S., Beecham, G. W. & Pericak-Vance, M. A., Dec 2018, In : PLoS genetics. 14, 12, e1007791.

Research output: Contribution to journalArticle

Open Access
12 Scopus citations

Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons

Derosa, B. A., El Hokayem, J., Artimovich, E., Garcia-Serje, C., Phillips, A. W., Van Booven, D., Nestor, J. E., Wang, L., Cuccaro, M. L., Vance, J. M., Pericak-Vance, M. A., Cukier, H. N., Nestor, M. W. & Dykxhoorn, D. M., Dec 1 2018, In : Scientific Reports. 8, 1, 8423.

Research output: Contribution to journalArticle

27 Scopus citations

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

Hui, K. Y., Fernandez-Hernandez, H., Hu, J., Schaffner, A., Pankratz, N., Hsu, N. Y., Chuang, L. S., Carmi, S., Villaverde, N., Li, X., Rivas, M., Levine, A. P., Bao, X., Labrias, P. R., Haritunians, T., Ruane, D., Gettler, K., Chen, E., Li, D., Schiff, E. R. & 31 others, Pontikos, N., Barzilai, N., Brant, S. R., Bressman, S., Cheifetz, A. S., Clark, L. N., Daly, M. J., Desnick, R. J., Duerr, R. H., Katz, S., Lencz, T., Myers, R. H., Ostrer, H., Ozelius, L., Payami, H., Peter, Y., Rioux, J. D., Segal, A. W., Scott, W. K., Silverberg, M. S., Vance, J. M., Ubarretxena-Belandia, I., Foroud, T., Atzmon, G., Pe'er, I., Ioannou, Y., McGovern, D. P. B., Yue, Z., Schadt, E. E., Cho, J. H. & Peter, I., Jan 10 2018, In : Science Translational Medicine. 10, 423, eaai7795.

Research output: Contribution to journalArticle

74 Scopus citations

Variants in chondroitin sulfate metabolism genes in thrombotic storm

Nuytemans, K., Ortel, T. L., Gomez, L., Hofmann, N., Alves, N., Dueker, N., Beecham, A., Whitehead, P., Hahn Estabrooks, S., Kitchens, C. S., Erkan, D., Brandão, L. R., James, A. H., Kulkarni, R., Manco-Johnson, M. J., Pericak-Vance, M. A. & Vance, J. M., Jan 1 2018, In : Thrombosis Research. 161, p. 43-51 9 p.

Research output: Contribution to journalArticle

2017

Early-onset Alzheimer disease and candidate risk genes involved in endolysosomal transport

Kunkle, B. W., Vardarajan, B. N., Naj, A. C., Whitehead, P. L., Rolati, S., Slifer, S., Carney, R. M., Cuccaro, M. L., Vance, J. M., Gilbert, J. R., Wang, L. S., Farrer, L. A., Reitz, C., Haines, J. L., Beecham, G. W., Martin, E. R., Schellenberg, G. D., Mayeux, R. P. & Pericak-Vance, M. A., Sep 2017, In : JAMA Neurology. 74, 9, p. 1113-1122 10 p.

Research output: Contribution to journalArticle

11 Scopus citations

Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells

Belle, K., Shabazz, F. S., Nuytemans, K., Davis, D. A., Ali, A., Young, J., Scott, W. K., Mash, D. C., Vance, J. M. & Dykxhoorn, D. M., Jan 10 2017, In : Neuroscience Letters. 637, p. 201-206 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson’s Disease

Wang, X., Li, N., Xiong, N., You, Q., Li, J., Yu, J., Qing, H., Wang, T., Cordell, H. J., Isacson, O., Vance, J. M., Martin, E. R., Zhao, Y., Cohen, B. M., Buttner, E. A. & Lin, Z., May 1 2017, In : Molecular Neurobiology. 54, 4, p. 2878-2888 11 p.

Research output: Contribution to journalArticle

11 Scopus citations

Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

Kunkle, B. W., Carney, R. M., Kohli, M. A., Naj, A. C., Hamilton-Nelson, K. L., Whitehead, P. L., Wang, L., Lang, R., Cuccaro, M. L., Vance, J. M., Byrd, G. S., Beecham, G. W., Gilbert, J. R., Martin, E. R., Haines, J. L. & Pericak-Vance, M. A., May 10 2017, In : Neuroscience Letters. 649, p. 124-129 6 p.

Research output: Contribution to journalArticle

4 Scopus citations

Transcriptomic analysis of synovial extracellular RNA following knee trauma: A pilot study

Griswold, A., Perez, J., Nuytemans, K., Strong, T. A., Wang, L., Vance, D. D., Ennis, H., Smith, M. K., Best, T., Vance, J. M., Pericak-Vance, M. A. & Kaplan, L., Jan 1 2017, (Accepted/In press) In : Journal of Orthopaedic Research.

Research output: Contribution to journalArticle

3 Scopus citations
2016

2016 in review and message from the Editors to Our Reviewers

Pulst, S. M., Johnson, N. E., Durr, A., Pandolfo, M., Roos, R. P. & Vance, J. M., Jan 1 2016, In : Neurology: Genetics. 3, 1, e132.

Research output: Contribution to journalReview article

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Cukier, H. N., Kunkle, B. W., Vardarajan, B. N., Rolati, S., Hamilton-Nelson, K. L., Kohli, M. A., Whitehead, P. L., Dombroski, B. A., Van Booven, D., Lang, R., Dykxhoorn, D. M., Farrer, L. A., Cuccaro, M. L., Vance, J. M., Gilbert, J. R., Beecham, G. W., Martin, E. R., Carney, R. M., Mayeux, R., Schellenberg, G. D. & 3 others, Byrd, G. S., Haines, J. L. & Pericak-Vance, M. A., Jun 1 2016, In : Neurology: Genetics. 2, 3, e79.

Research output: Contribution to journalArticle

20 Scopus citations

DNA variants in CACNA1C modify Parkinson disease risk only when Vitamin D level is deficient

Wang, L., Maldonado, L., Beecham, G. W., Martin, E. R., Evatt, M. L., Ritchie, J. C., Haines, J. L., Zabetian, C. P., Payami, H., Pericak-Vance, M. A., Vance, J. M. & Scott, W. K., Jun 1 2016, In : Neurology: Genetics. 2, 3, e72.

Research output: Contribution to journalArticle

5 Scopus citations

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

Kunkle, B. W., Jaworski, J., Barral, S., Vardarajan, B., Beecham, G. W., Martin, E. R., Cantwell, L. S., Partch, A., Bird, T. D., Raskind, W. H., Destefano, A. L., Carney, R. M., Cuccaro, M., Vance, J. M., Farrer, L. A., Goate, A. M., Foroud, T., Mayeux, R. P., Schellenberg, G. D., Haines, J. L. & 1 others, Pericak-Vance, M. A., Jan 1 2016, In : Alzheimer's and Dementia. 12, 1, p. 2-10 9 p.

Research output: Contribution to journalArticle

11 Scopus citations

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk

Alzheimer Disease Genetics Consortium, Mar 1 2016, In : Alzheimer's and Dementia. 12, 3, p. 233-243 11 p.

Research output: Contribution to journalArticle

11 Scopus citations

GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis

Hussman, J. P., Beecham, A. H., Schmidt, M., Martin, E. R., McCauley, J. L., Vance, J. M., Haines, J. L. & Pericak-Vance, M. A., Jun 9 2016, (Accepted/In press) In : Genes and Immunity.

Research output: Contribution to journalArticle

28 Scopus citations

hVMAT2: A Target of Individualized Medication for Parkinson’s Disease

Xiong, N., Li, N., Martin, E., Yu, J., Li, J., Liu, J., Lee, D. Y. W., Isacson, O., Vance, J., Qing, H., Wang, T. & Lin, Z., Jul 1 2016, In : Neurotherapeutics. 13, 3, p. 623-634 12 p.

Research output: Contribution to journalArticle

4 Scopus citations

Identification of TMEM230 mutations in familial Parkinson's disease

Deng, H. X., Shi, Y., Yang, Y., Ahmeti, K. B., Miller, N., Huang, C., Cheng, L., Zhai, H., Deng, S., Nuytemans, K., Corbett, N. J., Kim, M. J., Deng, H., Tang, B., Yang, Z., Xu, Y., Chan, P., Huang, B., Gao, X. P., Song, Z. & 14 others, Liu, Z., Fecto, F., Siddique, N., Foroud, T., Jankovic, J., Ghetti, B., Nicholson, D. A., Krainc, D., Melen, O., Vance, J. M., Pericak-Vance, M. A., Ma, Y. C., Rajput, A. H. & Siddique, T., Jul 1 2016, In : Nature Genetics. 48, 7, p. 733-739 7 p.

Research output: Contribution to journalArticle

90 Scopus citations

Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants

Nuytemans, K., Maldonado, L., Ali, A., John-Williams, K., Beecham, G. W., Martin, E., Scott, W. K. & Vance, J. M., Feb 1 2016, In : Neurology: Genetics. 2, 1, e44.

Research output: Contribution to journalArticle

12 Scopus citations

Regional Differential Genetic Response of Human Articular Cartilage to Impact Injury

Vernon, L. L., Vance, D. D., Wang, L., Rampersaud, E., Vance, J. M., Pericak-Vance, M., Huang, C. Y. C. & Kaplan, L. D., Apr 1 2016, In : Cartilage. 7, 2, p. 163-173 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

Kohli, M. A., Cukier, H. N., Hamilton-Nelson, K. L., Rolati, S., Kunkle, B. W., Whitehead, P. L., Züchner, S. L., Farrer, L. A., Martin, E. R., Beecham, G. W., Haines, J. L., Vance, J. M., Cuccaro, M. L., Gilbert, J. R., Schellenberg, G. D., Carney, R. M. & Pericak-Vance, M. A., Feb 1 2016, In : Neurology: Genetics. 2, 1, e41.

Research output: Contribution to journalArticle

21 Scopus citations
2015

HVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

DeRosa, B. A., Belle, K. C., Thomas, B. J., Cukier, H. N., Pericak-Vance, M. A., Vance, J. M. & Dykxhoorn, D. M., Sep 1 2015, In : Molecular and Cellular Neuroscience. 68, p. 244-257 14 p., 3018.

Research output: Contribution to journalArticle

13 Scopus citations

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

Beecham, G. W., Dickson, D. W., Scott, W. K., Martin, E. R., Schellenberg, G., Nuytemans, K., Larson, E. B., Buxbaum, J. D., Trojanowski, J. Q., Van Deerlin, V. M., Hurtig, H. I., Mash, D. C., Beach, T. G., Troncoso, J. C., Pletnikova, O., Frosch, M. P., Ghetti, B., Foroud, T. M., Honig, L. S., Marder, K. & 12 others, Vonsattel, J. P., Goldman, S. M., Vinters, H. V., Ross, O. A., Wszolek, Z. K., Wang, L., Dykxhoorn, D. M., Pericak-Vance, M. A., Montine, T. J., Leverenz, J. B., Dawson, T. M. & Vance, J. M., Mar 10 2015, In : Neurology. 84, 10, p. 972-980 9 p.

Research output: Contribution to journalArticle

28 Scopus citations

Vitamin D from different sources is inversely associated with Parkinson disease

Wang, L., Evatt, M. L., Maldonado, L. G., Perry, W. R., Ritchie, J. C., Beecham, G. W., Martin, E. R., Haines, J. L., Pericak-Vance, M. A., Vance, J. M. & Scott, W. K., Apr 1 2015, In : Movement Disorders. 30, 4, p. 560-566 7 p.

Research output: Contribution to journalArticle

31 Scopus citations
2014

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease

Nuytemans, K., Inchausti, V., Beecham, G. W., Wang, L., Dickson, D. W., Trojanowski, J. Q., Lee, V. M. Y., Mash, D. C., Frosch, M. P., Foroud, T. M., Honig, L. S., Montine, T. J., Dawson, T. M., Martin, E. R., Scott, W. K. & Vance, J. M., May 2014, In : Movement Disorders. 29, 6, p. 827-830 4 p.

Research output: Contribution to journalArticle

18 Scopus citations

A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)

Mclaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Lee, Y. C., Kennerson, M., Hou, Y. M., Nicholson, G. & Antonellis, A., Apr 2014, In : Human mutation. 35, 4, p. 512 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Detecting genetic interactions in pathway-based genome-wide association studies

Huang, A., Martin, E. R., Vance, J. M. & Cai, X., May 2014, In : Genetic Epidemiology. 38, 4, p. 300-309 10 p.

Research output: Contribution to journalArticle

10 Scopus citations

Glutamate Receptor Gene GRIN2A, Coffee, and Parkinson Disease

Hamza, T. H., Hill-Burns, E. M., Scott, W. K., Vance, J. M., Factor, S. A., Zabetian, C. P. & Payami, H., Nov 1 2014, In : PLoS genetics. 10, 11

Research output: Contribution to journalArticle

7 Scopus citations
6 Scopus citations

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

GenePD, NeuroGenetics Research Consortium (NGRC), Hussman Institute of Human Genomics (HIHG), The Ashkenazi Jewish Dataset Investigator, Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE), North American Brain Expression Consortium (NABEC), United Kingdom Brain Expression Consortium (UKBEC), Greek Parkinson’s Disease Consortium, Alzheimer Genetic Analysis Group, International Parkinson’s Disease Genomics Consortium (IPDGC), Parkinson’s Study Group (PSG) Parkinson’s Research: The Organized GENetics Initiative (PROGENI) & 23andMe, 2014, In : Nature genetics. 46, 9, p. 989-993 5 p.

Research output: Contribution to journalArticle

864 Scopus citations
4 Scopus citations
2013

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Vester, A., Velez-Ruiz, G., McLaughlin, H. M., Nisc Comparative Sequencing Program, C. S. P., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Roda, R. H., Fischbeck, K. H., Biesecker, L. G., Nicholson, G., Beg, A. A. & Antonellis, A., Jan 1 2013, In : Human mutation. 34, 1, p. 191-199 9 p.

Research output: Contribution to journalArticle

66 Scopus citations

C9orf72 intermediate repeat copies are a significant risk factor for parkinson disease

Nuytemans, K., Bademci, G., Kohli, M. M., Beecham, G. W., Wang, L., Young, J. I., Nahab, F., Martin, E. R., Gilbert, J. R., Benatar, M., Haines, J. L., Scott, W. K., Züchner, S., Pericak-Vance, M. A. & Vance, J. M., Sep 2013, In : Annals of Human Genetics. 77, 5, p. 351-363 13 p.

Research output: Contribution to journalArticle

46 Scopus citations

Genomic Signatures of a Global Fitness Index in a Multi-Ethnic Cohort of Women

Rampersaud, E., Nathanson, L., Farmer, J., Meshbane, K., Belton, R. L., Dressen, A., Cuccaro, M., Musto, A., Daunert, S., Deo, S., Hudson, N., Vance, J. M., Seo, D., Mendez, A., Dykxhoorn, D. M., Pericak-Vance, M. A. & Goldschmidt-Clermont, P. J., Mar 1 2013, In : Annals of Human Genetics. 77, 2, p. 147-157 11 p.

Research output: Contribution to journalArticle

4 Scopus citations
12 Scopus citations

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Nuytemans, K., Bademci, G., Inchausti, V., Dressen, A., Kinnamon, D. D., Mehta, A., Wang, L., Züchner, S., Beecham, G. W., Martin, E. R., Scott, W. K. & Vance, J. M., Mar 12 2013, In : Neurology. 80, 11, p. 982-989 8 p.

Research output: Contribution to journalArticle

51 Scopus citations
2012

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with charcot-marie-tooth disease type 2N (CMT2N)

McLaughlin, H. M., Sakaguchi, R., Giblin, W., Wilson, T. E., Biesecker, L., Lupski, J. R., Talbot, K., Vance, J. M., Züchner, S., Lee, Y. C., Kennerson, M., Hou, Y. M., Nicholson, G. & Antonellis, A., Jan 1 2012, In : Human mutation. 33, 1, p. 244-253 10 p.

Research output: Contribution to journalArticle

56 Scopus citations

Clinical causes and treatment of the thrombotic storm

Ortel, T. L., Kitchens, C. S., Erkan, D., Brandão, L. R., Hahn, S. E., James, A. H., Kulkarni, R., Manco-Johnson, M. J., Pericak-Vance, M. & Vance, J., Dec 2012, In : Expert Review of Hematology. 5, 6, p. 653-659 7 p.

Research output: Contribution to journalReview article

13 Scopus citations

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDgene database

Lill, C. M., Roehr, J. T., McQueen, M. B., Kavvoura, F. K., Bagade, S., Schjeide, B. M. M., Schjeide, L. M., Meissner, E., Zauft, U., Allen, N. C., Liu, T., Schilling, M., Anderson, K. J., Beecham, G., Berg, D., Biernacka, J. M., Brice, A., DeStefano, A. L., Do, C. B., Eriksson, N. & 34 others, Factor, S. A., Farrer, M. J., Foroud, T., Gasser, T., Hamza, T., Hardy, J. A., Heutink, P., Hill-Burns, E. M., Klein, C., Latourelle, J. C., Maraganore, D. M., Martin, E. R., Martinez, M., Myers, R. H., Nalls, M. A., Pankratz, N., Payami, H., Satake, W., Scott, W. K., Sharma, M., Singleton, A. B., Stefansson, K., Toda, T., Tung, J. Y., Vance, J., Wood, N. W., Zabetian, C. P., Young, P., Tanzi, R. E., Khoury, M. J., Zipp, F., Lehrach, H., Ioannidis, J. P. A. & Bertram, L., Mar 2012, In : PLoS genetics. 8, 3, e1002548.

Research output: Contribution to journalArticle

367 Scopus citations

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells

DeRosa, B. A., Van Baaren, J. M., Dubey, G. K., Lee, J. M., Cuccaro, M. L., Vance, J. M., Pericak-Vance, M. A. & Dykxhoorn, D. M., May 10 2012, In : Neuroscience Letters. 516, 1, p. 9-14 6 p.

Research output: Contribution to journalArticle

45 Scopus citations

Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation

Dumitriu, A., Latourelle, J. C., Hadzi, T. C., Pankratz, N., Garza, D., Miller, J. P., Vance, J. M., Foroud, T., Beach, T. G. & Myers, R. H., Jun 1 2012, In : PLoS genetics. 8, 6, e1002794.

Research output: Contribution to journalArticle

42 Scopus citations

Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

Pankratz, N., Beecham, G. W., Destefano, A. L., Dawson, T. M., Doheny, K. F., Factor, S. A., Hamza, T. H., Hung, A. Y., Hyman, B. T., Ivinson, A. J., Krainc, D., Latourelle, J. C., Clark, L. N., Marder, K., Martin, E. R., Mayeux, R., Ross, O. A., Scherzer, C. R., Simon, D. K., Tanner, C. & 7 others, Vance, J. M., Wszolek, Z. K., Zabetian, C. P., Myers, R. H., Payami, H., Scott, W. K. & Foroud, T., Mar 1 2012, In : Annals of neurology. 71, 3, p. 370-384 15 p.

Research output: Contribution to journalArticle

156 Scopus citations

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D'Aloia, M., Montieri, P., Schüle, R., Ishiura, H., Price, J., Strickland, A., Gonzalez, M. A., Baumbach-Reardon, L., Deconinck, T., Huang, J., Bernardi, G., Vance, J. M., Rogers, M. T., Tsuji, S., De Jonghe, P. & 5 others, Pericak-Vance, M. A., Schöls, L., Orlacchio, A., Reid, E. & Züchner, S., Feb 2012, In : Journal of Clinical Investigation. 122, 2, p. 538-544 7 p.

Research output: Contribution to journalArticle

94 Scopus citations
60 Scopus citations