Search Results - "Vance, Jeffrey M."

Glutamate receptor gene GRIN2A, coffee, and Parkinson disease by Hamza, Taye H, Hill-Burns, Erin M, Scott, William K, Vance, Jeffrey M, Factor, Stewart A, Zabetian, Cyrus P, Payami, Haydeh

“…  The GRIN2A variants are noncoding, which raises the question of whether they are involved in gene regulation. Since the original publication of GWAIS,…”
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Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy by McLaughlin, Heather M., Sakaguchi, Reiko, Liu, Cuiping, Igarashi, Takao, Pehlivan, Davut, Chu, Kristine, Iyer, Ram, Cruz, Pedro, Cherukuri, Praveen F., Hansen, Nancy F., Mullikin, James C., Biesecker, Leslie G., Wilson, Thomas E., Ionasescu, Victor, Nicholson, Garth, Searby, Charles, Talbot, Kevin, Vance, Jeffrey M., Züchner, Stephan, Szigeti, Kinga, Lupski, James R., Hou, Ya-Ming, Green, Eric D., Antonellis, Anthony

“…Charcot-Marie-Tooth (CMT) disease comprises a genetically and clinically heterogeneous group of peripheral nerve disorders characterized by impaired distal…”
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Admixture mapping identifies novel Alzheimer's disease risk regions in African Americans by Rajabli, Farid, Tosto, Giuseppe, Hamilton‐Nelson, Kara L., Kunkle, Brian W., Vardarajan, Badri N., Naj, Adam, Whitehead, Patrice G., Gardner, Olivia K., Bush, William S., Sariya, Sanjeev, Mayeux, Richard P., Farrer, Lindsay A., Cuccaro, Michael L., Vance, Jeffrey M., Griswold, Anthony J., Schellenberg, Gerard D., Haines, Jonathan L., Byrd, Goldie S., Reitz, Christiane, Beecham, Gary W., Pericak‐Vance, Margaret A., Martin, Eden R.

“…Background This study used admixture mapping to prioritize the genetic regions associated with Alzheimer's disease (AD) in African American (AA) individuals,…”
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Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells by Belle, Kinsley, Shabazz, Francelethia S., Nuytemans, Karen, Davis, David A., Ali, Aleena, Young, Juan L., Scott, William K., Mash, Deborah C., Vance, Jeffrey M., Dykxhoorn, Derek M.

“…•IPSC can be derived rapidly from patient samples retrieved after death.•Postmortem blood drawn within 20h after death can serve as reprogramming…”
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Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease by Kunkle, Brian W, Jaworski, James, Barral, Sandra, Vardarajan, Badri, Beecham, Gary W, Martin, Eden R, Cantwell, Laura S, Partch, Amanda, Bird, Thomas D, Raskind, Wendy H, DeStefano, Anita L, Carney, Regina M, Cuccaro, Michael, Vance, Jeffrey M, Farrer, Lindsay A, Goate, Alison M, Foroud, Tatiana, Mayeux, Richard P, Schellenberg, Gerard D, Haines, Jonathan L, Pericak-Vance, Margaret A

“…Abstract Introduction Few high penetrance variants that explain risk in late-onset Alzheimer's disease (LOAD) families have been found. Methods We performed…”
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Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease by Minear, Mollie A., Crosslin, David R., Sutton, Beth S., Connelly, Jessica J., Nelson, Sarah C., Gadson-Watson, Shera, Wang, Tianyuan, Seo, David, Vance, Jeffrey M., Sketch, Michael H., Haynes, Carol, Goldschmidt-Clermont, Pascal J., Shah, Svati H., Kraus, William E., Hauser, Elizabeth R., Gregory, Simon G.

“…Tenascin-C ( TNC ) is an extracellular matrix protein implicated in biological processes important for atherosclerotic plaque development and progression,…”
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Myotilin is mutated in limb girdle muscular dystrophy 1A by HAUSER, M. A, HORRIGAN, S. K, STAJICH, J. M, GASKELL, P. C, GILBERT, J. R, VANCE, J. M, PERICAK-VANCE, M. A, CARPEN, O, WESTBROOK, C. A, SPEER, M. C, SALMIKANGAS, P, TORIAN, U. M, VILES, K. D, DANCEL, R, TIM, R. W, TAIVAINEN, A, BARTOLONI, L, GILCHRIST, J. M

“…We have identified a mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle…”
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Human whole-exome genotype data for Alzheimer’s disease by Leung, Yuk Yee, Naj, Adam C., Chou, Yi-Fan, Valladares, Otto, Schmidt, Michael, Hamilton-Nelson, Kara, Wheeler, Nicholas, Lin, Honghuang, Gangadharan, Prabhakaran, Qu, Liming, Clark, Kaylyn, Kuzma, Amanda B., Lee, Wan-Ping, Cantwell, Laura, Nicaretta, Heather, Haines, Jonathan, Farrer, Lindsay, Seshadri, Sudha, Brkanac, Zoran, Cruchaga, Carlos, Pericak-Vance, Margaret, Mayeux, Richard P., Bush, William S., Destefano, Anita, Martin, Eden, Schellenberg, Gerard D., Wang, Li-San

“…The heterogeneity of the whole-exome sequencing (WES) data generation methods present a challenge to a joint analysis. Here we present a bioinformatics…”
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Glutamate Receptor Gene GRIN2A , Coffee, and Parkinson Disease: e1004774 by Hamza, Taye H, Hill-Burns, Erin M, Scott, William K, Vance, Jeffrey M, Factor, Stewart A, Zabetian, Cyrus P, Payami, Haydeh

“…The GRIN2A variants are noncoding, which raises the question of whether they are involved in gene regulation. Since the original publication of GWAIS,…”
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Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease by Li, Yi-Ju, Oliveira, Sofia A., Xu, Puting, Martin, Eden R., Stenger, Judith E., Scherzer, Clemens R., Hauser, Michael A., Scott, William K., Small, Gary W., Nance, Martha A., Watts, Ray L., Hubble, Jean P., Koller, William C., Pahwa, Rajesh, Stern, Mathew B., Hiner, Bradley C., Jankovic, Joseph, Goetz, Christopher G., Mastaglia, Frank, Middleton, Lefkos T., Roses, Allen D., Saunders, Ann M., Schmechel, Donald E., Gullans, Steven R., Haines, Jonathan L., Gilbert, John R., Vance, Jeffery M., Pericak-Vance, Margaret A.

“…We previously reported genetic linkage of loci controlling age-at-onset in Alzheimer disease (AD) and Parkinson's disease (PD) to a 15 cM region on chromosome…”
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Genome-wide linkage analyses of non-Hispanic White families identifies novel loci for familial late-onset Alzheimer's disease by Kunkle, Brian W., Jaworski, James, Barral, Sandra, Vardarajan, Badri, Beecham, Gary W., Martin, Eden R., Cantwell, Laura S., Partch, Amanda, Bird, Thomas D., Raskind, Wendy H., DeStefano, Anita L., Carney, Regina M., Cuccaro, Michael, Vance, Jeffrey M., Farrer, Lindsay A., Goate, Alison M., Foroud, Tatiana, Mayeux, Richard P., Schellenberg, Gerard D., Haines, Jonathan L., Pericak-Vance, Margaret A.

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Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease by Kang, Sun J., Scott, William K., Li, Yi-Ju, Hauser, Michael A., van der Walt, Joelle M., Fujiwara, Kenichiro, Mayhew, Gregory M., West, Sandra G., Vance, Jeffery M., Martin, Eden R.

“…Monoamine oxidase (MAO) is an enzyme regulating metabolism of neurotransmitters such as dopamine. Two distinct forms of enzyme, encoded by genes MAOA and MAOB…”
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Mutations in the Pleckstrin Homology Domain of Dynamin 2 Cause Dominant Intermediate Charcot-Marie-Tooth Disease: LBS.002 by Zuchner, Stephan, Noureddine, Maher, Kennerson, Marina, Verhoeven, Kristien, Claeys, Kristl, De Jonghe, Peter, Merory, John, Oliveira, Sofia A., Speer, Marcy C., Stenger, Judith E., Walizada, Gina, Zhu, Danqing, Pericak-Vance, Margaret A., Nicholson, Garth, Timmerman, Vincent, Vance, Jeffrey M.

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Genetic Complexity and Parkinson's Disease by Scott, William K., Stajich, Jeffrey M., Yamaoka, Larry H., Speer, Marcy C., Vance, Jeffery M., Roses, Allen D., Pericak-Vance, Margaret A., Gasser, T., Müller-Myhsok, B., Wszolek, Z. K., Dürr, A., Vaughan, J. R., Bonifati, V., Meco, G., Bereznai, B., Oehlmann, R., Agid, Y., Brice, A., Wood, N., Polymeropoulos, Michael H.

“…The apparent chromosome locus identified in a study of Parkinson's disease (PD) may not be responsible for the majority of inherited idiopathic PD cases. Other…”
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Isolation of genomic DNA from mammalian cells by Gilbert, J R, Vance, J M

“…This unit describes simple, cost-effective preparation of DNA from whole blood or cultured cells that yields high-molecular-weight DNA suitable for both…”
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Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 by Stajich, J M, Gilchrist, J M, Lennon, F, Lee, A, Yamaoka, L, Helms, B, Gaskell, P C, Donald, L, Roses, A D, Vance, J M, Pericak-Vance, M A

“…Oculopharyngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressive ptosis, dysphagia, and extremity weakness…”
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The many faces of Charcot-Marie-Tooth disease by Vance, J M

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Ocular Motility in North Carolina Autosomal Dominant Ataxia by Small, Kent W., Pollock, Stephen C., Vance, Jeffrey M., Stajich, Jeff M., Pericak-Vance, Margaret

“…The term “vestibulocerebellar ataxia” has been applied to a rare, autosomal dominant, late-onset disease with unusual ocular motility findings. We examined the…”
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