Exome Analysis of Two Limb-Girdle Muscular Dystrophy Families: Mutations Identified and Challenges Encountered

Por McDonald, Kristin K., Stajich, Jeffrey, Blach, Colette, Ashley-Koch, Allison E., Hauser, Michael A.
Publicado em 2012

Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari Type I Malformation

Por MARKUNAS, CHRISTINA A., ENTERLINE, DAVID S., DUNLAP, KAITLYN, SOLDANO, KAREN, COPE, HEIDI, STAJICH, JEFFREY, GRANT, GERALD, FUCHS, HERBERT, GREGORY, SIMON G., ASHLEY-KOCH, ALLISON E.
Publicado em 2013

Pesticide exposure and risk of Parkinson's disease: A family-based case-control study

Por Hancock, Dana B, Martin, Eden R, Mayhew, Gregory M, Stajich, Jeffrey M, Jewett, Rita, Stacy, Mark A, Scott, Burton L, Vance, Jeffery M, Scott, William K
Publicado em 2008

Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates

Por Markunas, Christina A., Soldano, Karen, Dunlap, Kaitlyn, Cope, Heidi, Asiimwe, Edgar, Stajich, Jeffrey, Enterline, David, Grant, Gerald, Fuchs, Herbert, Gregory, Simon G., Ashley-Koch, Allison E.
Publicado em 2013

Fibroblast Growth Factor 20 Polymorphisms and Haplotypes Strongly Influence Risk of Parkinson Disease

Por van der Walt, Joelle M., Noureddine, Maher A., Kittappa, Raja, Hauser, Michael A., Scott, William K., McKay, Ron, Zhang, Fengyu, Stajich, Jeffrey M., Fujiwara, Kenichiro, Scott, Burton L., Pericak-Vance, Margaret A., Vance, Jeffery M., Martin, Eden R.
Publicado em 2004

Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q

Por Speer, Marcy C., Yamaoka, Larry H., Gilchrist, James H., Gaskell, C. P., Stajich, Jeffrey M., Vance, Jeffery M., Kazantsev, Alexey, Lastra, Anselmo A., Haynes, Carol S., Beckmann, Jacques S., Cohen, Daniel, Weber, James L., Roses, Allen D., Pericak-Vance, Margaret A.
Publicado em 1992

Evidence for Locus Heterogeneity in Autosomal Dominant Limb-Girdle Muscular Dystrophy

Por Speer, Marcy C., Gilchrist, James M., Chutkow, Jerry G., McMichael, Robert, Westbrook, Carol A., Stajich, Jeffrey M., Jorgenson, Eric M., Gaskell, P. Craig, Rosi, Barbara L., Ramesar, Raj, Vance, Jeffery M., Yamaoka, Larry H., Roses, Allen D., Pericak-Vance, Margaret A.
Publicado em 1995

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

Por Edwards, Todd L., Scott, William K., Almonte, Cherylyn, Burt, Amber, Powell, Eric H., Beecham, Gary W., Wang, Liyong, Züchner, Stephan, Konidari, Ioanna, Wang, Gaofeng, Singer, Carlos, Nahab, Fatta, Scott, Burton, Stajich, Jeffrey M., Pericak-Vance, Margaret, Haines, Jonathan, Vance, Jeffery M., Martin, Eden R.
Publicado em 2010

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Por Sarparanta, Jaakko, Jonson, Per Harald, Golzio, Christelle, Sandell, Satu, Luque, Helena, Screen, Mark, McDonald, Kristin, Stajich, Jeffrey M., Mahjneh, Ibrahim, Vihola, Anna, Raheem, Olayinka, Penttilä, Sini, Lehtinen, Sara, Huovinen, Sanna, Palmio, Johanna, Tasca, Giorgio, Ricci, Enzo, Hackman, Peter, Hauser, Michael, Katsanis, Nicholas, Udd, Bjarne
Publicado em 2012

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

Por van der Walt, Joelle M., Nicodemus, Kristin K., Martin, Eden R., Scott, William K., Nance, Martha A., Watts, Ray L., Hubble, Jean P., Haines, Jonathan L., Koller, William C., Lyons, Kelly, Pahwa, Rajesh, Stern, Matthew B., Colcher, Amy, Hiner, Bradley C., Jankovic, Joseph, Ondo, William G., Allen Jr., Fred H., Goetz, Christopher G., Small, Gary W., Mastaglia, Frank, Stajich, Jeffrey M., McLaurin, Adam C., Middleton, Lefkos T., Scott, Burton L., Schmechel, Donald E., Pericak-Vance, Margaret A., Vance, Jeffery M.
Publicado em 2003

Age at Onset in Two Common Neurodegenerative Diseases Is Genetically Controlled

Por Li, Yi-Ju, Scott, William K., Hedges, Dale J., Zhang, Fengyu, Gaskell, P. Craig, Nance, Martha A., Watts, Ray L., Hubble, Jean P., Koller, William C., Pahwa, Rajesh, Stern, Matthew B., Hiner, Bradley C., Jankovic, Joseph, Allen, Jr., Fred H., Goetz, Christopher G., Mastaglia, Frank, Stajich, Jeffrey M., Gibson, Rachel A., Middleton, Lefkos T., Saunders, Ann M., Scott, Burton L., Small, Gary W., Nicodemus, Kristin K., Reed, Allison D., Schmechel, Donald E., Welsh-Bohmer, Kathleen A., Conneally, P. Michael, Roses, Allen D., Gilbert, John R., Vance, Jeffery M., Haines, Jonathan L., Pericak-Vance, Margaret A.
Publicado em 2002

Association of Single-Nucleotide Polymorphisms of the Tau Gene With Late-Onset Parkinson Disease

Por Martin, Eden R., Scott, William K., Nance, Martha A., Watts, Ray L., Hubble, Jean P., Koller, William C., Lyons, Kelly, Pahwa, Rajesh, Stern, Matthew B., Colcher, Amy, Hiner, Bradley C., Jankovic, Joseph, Ondo, William G., Allen, Fred H., Goetz, Christopher G., Small, Gary W., Masterman, Donna, Mastaglia, Frank, Laing, Nigel G., Stajich, Jeffrey M., Ribble, Robert C., Booze, Michael W., Rogala, Allison, Hauser, Michael A., Zhang, Fengyu, Gibson, Rachel A., Middleton, Lefkos T., Roses, Allen D., Haines, Jonathan L., Scott, Burton L., Pericak-Vance, Margaret A., Vance, Jeffery M.
Publicado em 2001