Variation in GIGYF2 is not associated with Parkinson disease

Autor: Diane Kissell, Kristi A. Clark, Tatiana Foroud, Ronald F. Pfeiffer, V. E. Elsaesser, Alice Rudolph, William C. Nichols, Joanne Wojcieszek, Cheryl Halter, Michael W. Pauciulo, Nathan Pankratz

Publikováno v: Neurology. 72:1886-1892

Objective: A recent study reported that mutations in a gene on chromosome 2q36-37, GIGYF2 , result in Parkinson disease (PD). We have previously reported linkage to this chromosomal region in a sample of multiplex PD families, with the strongest evid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732a67ce8c450f384c38d5e740111f51
https://doi.org/10.1212/01.wnl.0000346517.98982.1b

Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease

Autor: S. Chouinard, A. Kaczmarek, Susan Mendick, Sharon Evans, P. M. Conneally, Roberta Winnick, Andrew Feigin, L. Elmer, Nathan Pankratz, Barbara Shannon, E. Aiken, T. Ajax, C. Horn, Christine Hunter, J. Mannetter, Margaret F. Turk, Donald S. Higgins, Miodrag Velickovic, C. Dingmann, Maryan DeAngelis, Kapil D. Sethi, M. Marotta-Kollarus, L. Woodward, M. Stacy, Cheyl A. Halter, Karen Williams, Carolyn Peterson, Nestor Galvez-Jimenez, Margaret C. Lannon, C. Schell, Kelvin L. Chou, Tatyana Simuni, H. Poiffaut, Stewart A. Factor, H. Shill, Joseph Jankovic, Michel Panisset, Tatiana Foroud, Juliette Harris, Deborah Judd, A. Podichetty, S. Phipps, Kathy Davis, Joann Belden, V. E. Elsaesser, S. Narayan, J. Fraser, Clifford W. Shults, K. Williamson, Aileen Shinaman, S. Wilson, William C. Nichols, L. Marlor, John M. Bertoni, Joanne Wojcieszek, Cheryl Halter, Kenneth Marek, P. Ryan, Alice Rudolph, Christopher F. O'Brien, Karen Blindauer, Karyn Boyar, Jayaraman Rao, Kelly E. Lyons, Becky Dunlop, C. Costan-Toth, Lauren Seeberger, Ryan J. Uitti, Karen Marder, Stephen G. Reich, David Oakes, Lisa Scollins, Jean Hall, Joanna Hamann, Mandar Jog, Eric Siemers, E. Ohmann, E. Licari, Frederick J. Marshall, Mark Forrest Gordon, Maureen Cook, Peter A. LeWitt, Vincent Calabrese, Jeannine Petit, Diane K. Marek, Rachel Saunders-Pullman, Peggy Roberge, C. Joubert, Hubert H. Fernandez, K. Ligon, J. Carpenter, Lewis Sudarsky, J. Danielson, William C. Koller, David Simon, Michael W. Pauciulo, Danna Jennings, Joseph H. Friedman, Cliff Shults

Publikováno v: Movement Disorders. 21:2257-2260

A total of 956 individuals with Parkinson's disease (PD) from 430 multiplex PD pedigrees were screened for 12 previously reported, pathogenic LRRK2 mutations: R793M, L1114L, I1371V, R1441C, R1441G, R1441H, Y1699C, M1869T, I2012T, I2020T, G2385R, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a3fcbe58940aa04e1e1d38e05490b3
https://doi.org/10.1002/mds.21162

Mutations in DJ-1 are rare in familial Parkinson disease

Autor: Alice Rudolph, Michael W. Pauciulo, V. E. Elsaesser, Cheryl Halter, William C. Nichols, Diane K. Marek, Tatiana Foroud, Clifford W. Shults, Joanne Wojcieszek, Nathan Pankratz

Publikováno v: Neuroscience letters. 408(3)

Mutations in DJ-1 (PARK7) are one cause of early-onset autosomal-recessive parkinsonism. We screened for DJ-1 mutations in 93 affected individuals from the 64 multiplex Parkinson disease (PD) families in our sample that had the highest family-specifi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2da20f9d96bed2e843c6dbecf0295058
https://pubmed.ncbi.nlm.nih.gov/16997464