Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease

Autor: Francis O. Walker, Juliette Harris, Holly Delgado, David Simon, Paul J. Tuite, Jayaraman Rao, Kelly E. Lyons, Tilak Mendis, Bala V. Manyam, Joanna Hamman, Deborah Fontaine, Terry Reed, William C. Nichols, Sharon Evans, Joanne Wojcieszek, Peggy Gray, Anette Nieves, Carson Reider, P. Michael Conneally, W.R. Wayne Martin, Kathy Davis, Christine Hunter, Daniel D. Truong, John M. Bertoni, Hubert H. Fernandez, Joseph H. Friedman, Nathan Pankratz, Margaret C. Lannon, Kenneth Marek, Maryan DeAngelis, Mark Stacy, Debra Berry, Mariann DiMinno, Robyn Schacherer, Becky Dunlop, Michel Panisset, Carmen Serrano Ramos, Alice Rudolph, Tatiana Foroud, Theresa A. Zesiewicz, David Grimes, An Tran, Joan Werner, Jean Hall, Sandra Roque, Magali Fernandez, Joseph Jankovic, Michael J. Aminoff, Rachel Saunders Pullman, Maureen A. Leehey, Cliff Shults, Deborah Judd, William C. Koller, Mark Forrest Gordon, Cheryl Halter, Ali H. Rajput, Pam Andrews, Stephen G. Reich, Theresa Derian, Alex Rajput, Stephanie Thomas, Galit Kleimer-Fisman, Susan Mendick, Robert A. Hauser, Danna Jennings, Paul Gordon, Stewart A. Factor, Peter A. LeWitt, Un Jung Kang, Karyn Boyar, Ronald F. Pfeiffer, Robert L. Rodnitzky, Jean P. Hubble, Jeannine Petit, Mayank Pathak, Julie H. Carter, Maureen Cook, William J. Weiner, Rajesh Pahwa, Christopher F. O'Brien, Karen Marder, Joan Young, Judith Dobson, Richard Camicioli, Lawrence Elmer, Jo Belden, Julie So, Theresa Shirley, Anthony E. Lang, Roger Kurlan, Kelli Williamson, Brenda Pfeiffer, Victoria Hunt, Sean K. Uniacke, Clifford W. Shults, Karen Blindauer, Lauren Seeberger, Brian Wulbrecht, Carolyn Peterson

Publikováno v: Movement Disorders. 19:649-655

Parkinson's disease (PD) is a common neurodegenerative disorder in humans with wide variability in the age of disease onset. Although the disease has been thought previously to occur sporadically in most patients, there is increasing evidence of a ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7de9a5b2e01f1af7dbb8612a83c762b
https://doi.org/10.1002/mds.20097

Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families

Autor: Cheryl Horn, Tatiana Foroud, Ryan J. Uitti, Maureen A. Leehey, Rachel Saunders Pullman, Lisa Scollins, Sabrina Phipps, Alice Rudolph, Tanya Simuni, Lisa M. Shulman, Julie So, Barbara Shannon, Paul J. Tuite, Joan Young, Judith Dobson, Paul Atchison, John M. Bertoni, Karen Blindauer, William C. Nichols, Janet Mannetter, Anette Nieves, William J. Weiner, Jayaraman Rao, Kelly E. Lyons, Nathan Pankratz, Paul Gordon, P. Michael Conneally, Joanna Hamman, Andrew Feigin, Susan Rolli, Brian Wulbrecht, Robyn Schacherer, Todd Ajax, Laura Good, Francis O. Walker, James Sutton, Karyn Boyar, Brad A. Racette, Juliette Harris, Melinda Meacham, Annette Kaczmarek, Mandar Jog, Lisa Giffin, Roger Kurlan, Kelli Williamson, Jeannine Petit, An Tran, Joan Werner, Anthony E. Lang, Maureen Cook, Robert L. Rodnitzky, Mayank Pathak, William C. Koller, Sharon Evans, Bala V. Manyam, Donna Schwieterman, Carolyn Peterson, Cheryl Halter, Clifford W. Shults, Marguerite Wieler, Joseph Jankovic, Vincent Calabrese, Mark Forrest Gordon, Jill R. Murrell, Neal Hermanowicz, Stewart A. Factor, Miodrag Velickovic, Theresa Derian, W.R. Wayne Martin, Galit Kleimer-Fisman, Richard B. Dewey, Shari Niswonger, Hunter Homes, J. Carpenter, Victoria Hunt, Lewis Sudarsky, Mark Stacy, Debra Berry, Claire Corwin, Sean K. Uniacke, G. David Podskalny, David Simon, Christine Hunter, Daniel D. Truong, Peggy Roberge, Kelly Dustin, Kapil D. Sethi, Brad Hutchinson, Un Jang Kang, Karen Marder, Margaret F. Turk

Publikováno v: Human Molecular Genetics. 12:2599-2608

Parkinson disease (PD) is the second most common neurodegenerative disorder. We studied 754 affected individuals, comprising 425 sibling pairs, to identify PD susceptibility genes. Screening of the parkin gene was performed in a subset of the sample

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::308e7ef8b5c07cd71290fa844448e633
https://doi.org/10.1093/hmg/ddg270

R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation

Autor: Karen Williams, Carolyn Peterson, S. Narayan, Margaret F. Turk, Julie H. Carter, C. Schell, Carlos Singer, Chad W. Christine, Paul J. Tuite, Robyn Schacherer, J. Whetteckey, S. Phipps, Diane K. Marek, William C. Nichols, John M. Bertoni, A. H. Rajput, Kenneth Marek, An Tran, P. Ryan, J. Hevezi, Joan Werner, Kelvin L. Chou, S. Chouinard, James Sutton, Margaret C. Lannon, T. Ajax, Joan Young, Deborah Judd, L. Zelaya, David Grimes, Magali Fernandez, Theresa A. Zesiewicz, Mark Stacy, Peggy Gray, Debra Berry, Michael J. Aminoff, C. Horn, C. Costan-Toth, J. Mannetter, Patricia Simpson, Susan Rolandelli, Tatiana Foroud, T. Tra, S. Wilson, Judith Dobson, Nestor Galvez-Jimenez, Donna Schwieterman, Shirley Uy, K. Price, J. Wojcieszek, Anette Nieves, Paul Atchison, Susan Bennett, L. Klassen, A. Podichetty, Vincent Calabrese, Becky Dunlop, D. Kamp, Holly Delgado, Sandra Roque, Maureen A. Leehey, Richard Camicioli, Julie So, Jayaraman Rao, Kelly E. Lyons, Kapil D. Sethi, A. Wang, Lynn Marlor, David Oakes, S. Culver, Juan Sanchez-Ramos, L. Woodward, J. Danielson, Jeannine Petit, Joann Belden, E. Licari, M. Meacham, Deborah Fontaine, Sharon Evans, C. Stone, S. Morehouse, Christopher F. O'Brien, G. Podskalny, J. Fraser, Anthony E. Lang, W.R. Wayne Martin, Carmen Serrano, H. Poiffaut, Stewart A. Factor, Joanne Wojcieszek, S. Belber, L. Davis, C. Allen, J. Hall, Judy Richman, Joseph Jankovic, Carson Reider, Stephen G. Reich, Stephanie Thomas, Kathy Davis, Richard B. Dewey, Karen Marder, T. Demarcaida, A. Kaczmarek, Lauren Seeberger, C. Halter, Mary Lou Klimek, Donald S. Higgins, Miodrag Velickovic, Joanna Hamann, Eric Siemers, E. Ohmann, C. Dingmann, Galit Kleiner-Fisman, Shari Niswonger, Theresa Derian, Maryan DeAngelis, Aileen Shinaman, Tilak Mendis, M. Rundle, Susan Mendick, L. Giffin, Karen Blindauer, Paul Gordon, Andrew Feigin, L. Shulman, Maureen Cook, Brian Wulbrecht, Rajesh Pahwa, T. Foroud, Un Jung Kang, Arthur Watts, Oksana Suchowersky, C. Joubert, J. Vo, Mandar Jog, M. Panisset, Roberta Winnick, Ronald F. Pfeiffer, Barbara Shannon, Jean P. Hubble, Clifford W. Shults, T. Gales, Tanya Simuni, M. Wolff, Hubert H. Fernandez, Pam Andrews, Karyn Boyar, Brad A. Racette, Vicki Hunt, Christine Hunter, Daniel D. Truong, L. Good, Robert L. Rodnitzky, P. Rodriguez, Sandra K. Kostyk, T. Shirley, Cheryl Halter, Peter A LeWitt, W. Weiner, Ryan J. Uitti, Lisa Scollins, Marc L. Gordon, J. Carpenter, Alice Rudolph, Lewis Sudarsky, Robert A. Hauser, Cliff Shults, Bala V. Manyam, Francis O. Walker, Juliette Harris, Marguerite Wieler, K. Dustin, Kelli Williamson, Brenda Pfeiffer, William C. Koller, Frederick J. Marshall, V. Hagen, A. Campbell, B. Hutchinson, L. Elmer, Anja Rudolph, K. Haas, Tori Ross, Rachel Saunders-Pullman, Nathan Pankratz, E. Aiken, Mariann DiMinno, Peggy Roberge, Arif Dalvi, B. Hayward, Mayank Pathak, David Simon, Michael W. Pauciulo, Holly A. Shill, M. Marotta-Kollarus, K. Ligon, Alok Sahay, Joseph H. Friedman, Neal Hermanowicz, E. Julian-Baros, Irenita Gardiner, N. Luong, Danna Jennings, R. Kurlan, P. M. Conneally

Publikováno v: Movement Disorders. 22:254-256

Mutations in LRRK2 were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen LRRK2 substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c48f0117672933936e1f3bb8ac731d4
https://doi.org/10.1002/mds.21233

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease

Autor: Carolyn Peterson, Peggy Gray, Anette Nieves, Julie H. Carter, Lauren Seeberger, William C. Nichols, John M. Bertoni, Anja Rudolph, Francis O. Walker, Juliette Harris, L. Liu, Un Jung Kang, P. M. Conneally, Kenneth Marek, Alex Rajput, Shirley Uy, Michael Panisset, Becky Dunlop, Margaret C. Lannon, Stephen G. Reich, Frederick J. Marshall, Kelly E. Lyons, Stephanie Thomas, Karen Bindauer, Ronald F. Pfeiffer, Maryan DeAngelis, David Oakes, William J. Weiner, Jean P. Hubble, Joseph H. Friedman, Deborah Fontaine, Victoria Hunt, Karyn Boyer, Richard Camicioli, Julie So, Theresa Shirley, Christopher F. O'Brien, Carmen Serrano Ramos, Sean K. Uniacke, Lawrence I. Golbe, Eric Siemers, Roger Kurlan, Kelli Williamson, Cheryl Halter, Brenda Pfeiffer, Karen Marder, Jean Hall, Clifford W. Shults, Peter A. LeWitt, Lisa Scollins, Judith Dobson, Robert L. Rodnitzky, Lawrence Elmer, Hubert H. Fernandez, Jeannine Petit, Tatiana Foroud, Susan Mendick, Deborah Judd, Joseph Jankovic, Paul Gordon, Anhoa Tran, Rajesh Pahwa, Aileen Shinaman, Sandra Roque, Paul J. Tuite, David Simon, Joanna Hamann, Danna Jennings, Christine Hunter, Daniel D. Truong, Holly Delgado, Theresa A. Zesiewicz, Pamela Andrews, Michael J. Aminoff, Mark Stacy, Debra Berry, Sharon Evans, W.R. Wayne Martin, Robert A. Hauser, Nathan Pankratz, Mariann DiMinno, William C. Koller, Bala V. Manyam, Marguerite Wieler, Carson Reider, Kathy Davis, Mayank Pathak, Patricia Simpson, Mark Forrest Gordon, David Grimes, Magali Fernandez, Joann Belden, Joanne Wojcieszek, Robyn Schacherer, Tilak Mendis, Rachel Saunders Pullman, Ali H. Rajput, Juan Sanchez-Ramos, Stewart A. Factor

Publikováno v: Scopus-Elsevier

Background: The vast majority of the parkin mutations previously identified have been found in individuals with juvenile or early onset PD. Previous screening of later onset PD cohorts has not identified substantial numbers of parkin mutations. Metho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d79980bba53902043f13df95007ac345
https://pubmed.ncbi.nlm.nih.gov/12629236

Sleepiness and Sleep Attacks in Parkinson’s Disease

Autor: Anette Nieves, Anthony E. Lang

Publikováno v: Mapping the Progress of Alzheimer’s and Parkinson’s Disease ISBN: 9781475709735

The publication from Frucht et al1 describing “sleep attacks” brought to the neurology community’s attention the potential risks of abnormal sleepiness in Parkinson’s disease. Following this publication drastic measures were taken in many cou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::237167757f92261608cb0158983232ff
https://doi.org/10.1007/978-0-306-47593-1_66