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Child and Adolescent Psychiatric Clinics of North America, ISSN 1056-4993, 1999, Volume 8, Issue 4, pp. 747 - 765
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/1999, Volume 46, Issue 5, pp. 794 - 798
Essential myoclonus‐dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological... 
ALCOHOL | LINKAGE ANALYSIS | MUTATIONS | EPILEPSY | DOMINANT INHERITANCE | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | Cell Line | Myoclonus - genetics | Humans | Middle Aged | Genotype | Male | Chromosome Mapping | Genetic Markers | DNA - blood | Dystonia - genetics | Chromosomes, Human, Pair 17 | Pedigree | Adolescent | Age of Onset | Adult | Female | Aged | Chromosomes, Human, Pair 11 | Genetic Linkage
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2000, Volume 67, Issue 5, pp. 1314 - 1319
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol.... 
DOMINANT INHERITANCE | GENETICS & HEREDITY | Genetic research | Research | Analysis | Human genetics
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2000, Volume 67, Issue 5, pp. 1314 - 1319
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol.... 
Myoclonus - genetics | Humans | Exons - genetics | Male | Chromosome Mapping | Chromosomes, Human, Pair 11 - genetics | Lod Score | Receptors, Dopamine D2 - genetics | Dystonia - genetics | Pedigree | Genetic Markers - genetics | Recombination, Genetic - genetics | Female | Software | Genetic Linkage - genetics | Chromosomes, Human, Pair 7 - genetics | Report
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2003, Volume 72, Issue 4, pp. 1053 - 1057
Parkinson disease (PD) is the second most common neurodegenerative disorder, surpassed in frequency only by Alzheimer disease. Elsewhere we have reported... 
GENE | CLINICAL-DIAGNOSIS | GENETICS & HEREDITY | LOD SCORES | MUTATIONS | PAIR ANALYSIS | LOCUS | ONSET | GENOME | PROGRAM | ACCURACY | Chromosomes, Human, Pair 2 | Ubiquitin-Protein Ligases | Humans | Ligases - genetics | Family | Female | Male | Chromosome Mapping | Genetic Markers | Parkinson Disease - genetics | Lod Score | Genetic aspects | Parkinson's disease | Research | Report
Journal Article
by Foroud, Tatiana and Uniacke, S.K and Liu, L and Pankratz, N and Rudolph, A and Halter, C and Shults, C and Marder, K and Conneally, P.M and Nichols, W.C and Golbe, Lawrence and Koller, William and Lyons, Kelly and Marshall, Frederick and Oakes, David and Shinaman, Aileen and Siemers, Eric and Wojcieszek, Joanne and Belden, Joann and Carter, Julie and Camicioli, Richard and Andrews, Pamela and Fernandez, Magali and Hubble, Jean and Reider, Carson and Rajput, Ali and Rajput, Alex and Shirley, Theresa and Panisset, Michael and Hall, Jean and Mendis, Tilak and Grimes, David A and Gray, Peggy and Serrano Ramos, Carmen and Roque, Sandra and Reich, Stephen and Dunlop, Becky and Hauser, Robert and Sanchez-Ramos, Juan and Zesiewicz, Theresa and Delgado, Holly and Friedman, Joseph and Fernandez, Hubert and Lannon, Margaret and Seeberger, Lauren and O'Brien, Christopher and Judd, Deborah and Elmer, Lawrence and Davis, Kathy and Fontaine, Deborah and Pfeiffer, Ronald and Pfeiffer, Brenda and Aminoff, Michael and DiMinno, Mariann and Truong, Daniel and Pathak, Mayank and Tran, Anhoa and Rodnitzky, Robert and Dobson, Judith and Pahwa, Rajesh and Thomas, Stephanie and Jennings, Danna and Marek, Kenneth and Mendick, Susan and Harris, Juliette and Weiner, William and Kurlan, Roger and Berry, Debra and Lewitt, Peter and DeAngelis, Maryan and Tuite, Paul and Schacherer, Robyn and Martin, Wayne and Wieler, Marguerite and Manyam, Bala and Simpson, Patricia and Bertoni, John and Peterson, Carolyn and Gordon, Mark F and Hamann, Joanna and Jankovic, Joseph and Hunter, Christine and Factor, Stewart and Evans, Sharon and Nieves, Anette and So, Julie and Stacy, Mark and Williamson, Kelli and Walker, Francis and Hunt, Victoria and Kang, Un Jung and Uy, Shirley and Bindauer, Karen and Petit, Jeannine and Simon, David and Scollins, Lisa and Pullman, Rachel Saunders and Boyer, Karyn and Gordon, Paul and Parkinson Study Grp and Parkinson Study Group
Neurology, ISSN 0028-3878, 03/2003, Volume 60, Issue 5, pp. 796 - 801
Background: The vast majority of the parkin mutations previously identified have been found in individuals with juvenile or early onset PD. Previous screening... 
RECESSIVE JUVENILE PARKINSONISM | HOMOZYGOUS DELETIONS | CLINICAL-DIAGNOSIS | FAMILIES | CLINICAL NEUROLOGY | ACCURACY | Genetic Testing | Humans | Middle Aged | Age of Onset | Parkinson Disease - epidemiology | Heterozygote | Aged | Mutation | North America - epidemiology | Parkinson Disease - genetics | Ubiquitin-Protein Ligases - genetics
Journal Article
by Pankratz, Nathan and Nichols, William C and Uniacke, Sean K and Halter, Cheryl and Murrell, Jill and Rudolph, Alice and Shults, Clifford W and Conneally, P. Michael and Foroud, Tatiana and Truong, Daniel and Pathak, Mayank and Tran, An and Rodnitzky, Robert and Dobson, Judith and Koller, William and Weiner, William and Lyons, Kelly and Kurlan, Roger and Berry, Debra and Bertoni, John and Peterson, Carolyn and Martin, Wayne and Wieler, Marguerite and Tuite, Paul and Schacherer, Robyn and Marder, Karen and Harris, Juliette and Jankovic, Joseph and Hunter, Christine and Lang, Anthony and Kleimer-Fisman, Galit and Nieves, Anette and So, Julie and Factor, Stewart and Evans, Sharon and Manyam, Bala and Wulbrecht, Brian and Walker, Francis and Hunt, Victoria and Gordon, Mark F and Hamman, Joanna and Kang, Un Jang and Young, Joan and Blindauer, Karen and Petit, Jeannine and Rao, Jayaraman and Cook, Maureen and Stacy, Mark and Williamson, Kelli and Pullman, Rachel Saunders and Boyar, Karyn and Leehey, Maureen and Derian, Theresa and Gordon, Paul and Werner, Joan and Racette, Brad and Good, Laura and Simon, David and Scollins, Lisa and Schwieterman, Donna and Dewey, Richard and Meacham, Melinda and Sutton, James and Hutchinson, Brad and Jog, Mandar and Horn, Cheryl and Sethi, Kapil and Carpenter, Joan and Atchison, Paul and Rolli, Susan and Sudarsky, Lewis and Corwin, Claire and Velickovic, Miodrag and Phipps, Sabrina and Simuni, Tanya and Kaczmarek, Annette and Hermanowicz, Neal and Niswonger, Shari and Feigin, Andrew and Shannon, Barbara and Calabrese, Vincent and Roberge, Peggy and Homes, Hunter and Shulman, Lisa and Dustin, Kelly and Ajax, Todd and Mannetter, Janet and Podskalny, G. David and Giffin, Lisa and Uitti, Ryan and Turk, Margaret Foster and The Parkinson Study Grp and Parkinson Study Group
Human Molecular Genetics, ISSN 0964-6906, 10/2003, Volume 12, Issue 20, pp. 2599 - 2608
Journal Article
2005, ISBN 9780120883820
Dystonia is characterized by sustained muscle contractions causing twisting and repetitive movements and postures, which are often precipitated by action.... 
Book Chapter
2005, ISBN 9780120883820
Dystonia is characterized by sustained muscle contractions causing twisting and repetitive movements and postures, which are often precipitated by action.... 
Book Chapter