Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Elizabeth, O'Hearn"'
Autor:
Elizabeth O'Hearn, Olga Pletnikova, Daniel W. Chung, Ana I. Seixas, Hyon S. Hwang, Christopher A. Ross, Rachael L. Cohen, Russell L. Margolis, Juan C. Troncoso, Dobrila D. Rudnicki, Susan E. Holmes, John Q. Trojanowski
Publikováno v:
Movement Disorders. 30:1813-1824
Objective SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and som
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::42f7ba9ed7f7f8e45620f9b8aebf4777
https://doi.org/10.1002/mds.26348
https://doi.org/10.1002/mds.26348
Autor:
Mohinder Pal Sachdeva, S. Jain, Elizabeth O'Hearn, Mitali Mukerji, Achal Kumar Srivastava, Uma Mittal, A.K. Kalla, Russell L. Margolis, K. Virdi, Samira Bahl, Susan E. Holmes
Publikováno v:
Annals of Human Genetics. 69:528-534
Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' region of the PPP2R2B gene on chromosome 5q31-5q32. We found that it accounts for approximately 16% (2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624994553065047e40477e0076330dd6
https://doi.org/10.1046/j.1529-8817.2005.00173.x
https://doi.org/10.1046/j.1529-8817.2005.00173.x
Publikováno v:
Movement Disorders. 19:641-648
The most common form of autosomal dominant hereditary spastic paraparesis (HSP), SPG4, is caused by mu- tations in the spastin gene on chromosome 2p. This disease is characterized by intra- and interfamilial phenotypic variation. To determine the pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89538c9d13d7b5feab06a69ab08c2d7f
https://doi.org/10.1002/mds.20077
https://doi.org/10.1002/mds.20077
Autor:
Iracema Leroi, Christopher A. Ross, Elizabeth O'Hearn, Christine M. Liszewski, Russell L. Margolis, Lisa Gourley
Publikováno v:
The Journal of Neuropsychiatry and Clinical Neurosciences. 16:109-112
The authors performed a chart review to determine the frequency with which neurologists detect cognitive and psychiatric symptoms in patients with cerebellar degeneration. Psychopathology, including depression, personality change, cognitive impairmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50ca45dc64357bf8fe5a3103c0164b6d
https://doi.org/10.1176/jnp.16.1.109
https://doi.org/10.1176/jnp.16.1.109
Autor:
Stanley Fahn, Astrid Rasmussen, Juliette Harris, Adam Rosenblatt, Jayalakshmi S. Mysore, Thomas D. Bird, Takayoshi Shimohata, Shoji Tsuji, Yoshiki Adachi, Ruth H. Walker, E. Almqvist, Christopher A. Ross, Nicholas T. Potter, Amanda Krause, Penny Greenstein, Tetsuo Ashizawa, Kazuhiro Nakaso, William K. Seltzer, Michael R. Hayden, Marcy E. MacDonald, Lisa Gourley, Susan E. Holmes, Kenji Nakashima, Elizabeth O'Hearn, Russell L. Margolis
Publikováno v:
Annals of Neurology. 56:670-674
Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda48ec859d1f6eb1ddb82717b907440
https://doi.org/10.1002/ana.20248
https://doi.org/10.1002/ana.20248
Publikováno v:
Cytogenetic and Genome Research. 100:189-197
Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fcc18602f11185c95661958b1bac117
https://doi.org/10.1159/000072854
https://doi.org/10.1159/000072854
Autor:
Constantine G. Lyketsos, Elizabeth O'Hearn, Iracema Leroi, Adam Rosenblatt, Christopher A. Ross, Russell L. Margolis, Laura Marsh, Jason Brandt
Publikováno v:
American Journal of Psychiatry. 159:1306-1314
Objective: This study estimated the psychiatric morbidity of patients with degenerative cerebellar diseases. Method: The study included a series of 31 patients with degenerative cerebellar diseases, compared with 21 patients with Huntington’s disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2887b0514d12670267ab587619476e9a
https://doi.org/10.1176/appi.ajp.159.8.1306
https://doi.org/10.1176/appi.ajp.159.8.1306
Publikováno v:
International Review of Psychiatry. 13:323-329
The role of the cerebellum in both normal and abnormal processes has undergone substantial reassessment over the past several years. Although the cerebellum's role has traditionally been considered the coordination of voluntary movements, increasing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::494641e302e038eb83564492770554d3
https://doi.org/10.1080/09540260127523
https://doi.org/10.1080/09540260127523
Publikováno v:
Journal of Interpersonal Violence. 12:375-391
Relationships among attachment styles and the infliction and receipt of emotional abuse among college students in romantic relationships were examined. Both self-report and interview measures were collected. The self-reports were administered to a sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d26d01974267f0ee906a045a0ed450e
https://doi.org/10.1177/088626097012003004
https://doi.org/10.1177/088626097012003004
Autor:
Robin Elizabeth O'Hearn, Kelley D. Chappell, Thomas P. Cafferty, Keith E. Davis, Frederic J. Medway
Publikováno v:
Journal of Social and Clinical Psychology. 14:97-118
Employing predictors derived from the stress resistance and adult attachment literature, two studies are reported on the effects of war separation due to Operation Desert Storm on the families of South Carolina Reserve and National Guard member famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb8acdc5f92b6ac547dff1192381aa75
https://doi.org/10.1521/jscp.1995.14.2.97
https://doi.org/10.1521/jscp.1995.14.2.97