Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Deborah deLeon"'
Autor:
Christine Klein, Karla Schilling, Rachel J. Saunders‐Pullman, Jennifer Garrels, Xandra O. Breakefield, Mitchell F. Brin, Deborah deLeon, Dana Doheny, Stanley Fahn, J. Stephen Fink, Lars Forsgren, Jennifer Friedman, Steven Frucht, Juliette Harris, Gosta Holmgren, Bernhard Kis, Roger Kurlan, Martin Kyllerman, Anthony E. Lang, Joanne Leung, Deborah Raymond, Janet D. Robishaw, Gunnar Sanner, Eberhard Schwinger, Rowena E. Tabamo, Michele Tagliati, Peter Vieregge, Jan Wahlstrom, Kristin J. Wendt, Patricia L. Kramer, Susan B. Bressman, Laurie J. Ozelius
Publikováno v:
The American Journal of Human Genetics. 67:1314-1319
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aef3ca9163308ed5d1675d5ed7463e27
https://doi.org/10.1086/321193
https://doi.org/10.1086/321193
Autor:
S. Chouinard, T. Nygaard, K. Mohrmann, Blair Ford, S. Tabbal, Laurie J. Ozelius, Mitchell F. Brin, Keith Hyland, Vicki Shanker, Rachel Saunders-Pullman, L. A. Arnold, Nenad Blau, C. Klein, Deborah Raymond, Susan B. Bressman, Deborah DeLeon, Johannes Zschocke
Publikováno v:
Molecular genetics and metabolism. 83(3)
Phenylalanine loading has been proposed as a diagnostic test for autosomal dominant DRD (dopa-responsive dystonia), and recently, a phenylalanine/tyrosine (phe/tyr) ratio of 7.5 after 4 h was reported as diagnostic of DRD. To test the utility of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0732ec288815a112095e07f08bd77535
https://pubmed.ncbi.nlm.nih.gov/15542391
https://pubmed.ncbi.nlm.nih.gov/15542391
Autor:
Mitchell F. Brin, Laurie J. Ozelius, Jennifer Friedman, Xandra O. Breakefield, Marvin Eisengart, Christine Klein, Peter P. Pramstaller, John B. Penney, Deborah DeLeon, David P. Corey, Susan B. Bressman, Thomas Gasser, Joseph Jankovic, Joanne Chung On Leung, Peter Vieregge, Patricia L. Kramer, Christoph Kamm, Helfried Jacobs, Dana Doheny
Publikováno v:
Neurogenetics. 3(3)
Dystonia is a movement disorder involving sustained muscle contractions and abnormal posturing with a strong hereditary predisposition and without a distinct neuropathology. In this study the TOR1A (DYT1) gene was screened for mutations in cases of e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058f05a51eb1d56dbaf1ced9cd872008
https://pubmed.ncbi.nlm.nih.gov/11523564
https://pubmed.ncbi.nlm.nih.gov/11523564
Autor:
Bernhard Kis, Michele Tagliati, Christine Klein, Lars Forsgren, Peter Vieregge, Steven J. Frucht, Stanley Fahn, Xandra O. Breakefield, Jan Wahlström, Mitchell F. Brin, Laurie J. Ozelius, Juliette Harris, Karla Schilling, Jennifer Garrels, M Kyllerman, Janet D. Robishaw, Deborah DeLeon, Eberhard Schwinger, J. Stephen Fink, Patricia L. Kramer, Dana Doheny, Gösta Holmgren, Deborah Raymond, Joanne Leung, Susan B. Bressman, Rowena E. Tabamo, Kristin J. Wendt, Anthony E. Lang, Gunnar Sanner, Roger Kurlan, Jennifer Friedman, Rachel Saunders-Pullman
Publikováno v:
Scopus-Elsevier
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on chromosome 11q has been implicated in one family with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a945f193be1be125b303438d4f6df3a
https://europepmc.org/articles/PMC1288573/
https://europepmc.org/articles/PMC1288573/
Autor:
Phoebe G. Spetsieris, Angelo Antonini, Susan B. Bressman, Toshitaka Nakamura, Vijay Dhawan, Stanley Fahn, Deborah DeLeon, James R. Moeller, Ken Kazumata, David Eidelberg
Publikováno v:
Annals of neurology. 44(3)
Early-onset idiopathic torsion dystonia (ITD) is an autosomal dominant hyperkinetic movement disorder with incomplete penetrance, associated with a 3 base-pair deletion in the DYT1 gene on chromosome 9q34. To determine the metabolic substrates of bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a9a9e27451f030b4c3717577d26181b
https://pubmed.ncbi.nlm.nih.gov/9749593
https://pubmed.ncbi.nlm.nih.gov/9749593
Autor:
Deborah DeLeon
Publikováno v:
Journal of Genetic Counseling. 5:43-44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe2222318953fe6db14b72ff3671abc8
https://doi.org/10.1007/bf01408665
https://doi.org/10.1007/bf01408665
Autor:
Deborah DeLeon
Publikováno v:
Journal of Home Health Care Practice. 7:80-80
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6901e1f333b64d1a6c1b4647b7a5a20
https://doi.org/10.1177/108482239500700312
https://doi.org/10.1177/108482239500700312