Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Deborah de Leon"'
Autor:
Mitchell F. Brin, Jeremy M. Silverman, Deborah Raymond, L. Liu, Susan B. Bressman, Laurie J. Ozelius, Christopher J. Smith, Ben Schmand, S. Abbasi, Christine Klein, Birgitt Müller, Patricia L. Kramer, Karla Schilling, Rachel Saunders-Pullman, Marina A. J. Tijssen, Chris Morrison, Dana Doheny, Jennifer Garrels, Ruth H. Walker, P. de Carvalho Aguiar, Deborah de Leon
Publikováno v:
Neurology. 59:1187-1196
Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the e-sarcoglycan gene ( SGCE ) (six families) and with a missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b935b2c028804104febabd5ed6adbcb
https://doi.org/10.1212/wnl.59.8.1187
https://doi.org/10.1212/wnl.59.8.1187
Autor:
Miodrag Velickovic, Mitchell F. Brin, Laurie J. Ozelius, Joanne Leung, Susan B. Bressman, Ruth H. Walker, L. Liu, Deborah de Leon, Patricia de Carvalho Aguiar, Chris Morrison, Fabio Danisi, Dana Doheny, Norman Kock, Birgitt Müller, Patricia L. Kramer, Jeremy M. Silverman, Christopher M. Smith, Eberhard Schwinger, Xandra O. Breakefield, Christine Klein
Publikováno v:
Annals of Neurology. 52:675-679
Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e8750f3a0e311d8e0ba33d59c2b8cb1
https://doi.org/10.1002/ana.10358
https://doi.org/10.1002/ana.10358
Autor:
Lars Forsgren, Gösta Holmgren, Patricia L. Kramer, P. Vieregge, Barbara J. Ebersole, Xandra O. Breakefield, Anthony E. Lang, Gunnar Sanner, M Kyllerman, Stephen P. Fink, Jan Wahlström, Stuart C. Sealfon, Jennifer Friedman, Christine Klein, Nadia Gurvich, Deborah Raymond, Joanne Leung, Susan B. Bressman, Mitchell F. Brin, Miguel Sena-Esteves, Deborah de Leon, Laurie J. Ozelius, David Grimes, Rachel Saunders-Pullman, Cassandra Prioleau
Publikováno v:
Annals of Neurology. 47:369-373
A novel Val154-->Ile mutation in the D2 dopamine receptor (DRD2) on chromosome 11q23 has recently been shown to be associated with myoclonus dystonia (M-D) in one large family. Sequence analysis of the DRD2 gene in 5 M-D patients from different famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::841a9f1b11a99972b56761adaa7875af
https://doi.org/10.1002/1531-8249(200003)47:3<369::aid-ana14>3.0.co
https://doi.org/10.1002/1531-8249(200003)47:3<369::aid-ana14>3.0.co
Autor:
Mitchell F. Brin, Joanne Leung, Susan B. Bressman, Deborah de Leon, Curtis E. Page, David P. Corey, Christo Shalish, Jeffrey W. Hewett, Laurie J. Ozelius, Christine Klein, Mari Mineta, Xandra O. Breakefield, Stanley Fahn
Publikováno v:
Genomics. 62:377-384
Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a glutamic acid in the carboxy terminal of the encoded protein, torsin A. TOR1A and its homo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daf41ba71be92d4f16f759142d068360
https://doi.org/10.1006/geno.1999.6039
https://doi.org/10.1006/geno.1999.6039
Autor:
Christine Klein, Susan B. Bressman, Laurie J. Ozelius, Martin R. Farlow, Mari Mineta, Allison Brashear, William B. Dobyns, Karla Schilling, Deborah de Leon, Patricia L. Kramer, Xandra O. Breakefield
Publikováno v:
Annals of Neurology. 46:176-182
Rapid-onset dystonia-parkinsonism (RPD) is an autosomal dominant movement disorder characterized by sudden onset of persistent dystonia and parkinsonism, generally during adolescence or early adulthood. Symptoms evolve over hours or days, and general
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::117155624f4aa5d346406040c907a54e
https://doi.org/10.1002/1531-8249(199908)46:2<176::aid-ana6>3.0.co
https://doi.org/10.1002/1531-8249(199908)46:2<176::aid-ana6>3.0.co
Autor:
Christine Klein, Svetlana A. Limborska, Markova Ed, Xandra O. Breakefield, Laurie J. Ozelius, Neil Risch, Mitchell F. Brin, Andrzej Friedman, Susan B. Bressman, Irina A. Ivanova-Smolenskaya, Deborah de Leon
Publikováno v:
Human Molecular Genetics. 7:1133-1136
The DYT1 gene recently has been cloned and shown to contain a three nucleotide (GAG) deletion responsible for most cases of autosomal dominant early-onset torsion dystonia. This deletion results in the loss of one of a pair of glutamic acids in a con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5de565757e31a54d924bbc9c2c053ee
https://doi.org/10.1093/hmg/7.7.1133
https://doi.org/10.1093/hmg/7.7.1133
Autor:
Patricia L. Kramer, D. Raymond, R. P. Kapoor, T. G. Nygaard, Gary A. Heiman, Blair Ford, Alison C. Jones, Mitchell F. Brin, H. Shen, Sylvain Chouinard, Paul Greene, J. Yount, Deborah de Leon, L. Almasy, Stanley Fahn, Neil Risch, R. Saunders-Pullman, Susan B. Bressman
Publikováno v:
Annals of Neurology. 42:670-673
The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::209ab3633b4911e07f3ada239f9c3154
https://doi.org/10.1002/ana.410420421
https://doi.org/10.1002/ana.410420421
Publikováno v:
Movement Disorders. 12:715-721
Although childhood, limb-onset idiopathic torsion dystonia (ITD) is at increased prevalence among Jews, and Ashkenazi Jews with this form of ITD show linkage disequilibrium for a unique haplotype, little else is known about phenotypic or genetic vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f83b0332cdfea0a7f220ab5bffa6bfd1
https://doi.org/10.1002/mds.870120515
https://doi.org/10.1002/mds.870120515
Autor:
Curtis E. Page, Xandra O. Breakefield, Mitchell F. Brin, Laurie J. Ozelius, James F. Gusella, Jeffrey W. Hewett, Deborah de Leon, Christo Shalish, David P. Corey, Patricia L. Kramer, Stanley Fahn, Alan Buckler, Neil Risch, Deborah Raymond, Susan B. Bressman
Publikováno v:
Nature Genetics. 17:40-48
Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a143aa6457c6d6680f6fa1dd6ba3dfcb
https://doi.org/10.1038/ng0997-40
https://doi.org/10.1038/ng0997-40