D
Deborah Raymond
Researcher at Icahn School of Medicine at Mount Sinai
Publications - 94
Citations - 5487
Deborah Raymond is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Dystonia & Penetrance. The author has an hindex of 35, co-authored 84 publications receiving 4832 citations. Previous affiliations of Deborah Raymond include University of Lübeck & Beth Israel Deaconess Medical Center.
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Journal ArticleDOI
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
Laurie J. Ozelius,Jeffrey W. Hewett,Curtis E. Page,Susan B. Bressman,Patricia L. Kramer,Christo Shalish,Deborah de Leon,Mitchell F. Brin,Deborah Raymond,David P. Corey,Stanley Fahn,Neil Risch,Alan Buckler,James F. Gusella,Xandra O. Breakefield +14 more
TL;DR: The DYT1 gene on human chromosome 9q34 is identified as being responsible for early-onset torsion dystonia, a movement disorder, characterized by twisting muscle contractures, that begins in childhood.
Journal ArticleDOI
The DYT1 phenotype and guidelines for diagnostic testing
Susan B. Bressman,Chiara Sabatti,Deborah Raymond,Deborah de Leon,Christine Klein,Patricia L. Kramer,Mitchell F. Brin,Stanley Fahn,Xandra O. Breakefield,Laurie J. Ozelius,Neil Risch +10 more
TL;DR: Diagnostic DYT1 testing in conjunction with genetic counseling is recommended for patients with PTD with onset before age 26 years, as this single criterion detected 100% of clinically ascertained carriers, with specificities of 43% to 63%.
Journal ArticleDOI
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Tania Fuchs,Sophie Gavarini,Rachel Saunders-Pullman,Rachel Saunders-Pullman,Deborah Raymond,Michelle E. Ehrlich,Susan B. Bressman,Susan B. Bressman,Laurie J. Ozelius +8 more
TL;DR: It is demonstrated that the missense mutation impairs DNA binding, suggesting that transcriptional dysregulation may contribute to the phenotype of DYT6 dystonia.
Journal ArticleDOI
Mutations in GNAL cause primary torsion dystonia.
Tania Fuchs,Rachel Saunders-Pullman,Rachel Saunders-Pullman,Ikuo Masuho,Marta San Luciano,Deborah Raymond,Stewart A. Factor,Anthony E. Lang,Tsao-Wei Liang,Richard Trosch,Sierra R. White,E Ainehsazan,Denis Hervé,Denis Hervé,Nutan Sharma,Michelle E. Ehrlich,Kirill A. Martemyanov,Susan B. Bressman,Susan B. Bressman,Laurie J. Ozelius +19 more
TL;DR: Using exome sequencing in two families with PTD, a new causative gene, GNAL, is identified with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutation encode p.Val137Met in the other.
Journal ArticleDOI
The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene
Allison Brashear,William B. Dobyns,Patricia de Carvalho Aguiar,Michel Borg,C. J. M. Frijns,Seema Gollamudi,Andrew Green,João Guimarães,Bret C. Haake,Christine Klein,Gurutz Linazasoro,Alexander Münchau,Deborah Raymond,David E. Riley,Rachel Saunders-Pullman,Marina A. J. Tijssen,David Webb,Jacek Zaremba,Susan B. Bressman,Laurie J. Ozelius +19 more
TL;DR: In comparing ATP1A3 mutation positive and negative patients, it is found that tremor at onset of symptoms, a reversed rostrocaudal gradient, and significant limb pain exclude a diagnosis of RDP.