S
Susan B. Bressman
Researcher at Beth Israel Medical Center
Publications - 241
Citations - 22512
Susan B. Bressman is an academic researcher from Beth Israel Medical Center. The author has contributed to research in topics: Dystonia & Penetrance. The author has an hindex of 75, co-authored 226 publications receiving 20389 citations. Previous affiliations of Susan B. Bressman include Philips & Icahn School of Medicine at Mount Sinai.
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Journal ArticleDOI
Phenomenology and classification of dystonia: a consensus update.
Alberto Albanese,Kailash P. Bhatia,Susan B. Bressman,Mahlon R. DeLong,Stanley Fahn,Victor S.C. Fung,Mark Hallett,Joseph Jankovic,Hyder A. Jinnah,Christine Klein,Anthony E. Lang,Jonathan W. Mink,Jan K. Teller +12 more
TL;DR: An international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia provides a new general definition and proposes a new classification and encourages clinicians and researchers to use these innovative definitions and test them in the clinical setting on a variety of patients with Dystonia.
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
Daniel G. Healy,Mario Falchi,Sean S. O'Sullivan,Vincenzo Bonifati,Alexandra Durr,Susan B. Bressman,Alexis Brice,Jan O. Aasly,Cyrus P. Zabetian,Stefano Goldwurm,Joaquim J. Ferreira,Eduardo Tolosa,Denise M. Kay,Christine Klein,David R. Williams,Connie Marras,Anthony E. Lang,Zbigniew K. Wszolek,José Berciano,Anthony H.V. Schapira,Timothy Lynch,Kailash P. Bhatia,Thomas Gasser,Andrew J. Lees,Andrew J. Lees,Nicholas W. Wood +25 more
TL;DR: Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD, but this knowledge should be applied with caution in the diagnosis and counselling of patients.
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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.
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Validity and reliability of a rating scale for the primary torsion dystonias
Robert E. Burke,Stanley Fahn,C. D. Marsden,Susan B. Bressman,Carol Moskowitz,Joseph H. Friedman +5 more
TL;DR: The Movement Scale was a valid and reliable indicator of the severity of primary torsion dystonia and was found to be compatible with scores on the Disability Scale.
Journal ArticleDOI
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.
Laurie J. Ozelius,Geetha Senthil,Rachel Saunders-Pullman,Erin Ohmann,Amanda Deligtisch,Michele Tagliati,Ann L. Hunt,Christine Klein,Brian Henick,Susan M. Hailpern,Richard B. Lipton,Jeannie Soto-Valencia,Neil Risch,Susan B. Bressman +13 more
TL;DR: To the Editor: Most cases of Parkinson's disease are considered sporadic and idiopathic, although there is evidence of familial aggregation, and several monogenic forms have been identified.