D
Dorota Rowczenio
Researcher at University College London
Publications - 125
Citations - 5558
Dorota Rowczenio is an academic researcher from University College London. The author has contributed to research in topics: Amyloidosis & Transthyretin. The author has an hindex of 33, co-authored 113 publications receiving 3782 citations. Previous affiliations of Dorota Rowczenio include Royal Free London NHS Foundation Trust & Royal Free Hospital.
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Journal ArticleDOI
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
David B. Beck,Marcela A. Ferrada,Keith A. Sikora,Amanda K. Ombrello,Jason C. Collins,Wuhong Pei,Nicholas Balanda,Daron L. Ross,Daniela Ospina Cardona,Zhijie Wu,Bhavisha A Patel,Kalpana Manthiram,Emma M. Groarke,Fernanda Gutierrez-Rodrigues,Patrycja Hoffmann,Sofia Rosenzweig,Shuichiro Nakabo,Laura W. Dillon,Christopher S. Hourigan,Wanxia L. Tsai,Sarthak Gupta,Carmelo Carmona-Rivera,Anthony J. Asmar,Lisha Xu,Hirotsugu Oda,Wendy Goodspeed,Karyl S. Barron,Michele Nehrebecky,Anne Jones,Ryan S. Laird,Natalie Deuitch,Dorota Rowczenio,Emily Rominger,Kristina V. Wells,Chyi-Chia Richard Lee,Weixin Wang,Megan Trick,James C. Mullikin,Gustaf Wigerblad,Stephen R. Brooks,Stefania Dell'Orso,Zuoming Deng,Jae Jin Chae,Alina Dulau-Florea,May Christine V. Malicdan,Danica Novacic,Robert A. Colbert,Mariana J. Kaplan,Massimo Gadina,Sinisa Savic,Helen J. Lachmann,Mones Abu-Asab,Benjamin D. Solomon,Kyle Retterer,William A. Gahl,Shawn M. Burgess,Ivona Aksentijevich,Neal S. Young,Katherine R. Calvo,Achim Werner,Daniel L. Kastner,Peter C. Grayson +61 more
TL;DR: Using a genotype-driven approach, this disorder is identified that connects seemingly unrelated adult-onset inflammatory syndromes and is named the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.
Journal ArticleDOI
A new staging system for cardiac transthyretin amyloidosis
Julian D. Gillmore,Thibaud Damy,Marianna Fontana,Matthew Hutchinson,Helen J. Lachmann,Ana Martinez-Naharro,Candida Cristina Quarta,Tamer Rezk,Carol J. Whelan,Esther Gonzalez-Lopez,Thirusha Lane,Janet A. Gilbertson,Dorota Rowczenio,Aviva Petrie,Philip N. Hawkins +14 more
TL;DR: This simple, universally applicable staging system stratifies patients with both ATTRwt and ATTRv amyloid cardiomyopathy into prognostic categories will be of value in the design of forthcoming clinical trials of novel amyloids-specific therapies.
Journal ArticleDOI
Native T1 mapping in transthyretin amyloidosis
Marianna Fontana,Sanjay M Banypersad,Thomas A. Treibel,Viviana Maestrini,Daniel Sado,Steven K White,Silvia Pica,Silvia Castelletti,Stefan K. Piechnik,Matthew D. Robson,Janet A. Gilbertson,Dorota Rowczenio,David F. Hutt,Helen J. Lachmann,Ashutosh D. Wechalekar,Carol J. Whelan,Julian D. Gillmore,Philip N. Hawkins,James C. Moon +18 more
TL;DR: Native myocardial T1 mapping detects cardiac ATTR amyloid with similar diagnostic performance and disease tracking to AL amyloids, but with lower maximal T1 elevation, and appears to be an early disease marker.
Journal ArticleDOI
Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome
Jennifer H. Pinney,Carol J. Whelan,Aviva Petrie,Jason Dungu,Jason Dungu,Sanjay M Banypersad,Sanjay M Banypersad,Prayman T. Sattianayagam,Ashutosh D. Wechalekar,Simon D. J. Gibbs,Christopher P. Venner,Nancy Wassef,Carolyn A. McCarthy,Janet A. Gilbertson,Dorota Rowczenio,Philip N. Hawkins,Julian D. Gillmore,Helen J. Lachmann +17 more
TL;DR: Factors at baseline associated with a worse outcome in ATTRwt are positive troponin T, a pacemaker, and NYHA class IV symptoms, and the age of the patient at diagnosis and NT pro‐BNP level can aid in distinguishing AT TRwt from AL amyloidosis.
Journal ArticleDOI
Classification criteria for autoinflammatory recurrent fevers
Marco Gattorno,Michael Hofer,Silvia Federici,Federica Vanoni,Francesca Bovis,Ivona Aksentijevich,Jordi Anton,Juan I. Aróstegui,Karyl S. Barron,Eldad Ben-Cherit,Paul A. Brogan,Luca Cantarini,Isabella Ceccherini,Fabrizio De Benedetti,Fatma Dedeoglu,Erkan Demirkaya,Joost Frenkel,Raphaela Goldbach-Mansky,Ahmet Gül,Véronique Hentgen,Hal M. Hoffman,Tilmann Kallinich,Isabelle Koné-Paut,Jasmin B Kuemmerle-Deschner,Helen J. Lachmann,Ronald M. Laxer,Avi Livneh,Laura Obici,Seza Ozen,Dorota Rowczenio,Ricardo Russo,Yael Shinar,Anna Simon,Nataša Toplak,Isabelle Touitou,Yosef Uziel,Marielle E. van Gijn,Dirk Foell,Claudia Garassino,DL Kastner,Alberto Martini,Maria Pia Sormani,Nicolino Ruperto +42 more
TL;DR: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity and shows a high accuracy in an independent data set of 1018 patients.