S
Shira G. Ziegler
Researcher at Johns Hopkins University School of Medicine
Publications - 33
Citations - 2946
Shira G. Ziegler is an academic researcher from Johns Hopkins University School of Medicine. The author has contributed to research in topics: Calcification & Glucocerebrosidase. The author has an hindex of 18, co-authored 32 publications receiving 2478 citations. Previous affiliations of Shira G. Ziegler include Oberlin College & National Institutes of Health.
Papers
More filters
Journal ArticleDOI
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
Ellen Sidransky,Mike A. Nalls,Jan O. Aasly,Judith Aharon-Peretz,Grazia Annesi,Egberto Reis Barbosa,Anat Bar-Shira,Daniela Berg,Jose Bras,Jose Bras,Alexis Brice,Alexis Brice,Chiung-Mei Chen,Lorraine N. Clark,Christel Condroyer,Elvira Valeria De Marco,Alexandra Durr,Alexandra Durr,Michael J. Eblan,Stanley Fahn,Matthew J. Farrer,Hon-Chung Fung,Ziv Gan-Or,Thomas Gasser,Ruth Gershoni-Baruch,Ruth Gershoni-Baruch,Nir Giladi,Nir Giladi,Alida Griffith,Tanya Gurevich,Tanya Gurevich,Cristina Januário,Peter Kropp,Anthony E. Lang,Guey Jen Lee-Chen,Suzanne Lesage,Karen Marder,Ignacio F. Mata,Anat Mirelman,Jun Mitsui,Ikuko Mizuta,Giuseppe Nicoletti,Giuseppe Nicoletti,Catarina R. Oliveira,Ruth Ottman,Avi Orr-Urtreger,Lygia da Veiga Pereira,Aldo Quattrone,Aldo Quattrone,Ekaterina Rogaeva,Arndt Rolfs,Hanna Rosenbaum,Roberto Rozenberg,Ali Samii,Ali Samii,Ali Samii,Ted Samaddar,Claudia Schulte,Manu Sharma,Manu Sharma,Andrew B. Singleton,Andrew B. Singleton,Mariana Spitz,Mariana Spitz,Eng-King Tan,Eng-King Tan,Nahid Tayebi,Tatsushi Toda,André R. Troiano,Shoji Tsuji,Matthias Wittstock,Tyra G. Wolfsberg,Yih-Ru Wu,Cyrus P. Zabetian,Yi Zhao,Shira G. Ziegler +75 more
TL;DR: Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.
Journal ArticleDOI
NT5E mutations and arterial calcifications.
Cynthia St. Hilaire,Shira G. Ziegler,Thomas C. Markello,Alfredo Brusco,Catherine Groden,Fred Gill,Hannah Carlson-Donohoe,Robert J. Lederman,Marcus Y. Chen,Dan Yang,Michael P. Siegenthaler,Carlo Arduino,Cecilia Mancini,Bernard Freudenthal,Horia Stanescu,Anselm A. Zdebik,R. Krishna Chaganti,Robert L. Nussbaum,Robert Kleta,William A. Gahl,Manfred Boehm +20 more
TL;DR: Clinical, radiographic, and genetic studies in three families with symptomatic arterial calcifications identified nine persons with calcifications of the lower-extremity arteries and hand and foot joint capsules, all five siblings in one family, three siblings in another, and one patient in a third family.
Journal ArticleDOI
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Shira G. Ziegler,Michael J. Eblan,Usha Gutti,Kathleen S. Hruska,Barbara K. Stubblefield,Ozlem Goker-Alpan,Mary E. LaMarca,Ellen Sidransky +7 more
TL;DR: It is demonstrated that GBA mutations are also encountered in Chinese subjects with sporadic PD at a higher frequency than many other known PD genes.
Journal ArticleDOI
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.
Thomas C. Markello,Laura K. Pak,Cynthia St. Hilaire,Heidi Dorward,Shira G. Ziegler,Marcus Y. Chen,Krishna Chaganti,Robert L. Nussbaum,Manfred Boehm,William A. Gahl +9 more
TL;DR: The newly described role ofAdenosine in inhibiting vascular calcification, along with the similarity of ACDC and PXE with respect to vascular pathology, suggests that adenosine may be the ligand for ABCC6, a C type ABC transporter whose ligand is unknown.
Journal ArticleDOI
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Meral Gunay-Aygun,Maya Tuchman,Esperanza Font-Montgomery,Linda Lukose,Hailey Edwards,Angelica Garcia,Surasawadee Ausavarat,Shira G. Ziegler,Katie Piwnica-Worms,Joy Bryant,Isa Bernardini,Roxanne Fischer,Marjan Huizing,Lisa M. Guay-Woodford,William A. Gahl +14 more
TL;DR: Se sequencing results on 78 ARPKD/CHF patients from 68 families required survival beyond 6 months and included many adults with a CHF-predominant phenotype, achieving a mutation detection rate of 79%, and identifying 77 PKHD1 variants including 19 truncating, 55 missense, 2 splice, and 1 small in-frame deletion.