M
Michael J. Eblan
Researcher at National Institutes of Health
Publications - 8
Citations - 2142
Michael J. Eblan is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Glucocerebrosidase & Parkinsonism. The author has an hindex of 8, co-authored 8 publications receiving 1852 citations.
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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
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
Ozlem Goker-Alpan,Benoit I. Giasson,Michael J. Eblan,J. Nguyen,Howard I. Hurtig,Virginia M.-Y. Lee,John Q. Trojanowski,Ellen Sidransky +7 more
TL;DR: The glucocerebrosidase gene was examined in 75 autopsy specimens with different synucleinopathies and identified mutations in 23% of cases of dementia with Lewy bodies, expanding on previous findings in subjects with Parkinson disease.
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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
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela
Michael J. Eblan,Joann Nguyen,Shira G. Ziegler,Alicia Lwin,Melissa Hanson,Marisol Gallardo,Roberto Weiser,Marisel De Lucca,Andrew B. Singleton,Ellen Sidransky +9 more
TL;DR: The glucocerebrosidase gene (GBA) has been examined by different screening techniques in five different cohorts with parkinsonism, finding alterations in GBA may contribute to a vulnerability to the development of parkinsonian symptoms.
Journal ArticleDOI
Perinatal lethal gaucher disease: a distinct phenotype along the neuronopathic continuum
TL;DR: Insights from the null-allele Gaucher mouse model contributed to the identification of this distinct phenotype, which has unique epidermal involvement in Gaucher disease.