Is Parkinson Disease Associated with Lysosomal Intergral Membrane Protein Type-2 ?: Challenges in Interpreting Association Data

Por Maniwang, Emerson, Tayebi, Nahid, Sidransky, Ellen
Publicado em 2013

Lysosomal Integral Membrane Protein-2: A New Player in Lysosome-Related Pathology

Por Gonzalez, Ashley, Valeiras, Mark, Sidransky, Ellen, Tayebi, Nahid
Publicado em 2013

Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases

Por Miri-Moghaddam, Ebrahim, Velayati, Arash, Naderi, Majid, Tayebi, Nahid, Sidransky, Ellen
Publicado em 2010

Identification of Recombinant Alleles Using Quantitative Real-Time PCR: Implications for Gaucher Disease

Por Velayati, Arash, Knight, Melanie A., Stubblefield, Barbara K., Sidransky, Ellen, Tayebi, Nahid
Publicado em 2011

Identification of Three Additional Genes Contiguous to the Glucocerebrosidase Locus on Chromosome 1q21: Implications for Gaucher Disease

Por Winfield, Suzanne L., Tayebi, Nahid, Martin, Brian M., Ginns, Edward I., Sidransky, Ellen
Publicado em 1997

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations

Por Choi, Jae Hyuk, Stubblefield, Barbara, Cookson, Mark R., Goldin, Ehud, Velayati, Arash, Tayebi, Nahid, Sidransky, Ellen
Publicado em 2011

False-Positive Results Using a Gaucher Diagnostic Kit - RecTL and N370S

Por Choi, Jae Hyuk, Velayati, Arash, Stubblefield, Barbara K., Orr-Urtreger, Avi, Gan-Or, Ziv, Tayebi, Nahid, Sidransky, Ellen
Publicado em 2010

Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease

Por Tayebi, Nahid, Stubblefield, Barbara K., Park, Joseph K., Orvisky, Eduard, Walker, Jamie M., LaMarca, Mary E., Sidransky, Ellen
Publicado em 2003

Gaucher disease type 2 — Homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions

Por Baris, Hagit N., Raas-Rothschild, Annick, Garty, Ben-Zion, Tor, Ruth, Klontz, Sarah, Tayebi, Nahid, Sidransky, Ellen, Cohen, Ian J.
Publicado em 2011

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

Por Saranjam, Hamid, Chopra, Sameer S, Levy, Harvey, Stubblefield, Barbara K, Maniwang, Emerson, Cohen, Ian J, Baris, Hagit, Sidransky, Ellen, Tayebi, Nahid
Publicado em 2013

Skin Ultrastructural Findings in Type 2 Gaucher Disease: Diagnostic Implications

Por Chan, Aegean, Holleran, Walter, Ferguson, Tajh, Crumrine, Debra, Goker-Alpan, Ozlem, Schiffmann, Raphael, Tayebi, Nahid, Ginns, Edward I., Elias, Peter, Sidransky, Ellen
Publicado em 2011

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease

Por Murphy, Karen E., Gysbers, Amanda M., Abbott, Sarah K., Tayebi, Nahid, Kim, Woojin S., Sidransky, Ellen, Cooper, Antony, Garner, Brett, Halliday, Glenda M.
Publicado em 2014

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

Por Lopez, Grisel, Kim, Jenny, Wiggs, Edythe, Cintron, Dahima, Groden, Catherine, Tayebi, Nahid, Mistry, Pramod K., Pastores, Gregory M., Zimran, Ari, Goker-Alpan, Ozlem, Sidransky, Ellen
Publicado no Neurol Genet (2016)

Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs

Por Aflaki, Elma, Stubblefield, Barbara K., Maniwang, Emerson, Lopez, Grisel, Moaven, Nima, Goldin, Ehud, Marugan, Juan, Patnaik, Samarjit, Dutra, Amalia, Southall, Noel, Zheng, Wei, Tayebi, Nahid, Sidransky, Ellen
Publicado em 2014

A mutation in SCARB2 is a modifier in Gaucher disease

Por Velayati, Arash, DePaolo, John, Gupta, Nidhi, Choi, Jae H., Moaven, Nima, Westbroek, Wendy, Goker-Alpan, Ozlem, Goldin, Ehud, Stubblefield, Barbara K., Kolodny, Edwin, Tayebi, Nahid, Sidransky, Ellen
Publicado em 2011

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

Por Panicker, Leelamma M., Miller, Diana, Park, Tea Soon, Patel, Brijesh, Azevedo, Judi L., Awad, Ola, Masood, M. Athar, Veenstra, Timothy D., Goldin, Ehud, Stubblefield, Barbara K., Tayebi, Nahid, Polumuri, Swamy K., Vogel, Stefanie N., Sidransky, Ellen, Zambidis, Elias T., Feldman, Ricardo A.
Publicado em 2012

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

Por Westbroek, Wendy, Nguyen, Matthew, Siebert, Marina, Lindstrom, Taylor, Burnett, Robert A., Aflaki, Elma, Jung, Olive, Tamargo, Rafael, Rodriguez-Gil, Jorge L., Acosta, Walter, Hendrix, An, Behre, Bahafta, Tayebi, Nahid, Fujiwara, Hideji, Sidhu, Rohini, Renvoise, Benoit, Ginns, Edward I., Dutra, Amalia, Pak, Evgenia, Cramer, Carole, Ory, Daniel S., Pavan, William J., Sidransky, Ellen
Publicado no Dis Model Mech (2016)

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

Por Nalls, Michael A., Duran, Raquel, Lopez, Grisel, Kurzawa-Akanbi, Marzena, McKeith, Ian G., Chinnery, Patrick F., Morris, Christopher M., Theuns, Jessie, Crosiers, David, Cras, Patrick, Engelborghs, Sebastiaan, De Deyn, Peter Paul, Van Broeckhoven, Christine, Mann, David M. A., Snowden, Julie, Pickering-Brown, Stuart, Halliwell, Nicola, Davidson, Yvonne, Gibbons, Linda, Harris, Jenny, Sheerin, Una-Marie, Bras, Jose, Hardy, John, Clark, Lorraine, Marder, Karen, Honig, Lawrence S., Berg, Daniela, Maetzler, Walter, Brockmann, Kathrin, Gasser, Thomas, Novellino, Fabiana, Quattrone, Aldo, Annesi, Grazia, De Marco, Elvira Valeria, Rogaeva, Ekaterina, Masellis, Mario, Black, Sandra E., Bilbao, Juan M., Foroud, Tatiana, Ghetti, Bernardino, Nichols, William C., Pankratz, Nathan, Halliday, Glenda, Lesage, Suzanne, Klebe, Stephan, Durr, Alexandra, Duyckaerts, Charles, Brice, Alexis, Giasson, Benoit I., Trojanowski, John Q., Hurtig, Howard I., Tayebi, Nahid, Landazabal, Claudia, Knight, Melanie A., Keller, Margaux, Singleton, Andrew B., Wolfsberg, Tyra G., Sidransky, Ellen
Publicado em 2013

Multi-center analysis of glucocerebrosidase mutations in Parkinson disease

Por Sidransky, Ellen, Nalls, Michael A., Aasly, Jan O., Aharon-Peretz, Judith, Annesi, Grazia, Barbosa, Egberto Reis, Bar-Shira, Anat, Berg, Daniela, Bras, Jose, Brice, Alexis, Chen, Chiung-Mei, Clark, Lorraine N., Condroyer, Christel, De Marco, Elvira Valeria, Dürr, Alexandra, Eblan, Michael J., Fahn, Stanley, Farrer, Matthew, Fung, Hon-Chung, Gan-Or, Ziv, Gasser, Thomas, Gershoni-Baruch, Ruth, Giladi, Nir, Griffith, Alida, Gurevich, Tanya, Januario, Cristina, Kropp, Peter, Lang, Anthony E., Lee-Chen, Guey-Jen, Lesage, Suzanne, Marder, Karen, Mata, Ignacio F., Mirelman, Anat, Mitsui, Jun, Mizuta, Ikuko, Nicoletti, Giuseppe, Oliveira, Catarina, Ottman, Ruth, Orr-Urtreger, Avi, Pereira, Lygia V., Quattrone, Aldo, Rogaeva, Ekaterina, Rolfs, Arndt, Rosenbaum, Hanna, Rozenberg, Roberto, Samii, Ali, Samaddar, Ted, Schulte, Claudia, Sharma, Manu, Singleton, Andrew, Spitz, Mariana, Tan, Eng-King, Tayebi, Nahid, Toda, Tatsushi, Troiano, André, Tsuji, Shoji, Wittstock, Matthias, Wolfsberg, Tyra G., Wu, Yih-Ru, Zabetian, Cyrus P., Zhao, Yi, Ziegler, Shira G.
Publicado em 2009