Gaucher Disease in Bone: From Pathophysiology to Practice
Hughes, Derralynn, Mikosch, Peter, Belmatoug, Nadia, Carubbi, Francesca, Cox, TimothyM, Goker‐Alpan, Ozlem, Kindmark, Andreas, Mistry, PramodK, Poll, Ludger, Weinreb, Neal, Deegan, Patrick
Published in Journal of bone and mineral research (01.06.2019)
Published in Journal of bone and mineral research (01.06.2019)
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Journal Article
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial
Schiffmann, Raphael, Goker‐Alpan, Ozlem, Holida, Myrl, Giraldo, Pilar, Barisoni, Laura, Colvin, Robert B., Jennette, Charles J., Maegawa, Gustavo, Boyadjiev, Simeon A., Gonzalez, Derlis, Nicholls, Kathy, Tuffaha, Ahmad, Atta, Mohamed G., Rup, Bonita, Charney, Martha R., Paz, Alona, Szlaifer, Mali, Alon, Sari, Brill‐Almon, Einat, Chertkoff, Raul, Hughes, Derralynn
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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Journal Article
The definition of neuronopathic Gaucher disease
Schiffmann, Raphael, Sevigny, Jeff, Rolfs, Arndt, Davies, Elin Haf, Goker‐Alpan, Ozlem, Abdelwahab, Magy, Vellodi, Ashok, Mengel, Eugen, Lukina, Elena, Yoo, Han‐Wook, Collin‐Histed, Tanya, Narita, Aya, Dinur, Tama, Revel‐Vilk, Shoshana, Arkadir, David, Szer, Jeff, Wajnrajch, Michael, Ramaswami, Uma, Sidransky, Ellen, Donald, Aimee, Zimran, Ari
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Journal Article
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era
Gleason, Adenrele M., D'Souza, Andrea, Ryan, Emory, Grochowsky, Angela R., Carter, Camille R., Goker‐Alpan, Ozlem, Lopez, Grisel, Tayebi, Nahid, Sidransky, Ellen
Published in American journal of medical genetics. Part A (01.07.2023)
Published in American journal of medical genetics. Part A (01.07.2023)
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Journal Article
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia
Gu, Shen, Chen, Chun‐An, Rosenfeld, Jill A., Cope, Heidi, Launay, Nathalie, Flanigan, Kevin M., Waldrop, Megan A., Schrader, Rachel, Juusola, Jane, Goker‐Alpan, Ozlem, Milunsky, Aubrey, Schlüter, Agatha, Troncoso, Mónica, Pujol, Aurora, Tan, Queenie K.‐G., Schaaf, Christian P., Meng, Linyan
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
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Journal Article
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism
DePaolo, John, Goker-Alpan, Ozlem, Samaddar, Ted, Lopez, Grisel, Sidransky, Ellen
Published in Movement disorders (15.08.2009)
Published in Movement disorders (15.08.2009)
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Journal Article
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
Limgala, Renuka Pudi, Furtak, Vyacheslav, Ivanova, Margarita M., Changsila, Erk, Wilks, Floyd, Fidelia‐Lambert, Marie N., Goker‐Alpan, Ozlem, Gondré‐Lewis, Marjorie C.
Published in JIMD reports (01.05.2021)
Published in JIMD reports (01.05.2021)
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Journal Article
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease
Elstein, Deborah, Hughes, Derralynn, Goker-Alpan, Ozlem, Stivel, Miriam, Baris, Hagit N., Cohen, Ian J., Granovsky-Grisaru, Sorina, Samueloff, Arnon, Mehta, Atul, Zimran, Ari
Published in The journal of obstetrics and gynaecology research (01.04.2014)
Published in The journal of obstetrics and gynaecology research (01.04.2014)
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Journal Article
Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases
Ivanova, Margarita M, Changsila, Erk, Iaonou, Chidima, Goker-Alpan, Ozlem
Published in PloS one (11.01.2019)
Published in PloS one (11.01.2019)
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Journal Article
Neuronopathic Gaucher disease: Rare in the West, common in the East
Goker-Alpan, Ozlem, Ivanova, Margarita M
Published in Journal of inherited metabolic disease (20.05.2024)
Published in Journal of inherited metabolic disease (20.05.2024)
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Journal Article
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Germain, Dominique P, Hughes, Derralynn A, Nicholls, Kathleen, Bichet, Daniel G, Giugliani, Roberto, Wilcox, William R, Feliciani, Claudio, Shankar, Suma P, Ezgu, Fatih, Amartino, Hernan, Bratkovic, Drago, Feldt-Rasmussen, Ulla, Nedd, Khan, Sharaf El Din, Usama, Lourenco, Charles M, Banikazemi, Maryam, Charrow, Joel, Dasouki, Majed, Finegold, David, Giraldo, Pilar, Goker-Alpan, Ozlem, Longo, Nicola, Scott, C. Ronald, Torra, Roser, Tuffaha, Ahmad, Jovanovic, Ana, Waldek, Stephen, Packman, Seymour, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Benjamin, Elfrida R, Johnson, Franklin, Lockhart, David J, Skuban, Nina, Castelli, Jeff, Barth, Jay, Barlow, Carrolee, Schiffmann, Raphael
Published in The New England journal of medicine (11.08.2016)
Published in The New England journal of medicine (11.08.2016)
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Journal Article
New Directions in Gaucher Disease
Horowitz, Mia, Elstein, Deborah, Zimran, Ari, Goker-Alpan, Ozlem
Published in Human mutation (01.11.2016)
Published in Human mutation (01.11.2016)
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Journal Article
A pilot study of omalizumab in eosinophilic esophagitis
Loizou, Denise, Enav, Benjamin, Komlodi-Pasztor, Edina, Hider, Pamela, Kim-Chang, Julie, Noonan, Laura, Taber, Tabitha, Kaushal, Suhasini, Limgala, Renuka, Brown, Margaret, Gupta, Raavi, Balba, Nader, Goker-Alpan, Ozlem, Khojah, Amer, Alpan, Oral
Published in PloS one (19.03.2015)
Published in PloS one (19.03.2015)
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Journal Article
Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease
Ivanova, Margarita M, Dao, Julia, Kasaci, Neil, Adewale, Benjamin, Nazari, Shaista, Noll, Lauren, Fikry, Jacqueline, Sanati, Armaghan Hafez, Goker-Alpan, Ozlem
Published in PloS one (25.10.2021)
Published in PloS one (25.10.2021)
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Journal Article
Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)
Zimran, Ari, Belmatoug, Nadia, Bembi, Bruno, Deegan, Patrick, Elstein, Deborah, Fernandez‐Sasso, Diego, Giraldo, Pilar, Goker‐Alpan, Ozlem, Lau, Heather, Lukina, Elena, Panahloo, Zoya, Schwartz, Ida Vanessa D.
Published in American journal of hematology (01.02.2018)
Published in American journal of hematology (01.02.2018)
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Journal Article
The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease
Limgala, Renuka P, Fikry, Jaqueline, Veligatla, Vasudha, Goker-Alpan, Ozlem
Published in International journal of molecular sciences (01.10.2020)
Published in International journal of molecular sciences (01.10.2020)
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Journal Article
Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease
Ivanova, Margarita M, Dao, Julia, Kasaci, Neil, Friedman, Andrew, Noll, Lauren, Goker-Alpan, Ozlem
Published in Frontiers in endocrinology (Lausanne) (24.11.2022)
Published in Frontiers in endocrinology (Lausanne) (24.11.2022)
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Journal Article
Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease
Margarita M Ivanova, Julia Dao, Neil Kasaci, Benjamin Adewale, Shaista Nazari, Lauren Noll, Jacqueline Fikry, Armaghan Hafez Sanati, Ozlem Goker-Alpan
Published in PloS one (25.10.2021)
Published in PloS one (25.10.2021)
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Journal Article