Ivanova MM,  Dao J,  Kasaci N,  Adewale B,  Nazari S, Noll L,  Fikry J,  Sanati A, Ozlem Goker-Alpan. Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease. PlosOne. 2021 Oct 25;16(10):e0247211

 

Ivanova MM. Altered sphingolipids metabolism damaged mitochondrial functions: lessons learned from Gaucher and Fabry diseases. J. Clin. Med. 2020, 9(4), 1116

Ivanova M, Dao J, Noll L, Fikry J, Goker-Alpan O. TRAP5b and RANKL/OPG Predict Bone Pathology in Patients with Gaucher Disease. J Clin Med. 2021 May 20;10(10). doi: 10.3390/jcm10102217. PubMed PMID: 34065531; PubMed Central PMCID: PMC8160801.

Limgala RP, Furtak V, Ivanova MM, Changsila E, Wilks F, Fidelia-Lambert MN, Goker-Alpan O, Gondré-Lewis MC. Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants. JIMD Rep. 2021 May;59(1):60-68. doi: 10.1002/jmd2.12201. eCollection 2021 May. PubMed PMID: 33977031; PubMed Central PMCID: PMC8100401.

Limgala RP, Fikry J, Veligatla V, Goker-Alpan O. The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease. Int J Mol Sci. 2020 Sep 29;21(19). doi: 10.3390/ijms21197213. PubMed PMID: 33003611; PubMed Central PMCID: PMC7583043.

Goker-Alpan O, Kasturi VG, Sohi MK, Limgala RP, Austin SL, Jennelle T, Banikazemi M, Kishnani PS. Pregnancy Outcomes in Late Onset Pompe Disease. Life (Basel). 2020 Sep 11;10(9). doi: 10.3390/life10090194. PubMed PMID: 32932790; PubMed Central PMCID: PMC7556025.

 

Schiffmann R, Sevigny J, Rolfs A, Davies EH, Goker-Alpan O, Abdelwahab M, Vellodi A, Mengel E, Lukina E, Yoo HW, Collin-Histed T, Narita A, Dinur T, Revel-Vilk S, Arkadir D, Szer J, Wajnrajch M, Ramaswami U, Sidransky E, Donald A, Zimran A. The definition of neuronopathic Gaucher disease. J Inherit Metab Dis. 2020 Sep;43(5):1056-1059. doi: 10.1002/jimd.12235. Epub 2020 Apr 3. PubMed PMID: 32242941; PubMed Central PMCID: PMC7540563.

 

Mistry P, Balwani M, Barbouth D, Burrow TA, Ginns EI, Goker-Alpan O, Grabowski GA, Kartha RV, Kishnani PS, Lau H, Lee CU, Lopez G, Maegawa G, Packman S, Prada C, Rosenbloom B, Lal TR, Schiffmann R, Weinreb N, Sidransky E. Gaucher disease and SARS-CoV-2 infection: Emerging management challenges. Mol Genet Metab. 2020 Jul;130(3):164-169. doi: 10.1016/j.ymgme.2020.05.002. Epub 2020 May 11. PubMed PMID: 32471800; PubMed Central PMCID: PMC7211677.

 

Ivanova MM, Dao J, Kasaci N, Adewale B, Fikry J, Goker-Alpan O. Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy. Biomolecules. 2020 May 30;10(6). doi: 10.3390/biom10060837. PubMed PMID: 32486191; PubMed Central PMCID: PMC7356514.

 

Limgala RP, Goker-Alpan O. Effect of Substrate Reduction Therapy in Comparison to Enzyme Replacement Therapy on Immune Aspects and Bone Involvement in Gaucher Disease. Biomolecules. 2020 Mar 31;10(4). doi: 10.3390/biom10040526. PubMed PMID: 32244296; PubMed Central PMCID: PMC7226435.

 

Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar;41(3):632-640. doi: 10.1002/humu.23950. Epub 2019 Nov 25. PubMed PMID: 31696996; NIHMSID:NIHMS1061903.

 

Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P. Gaucher Disease in Bone: From Pathophysiology to Practice. J Bone Miner Res. 2019 Jun;34(6):996-1013. doi: 10.1002/jbmr.3734. Epub 2019 Jun 24. Review. PubMed PMID: 31233632; PubMed Central PMCID: PMC6852006.

 

Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette CJ, Maegawa G, Boyadjiev SA, Gonzalez D, Nicholls K, Tuffaha A, Atta MG, Rup B, Charney MR, Paz A, Szlaifer M, Alon S, Brill-Almon E, Chertkoff R, Hughes D. 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. J Inherit Metab Dis. 2019 May;42(3):534-544. doi: 10.1002/jimd.12080. Epub 2019 Apr 8. PubMed PMID: 30834538.

 

Mehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, Vom Dahl S, Deodato F, Di Rocco M, Goker-Alpan O, Hughes DA, Lukina EA, Machaczka M, Mengel E, Nagral A, Nakamura K, Narita A, Oliveri B, Pastores G, Pérez-López J, Ramaswami U, Schwartz IV, Szer J, Weinreb NJ, Zimran A. Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative. Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Review. PubMed PMID: 30414226; PubMed Central PMCID: PMC6852187.

 

Limgala RP, Jennelle T, Plassmeyer M, Boutin M, Lavoie P, Abaoui M, Auray-Blais C, Nedd K, Alpan O, Goker-Alpan O. Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta. Am J Transl Res. 2019;11(3):1683-1696. eCollection 2019. PubMed PMID: 30972193; PubMed Central PMCID: PMC6456521.

 

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study. Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17. PubMed PMID: 30770310.

Ivanova MM, Changsila E, Iaonou C, Goker-Alpan O. Impaired autophagic and mitochondrial functions are partially restored by ERT in Gaucher and Fabry diseases. PLoS One. 2019;14(1):e0210617. doi: 10.1371/journal.pone.0210617. eCollection 2019. PubMed PMID: 30633777; PubMed Central PMCID: PMC6329517.

 

Ivanova MM, Changsila E, Turgut A, Goker-Alpan O. Individualized screening for chaperone activity in Gaucher disease using multiple patient derived primary cell lines. Am J Transl Res. 2018;10(11):3750-3761. eCollection 2018. PubMed PMID: 30662625; PubMed Central PMCID: PMC6291725.

 

Danilov SM, Tikhomirova VE, Metzger R, Naperova IA, Bukina TM, Goker-Alpan O, Tayebi N, Gayfullin NM, Schwartz DE, Samokhodskaya LM, Kost OA, Sidransky E. ACE phenotyping in Gaucher disease. Mol Genet Metab. 2018 Apr;123(4):501-510. doi: 10.1016/j.ymgme.2018.02.007. Epub 2018 Feb 17. PubMed PMID: 29478818; PubMed Central PMCID: PMC5891352.

 

Schwartz IVD, Goker-Alpan O, Kishnani PS, Zimran A, Renault L, Panahloo Z, Deegan P. Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey. Mol Genet Metab Rep. 2018 Mar;14:73-79. doi: 10.1016/j.ymgmr.2017.10.011. eCollection 2018 Mar. PubMed PMID: 29326879; PubMed Central PMCID: PMC5758841.

 

Ivanova M, Limgala RP, Changsila E, Kamath R, Ioanou C, Goker-Alpan O. Gaucheromas: When macrophages promote tumor formation and dissemination. Blood Cells Mol Dis. 2018 Feb;68:100-105. doi: 10.1016/j.bcmd.2016.10.018. Epub 2016 Oct 27. PubMed PMID: 27839983.

 

Lau H, Belmatoug N, Deegan P, Goker-Alpan O, Schwartz IVD, Shankar SP, Panahloo Z, Zimran A. Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey. Blood Cells Mol Dis. 2018 Feb;68:226-231. doi: 10.1016/j.bcmd.2016.10.003. Epub 2016 Oct 20. PubMed PMID: 27839985.

 

Zimran A, Belmatoug N, Bembi B, Deegan P, Elstein D, Fernandez-Sasso D, Giraldo P, Goker-Alpan O, Lau H, Lukina E, Panahloo Z, Schwartz IVD. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). Am J Hematol. 2018 Feb;93(2):205-212. doi: 10.1002/ajh.24957. Epub 2017 Dec 12. PubMed PMID: 29090476; PubMed Central PMCID: PMC5814927.

 

Limgala RP, Jani C, Ioanou C, Alpan O, Goker-Alpan O. Enzyme replacement therapy reverses B lymphocyte and dendritic cell dysregulations in patients with Gaucher Disease. Blood Cells Mol Dis. 2018 Feb;68:81-85. doi: 10.1016/j.bcmd.2016.10.015. Epub 2016 Oct 28. PubMed PMID: 27839980.

 

Mehta A, Belmatoug N, Bembi B, Deegan P, Elstein D, Goker-Alpan O, Lukina E, Mengel E, Nakamura K, Pastores GM, Pérez-López J, Schwartz I, Serratrice C, Szer J, Zimran A, Di Rocco M, Panahloo Z, Kuter DJ, Hughes D. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians. Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4. PubMed PMID: 28847676.

 

Kishnani P, Tarnopolsky M, Roberts M, Sivakumar K, Dasouki M, Dimachkie MM, Finanger E, Goker-Alpan O, Guter KA, Mozaffar T, Pervaiz MA, Laforet P, Levine T, Adera M, Lazauskas R, Sitaraman S, Khanna R, Benjamin E, Feng J, Flanagan JJ, Barth J, Barlow C, Lockhart DJ, Valenzano KJ, Boudes P, Johnson FK, Byrne B. Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α. Mol Ther. 2017 May 3;25(5):1199-1208. doi: 10.1016/j.ymthe.2017.02.017. Epub 2017 Mar 22. PubMed PMID: 28341561; PubMed Central PMCID: PMC5417791.

 

Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJM, Tayag R, Peterschmitt MJ. Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy. Blood. 2017 Apr 27;129(17):2375-2383. doi: 10.1182/blood-2016-12-758409. Epub 2017 Feb 6. PubMed PMID: 28167660; PubMed Central PMCID: PMC5409450.

 

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. PubMed PMID: 27834756; PubMed Central PMCID: PMC5502308.

 

Shen JS, Arning E, West ML, Day TS, Chen S, Meng XL, Forni S, McNeill N, Goker-Alpan O, Wang X, Ashcraft P, Moore DF, Cheng SH, Schiffmann R, Bottiglieri T. Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease. Hum Mol Genet. 2017 Mar 15;26(6):1182-1192. doi: 10.1093/hmg/ddx032. PubMed PMID: 28158561.

 

Limgala RP, Ioanou C, Plassmeyer M, Ryherd M, Kozhaya L, Austin L, Abidoglu C, Unutmaz D, Alpan O, Goker-Alpan O. Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease. PLoS One. 2016;11(12):e0168135. doi: 10.1371/journal.pone.0168135. eCollection 2016. PubMed PMID: 27942037; PubMed Central PMCID: PMC5152900.

 

Pleat R, Cox TM, Burrow TA, Giraldo P, Goker-Alpan O, Rosenbloom BE, Croal LR, Underhill LH, Gaemers SJ, Peterschmitt MJ. Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial. Mol Genet Metab Rep. 2016 Dec;9:25-28. doi: 10.1016/j.ymgmr.2016.08.009. eCollection 2016 Dec. PubMed PMID: 27722092; PubMed Central PMCID: PMC5050260.

 

Horowitz M, Elstein D, Zimran A, Goker-Alpan O. New Directions in Gaucher Disease. Hum Mutat. 2016 Nov;37(11):1121-1136. doi: 10.1002/humu.23056. Epub 2016 Aug 21. Review. PubMed PMID: 27449603.

 

van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study. Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19. PubMed PMID: 27473031.

 

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. PubMed PMID: 27509102.

 

Sønder SU, Limgala RP, Ivanova MM, Ioanou C, Plassmeyer M, Marti GE, Alpan O, Goker-Alpan O. Persistent immune alterations and comorbidities in splenectomized patients with Gaucher disease. Blood Cells Mol Dis. 2016 Jul;59:8-15. doi: 10.1016/j.bcmd.2016.02.003. Epub 2016 Feb 15. PubMed PMID: 27282561.

 

Goker-Alpan O, Longo N, McDonald M, Shankar SP, Schiffmann R, Chang P, Shen Y, Pano A. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy. Drug Des Devel Ther. 2016;10:1771-81. doi: 10.2147/DDDT.S102761. eCollection 2016. PubMed PMID: 27307708; PubMed Central PMCID: PMC4887054.

 

Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurol Genet. 2016 Apr;2(2):e57. doi: 10.1212/NXG.0000000000000057. eCollection 2016 Apr. PubMed PMID: 27123476; PubMed Central PMCID: PMC4830189.

 

Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N. Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Mol Genet Metab. 2016 Feb;117(2):95-103. doi: 10.1016/j.ymgme.2015.09.002. Epub 2015 Sep 7. Review. PubMed PMID: 26387627.

 

Goker-Alpan O, Gambello MJ, Maegawa GH, Nedd KJ, Gruskin DJ, Blankstein L, Weinreb NJ. Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease. JIMD Rep. 2016;25:95-106. doi: 10.1007/8904_2015_483. Epub 2015 Aug 25. PubMed PMID: 26303609; PubMed Central PMCID: PMC5059194.

 

Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, Eyskens F, Shankar S, Adera M, Sitaraman S, Khanna R, Flanagan JJ, Wustman BA, Barth J, Barlow C, Valenzano KJ, Lockhart DJ, Boudes P, Johnson FK. Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. PLoS One. 2015;10(8):e0134341. doi: 10.1371/journal.pone.0134341. eCollection 2015. PubMed PMID: 26252393; PubMed Central PMCID: PMC4529213.

 

Goláň L, Goker-Alpan O, Holida M, Kantola I, Klopotowski M, Kuusisto J, Linhart A, Musial J, Nicholls K, Gonzalez-Rodriguez D, Sharma R, Vujkovac B, Chang P, Wijatyk A. Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease. Drug Des Devel Ther. 2015;9:3435-44. doi: 10.2147/DDDT.S80928. eCollection 2015. PubMed PMID: 26185417; PubMed Central PMCID: PMC4501226.

 

Goker-Alpan O, Nedd K, Shankar SP, Lien YH, Weinreb N, Wijatyk A, Chang P, Martin R. Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Agalsidase Beta or Agalsidase Alfa. JIMD Rep. 2015;23:7-15. doi: 10.1007/8904_2015_422. Epub 2015 Mar 31. PubMed PMID: 25822820; PubMed Central PMCID: PMC4484907.

 

Loizou D, Enav B, Komlodi-Pasztor E, Hider P, Kim-Chang J, Noonan L, Taber T, Kaushal S, Limgala R, Brown M, Gupta R, Balba N, Goker-Alpan O, Khojah A, Alpan O. A pilot study of omalizumab in eosinophilic esophagitis. PLoS One. 2015;10(3):e0113483. doi: 10.1371/journal.pone.0113483. eCollection 2015. PubMed PMID: 25789989; PubMed Central PMCID: PMC4366078.

 

Thurberg BL, Carlier P, Kissel JT, Schoser B, Pestronk A, Barohn RJ, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Young P, Shafi R, Bjartmar C, van der Ploeg A. A Phase 4 Prospective Study in Patients with Adult Pompe Disease Treated with Alglucosidase Alfa. J Neuromuscul Dis. 2015;2(s1):S72-S73. PubMed PMID: 27858658.

 

Pastores GM, Rosenbloom B, Weinreb N, Goker-Alpan O, Grabowski G, Cohn GM, Zahrieh D. A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genet Med. 2014 May;16(5):359-66. doi: 10.1038/gim.2013.154. Epub 2013 Nov 21. PubMed PMID: 24263462; PubMed Central PMCID: PMC4018500.

 

Elstein D, Hughes D, Goker-Alpan O, Stivel M, Baris HN, Cohen IJ, Granovsky-Grisaru S, Samueloff A, Mehta A, Zimran A. Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease. J Obstet Gynaecol Res. 2014 Apr;40(4):968-75. doi: 10.1111/jog.12254. Epub 2014 Feb 26. PubMed PMID: 24612151.


Goker-Alpan O. Commentary on "Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease" by Zimran et al. Blood Cells Mol Dis. 2013 Feb;50(2):138-9. doi: 10.1016/j.bcmd.2012.09.007. Epub 2012 Oct 18. PubMed PMID: 23083682.

 

Goker-Alpan O, Masdeu JC, Kohn PD, Ianni A, Lopez G, Groden C, Chapman MC, Cropp B, Eisenberg DP, Maniwang ED, Davis J, Wiggs E, Sidransky E, Berman KF. The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow. Brain. 2012 Aug;135(Pt 8):2440-8. doi: 10.1093/brain/aws174. PubMed PMID: 22843412; PubMed Central PMCID: PMC3407426.

 

Oppenheim IM, Canon AM, Barcenas W, Groden C, Goker-Alpan O, Resnik CS, Sidransky E. Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease. Skeletal Radiol. 2011 Dec;40(12):1611-5. doi: 10.1007/s00256-011-1260-x. Epub 2011 Sep 20. PubMed PMID: 21935720; PubMed Central PMCID: PMC3348707.

 

Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab. 2011 Dec;104(4):438-47. doi: 10.1016/j.ymgme.2011.08.004. Epub 2011 Aug 11. Review. PubMed PMID: 21889384.

 

Chan A, Holleran WM, Ferguson T, Crumrine D, Goker-Alpan O, Schiffmann R, Tayebi N, Ginns EI, Elias PM, Sidransky E. Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications. Mol Genet Metab. 2011 Dec;104(4):631-6. doi: 10.1016/j.ymgme.2011.09.008. Epub 2011 Sep 16. PubMed PMID: 21982627; PubMed Central PMCID: PMC3224209.

 

Velayati A, DePaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. A mutation in SCARB2 is a modifier in Gaucher disease. Hum Mutat. 2011 Nov;32(11):1232-8. doi: 10.1002/humu.21566. Epub 2011 Sep 15. PubMed PMID: 21796727; PubMed Central PMCID: PMC3196787.

 

Goker-Alpan O, Stubblefield BK, Giasson BI, Sidransky E. Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders. Acta Neuropathol. 2010 Nov;120(5):641-9. doi: 10.1007/s00401-010-0741-7. Epub 2010 Sep 14. PubMed PMID: 20838799; PubMed Central PMCID: PMC3352317.

 

Goker-Alpan O. Optimal therapy in Gaucher disease. Ther Clin Risk Manag. 2010 Jul 21;6:315-23. doi: 10.2147/tcrm.s6955. PubMed PMID: 20668714; PubMed Central PMCID: PMC2909498.