1. Yi M, Wang Y, Gao X, Han L, Qiu W, Gu X, Maegawa GHB, Zhang H¥. Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2022 May;45(3):593-604. doi: 10.1002/jimd.12491. Epub 2022 Mar 7. PubMed PMID: 35212421.
2. Han S, Zhang H¥, Yi M, Liu X, Maegawa GHB, Zou Y, Wang Q, Wu D, Ye Z. Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1. Front Pharmacol. 2021 Jun 9;12:667361. doi: 10.3389/fphar.2021.667361. eCollection 2021. PMID: 34177581
3. Hui WW, Emerson LE, Clapp B, Austin E. Sheppe AE, Sharma J, del Castillo J, Ou M, Maegawa GHB, Hoffman C, Larkin J, Pascual DW, Edelmann MJ. Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo. PLoS Pathog. 2021 May;17(5):e1009465. doi: 10.1371/journal.ppat.1009465. eCollection 2021 May. PubMed PMID: 33956909; PubMed Central PMCID: PMC8101724.
4. Hu J, Maegawa GHB, Zhan X, Gao X, Wang Y, Xu F, Qiu W, Han L, Gu X, Zhang H¥. Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B. Hum Mutat. 2021 Mar 6. doi: 10.1002/humu.24192. PMID: 33675270
5. Mallack EJ, Turk B, Yan H, Price C, Demetres M, Moser A, Becker C, Hollandsworth K, Adang L, Vanderver A, Haren KV, Ruzhnikov M, Kurtzberg J, Maegawa GHB, Orchard P, Lund T, Raymond G, Regelmann M, Orsini J, Kemp S, Engelen M, Eichler F, Fatemi F. Surveillance of Boys with X-linked Adrenoleukodystrophy Identified by Newborn Screening: Meta-analysis and Consensus Guidelines. J Inherit Metab Dis. 2020 Dec 29. doi: 10.1002/jimd.12356. Epub 2021 Jan 9. PubMed PMID: 33373467; PubMed Central PMCID: PMC8113077.
6. Edelman MJ, Maegawa GHB. CNS-targeting therapies for lysosomal storage diseases: current advances and challenges. Front Mol Biosci. 2020 Nov 12;7:559804. doi: 10.3389/fmolb.2020.559804. eCollection 2020. Review. PubMed PMID: 33304924; PubMed Central PMCID: PMC7693645.
7. 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.
8. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A, Deciphering Developmental Disorders Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R(29), Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR(37), Masruha MR(38), McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. PubMed PMID: 31079897; PubMed Central PMCID: PMC6556837.
9. Schiffmann R, Goker-Alpan O, Holida M, Giraldo P, Barisoni L, Colvin RB, Jennette JC, 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. PMID: 30834538
10. Maegawa GHB. Leukodystrophies in Lysosomal Storage Diseases. J Child Neurol. 2019 May;34(6):339-358. doi: 10.1177/0883073819828587. Epub 2019 Feb 13. Review. PubMed PMID: 30757954; PubMed Central PMCID: PMC6459700
11. Katabuchi, A. U., Godoy, V., Shil, P., Moser, A., & Maegawa, GHB*. Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease. Mol Genet Metab Rep. 2018 Mar 26;15:98-99 doi: 10.1016/j.ymgmr.2018.03.002. eCollection 2018 Jun. PubMed PMID: 30023296; PubMed Central PMCID: PMC6047113.
12. Metz KA, Teng X, Coppens I, Wang TS, Lamb HM, Chen X, Zhang Y, Haberlandt E, Esther Leshinsky-Silver E, Rosenfeld JA, Bi W, Yang Y, Ong MT, Mordekar SR, Parker MJ, Crooks D, Wagner B, McKnight D, Markello T, Peariso K, Burrow T, Meng H, Pratt M, Makhseed N, Garnica A, Danylchuk NR, Agadi S, Gbedawo H, Stanley C, Jayakar P, Agrawal PJ, Berry GT, Loddenkemper T, Alber M, Isabelle Prehl27, Maegawa GHB, Hartman AL, Hardwick JM. KCTD7 mutations define a distinct neurodegenerative disorder with defective autophagy. Ann Neurol. 2018 Nov;84(5):766-780. doi: 10.1002/ana.25351. Epub 2018 Nov 8. PubMed PMID: 30295347; PubMed Central PMCID: PMC6295419.
13. Nashabat M, Maegawa G, Nissen PH, Nexo E, Al-Shamrani H, Al-Owain M, Alfadhel M. Long Term Outcome of Four Patients with Transcobalamin Deficiency Caused by Two Novel TCN2 Mutations. J Pediatr Hematol Oncol. 2017 Nov;39(8):e430-e436. 2017 Nov;39(8):e430-e436. doi: 10.1097/MPH.0000000000000857. PubMed PMID: 28538514.
14. Jang DS, Katabuchi A, Solomon M, Moser A, Maegawa G*. Identification of psychosine-reducing small molecule agents for Krabbe disease. Mol Genetics Metabol. 120 (2016) S17–S145. J Neurosci Res. 2016 Nov;94(11):1231-45. doi: 10.1002/jnr.23875. PubMed PMID: 27638606; PubMed Central PMCID: PMC5328637.
15. Jang D, Ye W, Tian G, Solomon M, Southall N, Hu X, Marugan J, Ferrer M, Maegawa G*. Cell-based High-throughput Screen identifies GALC Enhancers as Potential Small Molecules Therapies for Krabbe Disease. J Neurosci Res. 2016 Nov;94(11):1231-45. PMID: 27638606. doi: 10.1002/jnr.23875. PubMed PMID: 27638606; PubMed Central PMCID: PMC5328637.
16. Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A et al. Maegawa G, at al. Zughaier SM. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016 Jan 2;12(1):1-222. doi: 10.1080/15548627.2015.1100356. PubMed PMID: 26799652; PubMed Central PMCID: PMC4835977.
17. Lalani S, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc M, Zhu W, Ding Y, Pan S, Miyake C, Shinawi M, Gambin T, Eldomery MK, Akdemir ZHC, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe B, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino C, Scaglia F, Bonnen PE, Duis J, Crosson J, Maegawa GHB, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard N, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent muscle weakness with rhabdomyolysis and cardiac arrhythmia due to bi-allelic TANGO2 mutations. Am J Hum Genet. 2016 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21. PubMed PMID: 26805781; PubMed Central PMCID: PMC4746334.
18. Goker-Alpan O, Gambello MJ, Maegawa GHB, 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.
19. Kano SI, Yuan M, Cardarelli RA, Maegawa G, Higurashi N, Gaval-Cruz M, Wilson AM, Tristan C, Kondo MA, Chen Y, Koga M, Obie C, Ishizuka K, Seshadri S, Srivastava R, Kato TA, Horiuchi Y, Sedlak TW, Lee Y, Rapoport JL, Hirose S, Okano H, Valle D, O'Donnell P, Sawa A, Kai M. Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy. Curr Mol Med. 2015;15(2):138-45. PMID: 25732146 doi: 10.2174/1566524015666150303110300. PubMed PMID: 25732146; PubMed Central PMCID: PMC4428755
20. Teixeira CA, Miranda CO, Sousa MM, Santos TE, Malheiro AR, Solomon M, Maegawa GH, Brites P, Sousa MM. Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease. Neurobiol Dis. 2014 Jun;66:92-103. doi: 10.1016/j.nbd.2014.02.012. Epub 2014 Mar 6. PubMed PMID: 24607884; PubMed Central PMCID: PMC4307018
21. Ribbens J, Moser AB, Hubbard W, Bongarzone E, Maegawa GHB*. A novel disease-cell model for a neurodegenerative lysosomal disease with pathogenic and therapeutic implications. Mol Genet Metab. 2014 Feb;111(2):172-83. doi: 10.1016/j.ymgme.2013.09.011. Epub 2013 Sep 21. PubMed PMID: 24094551; PubMed Central PMCID: PMC3946682
22. Alqahtani E, Huisman TA, Boltshauser E, Scheer I, Güngör T, Tekes A, Maegawa GH*, Poretti A. Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum. Eur J Paediatr Neurol. 2013 Dec 31. pii: S1090-3798(13)00209-2. doi: 10.1016/j.ejpn.2013.11.014. Epub 2013 Dec 31. PubMed PMID: 24423630
23. Pastores GM, Maegawa GH*. Clinical neurogenetics: neuronopathic lysosomal storage disorders. Neurol Clin. 2013 Nov;31(4):1051-71. doi: 10.1016/j.ncl.2013.04.007. PubMed PMID: 24176423; PubMed Central PMCID: PMC3988112
24. Patil SA, Maegawa GH*. Developing therapeutic approaches for metachromatic leukodystrophy. Drug Des Develop Ther. 2013 Aug 8;7:729-45. doi: 10.2147/DDDT.S15467. eCollection 2013. PubMed PMID: 23966770; PubMed Central PMCID: PMC3743609
25. Ribbens J, Whiteley G, Furuya H, Southall N, Hu X, Marugan J, Ferrer M, Maegawa GH* A high-throughput screening assay using Krabbe disease patient cells. Anal Biochem. 2013 Mar 1;434(1):15-25. doi: 10.1016/j.ab.2012.10.034. Epub 2012 Nov 5. PubMed PMID: 23138179; PubMed Central PMCID: PMC3975245
26. Zulfiqar M, Lin DM, Graaf MvD, Barker, PD, Fahrner JA, Marie S, Morava E, Boer LD, Willemsen MAA, Vining E, Horska E, Engelke U, Wevers R, Maegawa GHB*. Novel Proton MR Spectroscopy Findings in Adenylosuccinate Lyase Deficiency. J Magn Reson Imaging. 2013 Apr;37(4):974-80. doi: 10.1002/jmri.23852. Epub 2012 Oct 10. PubMed PMID: 23055421; PubMed Central PMCID: PMC5025321
27. Geng H, Whiteley G, Ribbens J, Zheng W, Southall N, Hu X, Marugan JJ, Ferrer M, Maegawa GHB*. Novel Patient Cell-Based HTS Assay for Identification of Small Molecules for a Lysosomal Storage Disease. PLoS One. 2011;6(12):e29504. doi: 10.1371/journal.pone.0029504. Epub 2011 Dec 21. PubMed PMID: 22216298; PubMed Central PMCID: PMC3244463.
28. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet (Part A). 2009;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. PubMed PMID: 19764032; PubMed Central PMCID: PMC4340070.
29. Maegawa GHB, Tropak M, Buttner JD, Rigat B, Fuller M, Pandit D, Tang L, Kornhaber GJ, Hamuro Y, Clarke JTR, Mahuran DJ. Identification and characterization of ambroxol as an enzyme-enhancement agent for Gaucher disease. J Biol Chem. 2009;284(35):23502-16. doi: 10.1074/jbc.M109.012393. Epub 2009 Jul 3. PubMed PMID: 19578116; PubMed Central PMCID: PMC2749124
30. Maegawa GHB, Banwell B, Blaser S, Hawkins C, Arckerley C, Hayes J, Tlopak M, Sorge G, Clarke JTR. Substrate reduction therapy in juvenile GM2 gangliosidosis. Mol Genet Metab. 2009;98(1-2):215-24. doi: 10.1016/j.ymgme.2009.06.005. Epub 2009 Jun 12. PubMed PMID: 19595619.
31. Maegawa GHB, Giersbergen PV, Yang S, Banwell B, Morgan CP, Tifft C, Clarke JTR. Pharmacokinetics, tolerability and safety of miglustat as treatment of GM2 gangliosidosis. Mol Genet Metab. 2009;97(4):284-91. doi: 10.1016/j.ymgme.2009.04.013. Epub 2009 May 3. PubMed PMID: 19447653.
32. Kornhaber GJ, Tropak MB, Maegawa GHB, Tuske SJ, Coales SJ, Mahuran DJ, Hamuro Y. Isofagomine Induced Stabilization of Glucocerebrosidase. ChemBioChem. 2008 (9), 2643-2649. doi: 10.1002/cbic.200800249. PubMed PMID: 18932186; PubMed Central. doi: 10.1002/cbic.200800249. PubMed PMID: 18932186; PubMed Central PMCID: PMC2910746
33. Tropak, MB, Kornhaber, GJ, Rigat, BA, Maegawa GHB, Buttner J, Blanchard JE, Murphy C, Tuske SJ, Coales SJ, Hamuro Y, Brown E, Mahuran DJ. Identification of pharmacological chaperones for Gaucher disease nd characterization of their effects on b-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. ChemBioChem. 2008 (9), 2650-2662. doi: 10.1002/cbic.200800304. PubMed PMID: 18972510; PubMed Central PMCID: PMC2910749.
34. Maegawa GHB, Poplawski N, Andresen BS, Olpin SE, Nie G, Clarke JTR, Teshima I. Interstitial Deletion of 1p22.2p31.1 and Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Developmental Delay. Am J Med Genet (Part A). 2008 Jun 15;146A(12):1581-6. doi: 10.1002/ajmg.a.32255. PubMed PMID: 18478588
35. Maegawa GH, Tropak M, Buttner J, Stockley T, Kok F, Clarke JT, Mahuran DJ. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem. 2007 Mar 23;282(12):9150-61. doi:10.1074/jbc.M609304200. Epub 2007 Jan 21. PMID: 17237499; PMCID: PMC1851921
36. Maegawa GHB, Stockley T, Tropak M, Kok F, Giugliani R, Mahuran D, Clarke JTR. The natural history of juvenile or subacute GM2 gangliosidosis: 21 unreported cases and literature review of 134 cases. Pediatrics. 2006, Oct 2; e1550-1562. doi: 10.1542/peds.2006-0588. Epub 2006 Oct 2. Review. PubMed PMID: 17015493; PubMed Central PMCID: PMC2910078
37. Maegawa GHB, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P, Kim J, Taylor G, McNamara P. Bilateral microtia with absence of external auditory meati, fused ossicles and Mondini dysplasia, duodenal atresia, anal anomalies, thyroid hemiaplasia and biliary atresia. A new mandibulofacial dysostosis syndrome? Clin Dysmorph. 2006, 15: 191-196. doi: 10.1097/01.mcd.0000198932.09330.33. Review. PubMed PMID: 16957470.
38. Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GHB, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile C, Hennies HC, Horn D. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 2006; 43(5):e22. doi: 10.1136/jmg.2005.039867. PubMed PMID: 16648375; PubMed Central PMCID: PMC2564527.
39. Loguercio JCL, Faermann R, Stein NR, Zandona D, Maegawa G*. Focal dermal hypoplasia associated with split sternum – Goltz syndrome. Clin Dysmorphol. 2005, 14(1):37-9. doi: 10.1097/00019605-200501000-00009. PubMed PMID: 15602093.
40. Bertoli-Avella AM, Giroud-Benitez JL, Ulucan, H, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo N, Gallai V, de Rosa G, Vanacore N, van Duijn CM, Meco G, Oostra BA, Heutink P, Bonifati V and The Italian Parkinson Genetics Network. The contribution of Parkin to Early-Onset Parkinson’s Disease A clinical and genetic study. Mov Disord. 2005, 20(4):424-31. doi: 10.1002/mds.20343. PubMed PMID: 15584030.
41. Maegawa GH, Leite JC, Felix TM, da Silveira HL, da Silveira HE. Clinical variability in KBG syndrome: Report of three unrelated families. Am J Med Genet (Part A). 2004, 131A(2):150-4. doi: 10.1002/ajmg.a.30293. PubMed PMID: 15384099
42. Ghisolfi ES, Maegawa GHB, Becker J, Zanardo AP, Strimitzer IM, Prokopiuk AS, Pereira ML, Carvalho T, Jardim LB, Lara DR. Impaired P50 sensory gating in Machado-Joseph Disease. Clin Neurophysiol. 2004, 115: 2231-2235. doi: 10.1016/j.clinph.2004.04.025. PubMed PMID: 15351363.
43. Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, Parra M, Munoz H, Maranduba CM, Passos-Bueno MR. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet. 2003, 121A(1):41-6. doi: 10.1002/ajmg.a.20101. PubMed PMID: 12900900.
44. Werneck LC, Scola RH, Maegawa GHB, Werneck MC. Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients. Am J Med Genet. 2001, 103(2):115-20. doi: 10.1002/ajmg.1508. PubMed PMID: 11568916.
1. Jiang W, Yi M, Maegawa GHB, Zhang H¥. Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease. J Hum Genet. 2020 Mar;65(3):345-349.doi: 10.1038/s10038-019-0704-3. PMID: 31822786.
2. Satcher KG, Maegawa GHB, Schoch JJ. Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis. Pediatr Dermatol. 2020 Jan;37(1):217-218. doi: 10.1111/pde.13946. Epub 2019 Aug 2. PubMed PMID: 31373408.
3. Ramesh A, Diaz J, Nogee L, Duis J, Jang DS, Lawson C, Maegawa G*. Premature Identical Twin Neonates with Sleep Apnea. Clin Pediatr (Phila). 2017 Oct;56(11):1075-1078. doi: 10.1177/0009922817698810. Epub 2017 Mar 20. PMID: 28871878
4. Rohrbach M, Chitayat D, Maegawa G, Shanske S, Davidzon G, Chong K, Clarke JT, Toi A, Tarnopolsky M, Robinson B, Blaser S. Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence. Fetal Diagn Ther. 2009 Mar 25;25(2):177-182. doi: 10.1159/000209385. Epub 2009 Mar 25. PubMed PMID: 19321960.
5. Scola RH, Werneck LC, Iwamoto FM, Maegawa GHB, Faoro LN, Caldeira FH. [True neurogenic outlet syndrome: report of 2 cases]. Arq Neuropsiquiatr. 1999; 57:659-65. doi: 10.1590/s0004-282x1999000400020. PubMed PMID: 10667293.
6. Scola RH, Werneck LC, Iwamoto FM, Cabral NL, Maegawa GHB, Rogacheski E. [Ossification of the posterior longitudinal ligament in the cervical spine: case report]. Arq Neuropsiquiatr. 1998; 56:480-485. doi: 10.1590/s0004-282x1998000300021. PubMed PMID: 9754433.