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Gustavo Maegawa

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Maria Zulfiqar; Peter B Barker; Lonneke De Boer; Udo Engelke; Jill A Fahrner; ALENA HORSKA; Doris D M Lin; Sandrine Marie; Eva Morava; Marinette van der Graaf; Eileen P G Vining; Ron A Wevers; Michel A A P Willemsen; Gustavo Maegawa
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Jameson Ribbens; Noel Southall; Grace Whiteley; Juan Marugan; Marc Ferrer; Hirokazu Furuya; Xin Hu; Gustavo Maegawa
A high-throughput screening assay using Krabbe disease patient cells.
Gustavo Maegawa
GM2 gangliosidosis: the prototype of lysosomal storage disorders.

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2013: Maria Zulfiqar; Peter B Barker; Lonneke De Boer; Udo Engelke; Jill A Fahrner; ALENA HORSKA; Doris D M Lin; Sandrine Marie; Eva Morava; Marinette van der Graaf; Eileen P G Vining; Ron A Wevers; Michel A A P Willemsen; Gustavo Maegawa
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Journal of magnetic resonance imaging : JMRI 2013;37(4):974-80.
2013: Jameson Ribbens; Noel Southall; Grace Whiteley; Juan Marugan; Marc Ferrer; Hirokazu Furuya; Xin Hu; Gustavo Maegawa
A high-throughput screening assay using Krabbe disease patient cells.
Analytical biochemistry 2013;434(1):15-25.
2012: Gustavo Maegawa
GM2 gangliosidosis: the prototype of lysosomal storage disorders.
Developmental medicine and child neurology 2012;54(2):104-5.
2011: Haifeng Geng; Wei Zheng; Marc Ferrer; Noel Southall; Grace Whiteley; Xin Hu; Jameson Ribbens; Juan J Marugan; Gustavo Maegawa
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.
PloS one 2011;6(12):e29504.
2009: Lorena Travaglini; Francesco Brancati; Tania Attie-Bitach; Sophie Audollent; Enrico Bertini; Josseline Kaplan; Isabelle Perrault; Miriam Iannicelli; Brunella Mancuso; Luciana Rigoli; Jean-Michel Rozet; Dominika Swistun; Jerlyn Tolentino; Bruno Dallapiccola; Joseph G Gleeson; Enza Maria Valente; A Zankl; R Leventer; P Grattan-Smith; A Janecke; M D'Hooghe; Y Sznajer; R Van Coster; L Demerleir; K Dias; C Moco; A Moreira; C Ae Kim; Gustavo Maegawa; D Petkovic; G M H Abdel-Salam; A Abdel-Aleem; M S Zaki; I Marti; S Quijano-Roy; S Sigaudy; P de Lonlay; S Romano; R Touraine; M Koenig; C Lagier-Tourenne; J Messer; P Collignon; N Wolf; H Philippi; Sophia Kitsiou-Tzeli; S Halldorsson; J Johannsdottir; P Ludvigsson; S R Phadke; V Udani; B Stuart; A Magee; D Lev; M Michelson; B Ben-Zeev; R Fischetto; F Benedicenti; F Stanzial; R Borgatti; P Accorsi; S Battaglia; E Fazzi; L Giordano; L Pinelli; L Boccone; S Bigoni; A Ferlini; M A Donati; G Caridi; M T Divizia; F Faravelli; G Ghiggeri; A Pessagno; M Briguglio; S Briuglia; C D Salpietro; G Tortorella; A Adami; P Castorina; F Lalatta; G Marra; D Riva; Barbara Scelsa; L Spaccini; Graziella Uziel; E Del Giudice; A M Laverda; K Ludwig; A Permunian; A Suppiej; S Signorini; C Uggetti; R Battini; M Di Giacomo; M R Cilio; M L Di Sabato; V Leuzzi; P Parisi; M Pollazzon; M Silengo; R De Vescovi; D Greco; Corrado Romano; M Cazzagon; A Simonati; A A Al-Tawari; L Bastaki; A Mégarbané; V Sabolic Avramovska; M M de Jong; P Stromme; R Koul; A Rajab; M Azam; C Barbot; L Martorell Sampol; B Rodriguez; I Pascual-Castroviejo; S Teber; B Anlar; S Comu; E Karaca; H Kayserili; A Yüksel; M Akcakus; L Al Gazali; L Sztriha; D Nicholl; C G Woods; C Bennett; J Hurst; E Sheridan; A Barnicoat; Raoul Hennekam; M Lees; E Blair; S Bernes; H Sanchez; A E Clark; E DeMarco; C Donahue; Elliott H Sherr; J Hahn; T D Sanger; T E Gallager; W B Dobyns; C Daugherty; K S Krishnamoorthy; D Sarco; Christopher Walsh; T McKanna; J Milisa; W K Chung; D C De Vivo; Hillary Raynes; R Schubert; A Seward; D G Brooks; A Goldstein; J Caldwell; E Finsecke; B L Maria; K Holden; R P Cruse; K J Swoboda; D Viskochil
Expanding CEP290 mutational spectrum in ciliopathies.
American journal of medical genetics. Part A 2009;149A(10):2173-80.
2009: Gustavo Maegawa; Brenda L Banwell; Susan Blaser; Geoffrey Sorge; Maggie Toplak; Cameron Ackerley; Cynthia Hawkins; Jason Hayes; Joe T R Clarke
Substrate reduction therapy in juvenile GM2 gangliosidosis.
Molecular genetics and metabolism 2009;98(1-2):215-24.
2009: Gustavo Maegawa; Michael B Tropak; Justin D Buttner; B Rigat; Maria Fuller; Deepangi Pandit; Liangiie Tang; Gregory J Kornhaber; Yoshitomo Hamuro; Joe T R Clarke; Don J Mahuran
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
The Journal of biological chemistry 2009;284(35):23502-16.
2009: Gustavo Maegawa; Paul L M van Giersbergen; Sandra Yang; Brenda L Banwell; Christopher P Morgan; Jasper Dingemanse; Cynthia J Tifft; Joe T R Clarke
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
Molecular genetics and metabolism 2009;97(4):284-91.
2009: M Rohrbach; David Chitayat; Gustavo Maegawa; Sara Shanske; G Davidzon; K Chong; J T R Clarke; Ants Toi; M Tarnopolsky; B Robinson; Susan Blaser
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.
Fetal diagnosis and therapy 2009;25(2):177-82.
2008: mike tropak; Gregory J Kornhaber; B Rigat; Gustavo Maegawa; Justin D Buttner; Jan E Blanchard; Cecilia Murphy; Steven J Tuske; Stephen J Coales; Yoshitomo Hamuro; Eric D Brown; Don J Mahuran
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Chembiochem : a European journal of chemical biology 2008;9(16):2650-62.
2008: Gregory J Kornhaber; mike tropak; Gustavo Maegawa; Steven J Tuske; Stephen J Coales; Don J Mahuran; Yoshitomo Hamuro
Isofagomine induced stabilization of glucocerebrosidase.
Chembiochem : a European journal of chemical biology 2008;9(16):2643-9.
2008: Gustavo Maegawa; Nicola K Poplawski; Brage Storstein Andresen; Simon E Olpin; Gloria Nie; Joe T R Clarke; Ikuko Teshima
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
American journal of medical genetics. Part A 2008;146A(12):1581-6.
2007: Gustavo Maegawa; mike tropak; Justin Buttner; Tracy L Stockley; Fernando Kok; Joe T R Clarke; Don J Mahuran
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
The Journal of biological chemistry 2007;282(12):9150-61.
2006: Gustavo Maegawa; Tracy L Stockley; mike tropak; Brenda L Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don J Mahuran; Joe T R Clarke
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Pediatrics 2006;118(5):e1550-62.
2006: Gustavo Maegawa; David Chitayat; Susan Blaser; Hilary Whyte; Micki Thomas; Peter Kim; Jae Kim; Glen Taylor; Patrick J McNamara
Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
Clinical dysmorphology 2006;15(4):191-6.
2006: W Seifert; M Holder-Espinasse; Stephanie Spranger; Maria Hoeltzenbein; E Rossier; Hélène Dollfus; D Lacombe; Alain Verloes; Krystyna H Chrzanowska; Gustavo Maegawa; D Chitayat; Dieter Kotzot; D Huhle; Peter Meinecke; Beate Albrecht; I Mathijssen; Bruno Leheup; K Raile; Hans Christian Hennies; Denise Horn
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Journal of medical genetics 2006;43(5):e22.
2005: Júlio César Loguercio Leite; Renata Faermann; Nina Rodrigues Stein; Denise Zandoná; Gustavo Maegawa
Focal dermal hypoplasia associated with split sternum--Goltz syndrome.
Clinical dysmorphology 2005;14(1):37-9.
2004: Gustavo Maegawa; Júlio César L Leite; Têmis Maria Félix; Heraldo Luís Dias da Silveira; Heloísa Emília da Silveira
Clinical variability in KBG syndrome: report of three unrelated families.
American journal of medical genetics. Part A 2004;131(2):150-4.
2004: Eduardo S Ghisolfi; Gustavo Maegawa; Jefferson Becker; Ana Paula Zanardo; Ivo M Strimitzer; Alexandre S Prokopiuk; Maria Luiza S Pereira; Tiago Santos Carvalho; Laura B Jardim; Diogo R Lara
Impaired P50 sensory gating in Machado-Joseph disease.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2004;115(10):2231-5.
2003: Rosa Andrea Pardo Vargas; Gustavo Maegawa; Silvia Castillo Taucher; Júlio César L Leite; Patricia Sanz; Juan Cifuentes; Mauro Parra; Hernán Muñoz; Carlos Magno Maranduba; Maria R Passos-Bueno
Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
American journal of medical genetics. Part A 2003;121A(1):41-6.
2001: Lineu César Werneck; Rosana Herminia Scola; Gustavo Maegawa; M C Werneck
Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients.
American journal of medical genetics 2001;103(2):115-20.
1999: Rosana Herminia Scola; Lineu César Werneck; Fábio M Iwamoto; Gustavo Maegawa; LN Faoro; F H Caldeira
[True neurogenic outlet syndrome: report of 2 cases].
Arquivos de neuro-psiquiatria 1999;57(3A):659-65.
1998: Rosana Herminia Scola; Lineu César Werneck; Fábio M Iwamoto; Norberto L Cabral; Gustavo Maegawa; Enio Rogacheski
[Ossification of the posterior longitudinal ligament in the cervical spine: case report].
Arquivos de neuro-psiquiatria 1998;56(3A):480-5.