List of works - Gustavo Maegawa

A high-throughput screening assay using Krabbe disease patient cells

scientific article

Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo

scientific article published on 06 May 2021

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease

scientific article published on 21 September 2013

Clinical neurogenetics: neuropathic lysosomal storage disorders

scientific article

Clinical variability in KBG syndrome: report of three unrelated families.

scientific article published in December 2004

Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients

scientific article published on 01 October 2001

Developing therapeutic approaches for metachromatic leukodystrophy

scientific article

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

scientific article published on October 2006

Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease

scientific article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Focal dermal hypoplasia associated with split sternum--Goltz syndrome

scientific article published on 01 January 2005

GM2 gangliosidosis: the prototype of lysosomal storage disorders

scientific article published on 01 February 2012

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

scientific article

Impaired P50 sensory gating in Machado-Joseph disease

scientific article published on 01 October 2004

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

scientific article

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence

scientific article published on 25 March 2009

Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum

scientific article published on 31 December 2013

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

scientific article published in May 2006

Novel parkin mutations detected in patients with early-onset Parkinson's disease

scientific article

Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease

scientific article

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency

scientific article published on 10 October 2012

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

scientific article

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

scientific article

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

scientific journal article

Substrate reduction therapy in juvenile GM2 gangliosidosis

scientific article

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

scientific article

List of works by Gustavo Maegawa

A high-throughput screening assay using Krabbe disease patient cells

Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease

Clinical neurogenetics: neuropathic lysosomal storage disorders

Clinical variability in KBG syndrome: report of three unrelated families.

Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients

Developing therapeutic approaches for metachromatic leukodystrophy

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease

Expanding CEP290 mutational spectrum in ciliopathies

Focal dermal hypoplasia associated with split sternum--Goltz syndrome

GM2 gangliosidosis: the prototype of lysosomal storage disorders

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease

Impaired P50 sensory gating in Machado-Joseph disease

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence

Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Novel parkin mutations detected in patients with early-onset Parkinson's disease

Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease

Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Substrate reduction therapy in juvenile GM2 gangliosidosis

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.