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Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 7, p. 993, doi. 10.3390/cells12070993
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- Publication type:
- Article
Impact of Mitochondrial A3243G Heteroplasmy on Mitochondrial Bioenergetics and Dynamics of Directly Reprogrammed MELAS Neurons.
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- Cells (2073-4409), 2023, v. 12, n. 1, p. 15, doi. 10.3390/cells12010015
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- Publication type:
- Article
Impairment of Proteasome and Autophagy Underlying the Pathogenesis of Leukodystrophy.
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- Cells (2073-4409), 2020, v. 9, n. 5, p. 1124, doi. 10.3390/cells9051124
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- Article
Zebrafish Carrying pycr1 Gene Deficiency Display Aging and Multiple Behavioral Abnormalities.
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- Cells (2073-4409), 2019, v. 8, n. 5, p. 453, doi. 10.3390/cells8050453
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- Publication type:
- Article
Oxidative Insults and Mitochondrial DNA Mutation Promote Enhanced Autophagy and Mitophagy Compromising Cell Viability in Pluripotent Cell Model of Mitochondrial Disease.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 1, p. 65, doi. 10.3390/cells8010065
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- Publication type:
- Article
Pathogenesis and Preventive Tactics of Immune-Mediated Non-Pulmonary COVID-19 in Children and Beyond.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14157, doi. 10.3390/ijms232214157
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- Article
Polysomnographic characteristics in patients with mucopolysaccharidoses.
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- Pediatric Pulmonology, 2010, v. 45, n. 12, p. 1205, doi. 10.1002/ppul.21309
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- Publication type:
- Article
Towards a reference genome that captures global genetic diversity.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-19311-w
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- Article
Erratum to: Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan.
- Published in:
- 2013
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- Publication type:
- Correction notice
Vital Signs Sensing Gown Employing ECG-Based Intelligent Algorithms.
- Published in:
- Biosensors (2079-6374), 2022, v. 12, n. 11, p. 964, doi. 10.3390/bios12110964
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- Publication type:
- Article
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3095, doi. 10.1002/ajmg.a.34326
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- Publication type:
- Article
A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1285, doi. 10.1002/ajmg.a.33963
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- Publication type:
- Article
Enzyme replacement therapy for mucopolysaccharidosis VI—experience in Taiwan.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 421, doi. 10.1007/s10545-010-9212-5
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- Publication type:
- Article
Sigmoid adhesion caused by a congenital mesocolic band.
- Published in:
- 1999
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- Publication type:
- journal article
Low-frequency enzyme replacement therapy in late-onset pompe disease.
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- Muscle & Nerve, 2013, v. 47, n. 4, p. 612, doi. 10.1002/mus.23658
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- Publication type:
- Article