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Publications by Kaori Irahara-Miyana

Exonic Deletions in GALC Are Frequent in Japanese Globoid-Cell Leukodystrophy Patients

Human Genome Variation

Molecular Biology

English

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Altered Trafficking and Processing of GALC Mutants Correlates With Globoid Cell Leukodystrophy Severity

Journal of Neuroscience

English

Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy

Journal of Neuroscience

English

Evolving Perspective of the Pathogenesis of Globoid Cell Leukodystrophy (Krabbe Disease).

Proceedings of the Japan Academy Series B: Physical and Biological Sciences

Multidisciplinary

Biological Sciences

English

Multipotent Stromal Cells Alleviate Inflammation, Neuropathology, and Symptoms Associated With Globoid Cell Leukodystrophy in the Twitcher Mouse

Molecular Medicine

Developmental Biology

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Molecular Beacon Genotyping for Globoid Cell Leukodystrophy From Hair Roots in the Twitcher Mouse and Rhesus Macaque

Journal of Neuroscience Methods

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Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones

Journal of Neuroscience

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Spontaneous Mutations in Maize Pollen Are Frequent in Some Lines and Arise Mainly From Retrotranspositions and Deletions

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Risk Factors for Frequent Asthma Exacerbation in Japanese Patients With Refractory Asthma

The Showa University Journal of Medical Sciences

English

Molecular Bases of Metachromatic Leukodystrophy in Polish Patients

Journal of Human Genetics

English