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Takeshi Yoshida

Kyoto University

45

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632

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Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.

2021 American Journal of Medical Genetics Part A
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Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system.

2021 Brain & Development
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Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series

2021
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Acute flaccid myelitis with neuroradiological finding of brachial plexus swelling

2020 Pediatric Neurology
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Gait improvements by assisting hip movements with the robot in children with cerebral palsy: a pilot randomized controlled trial.

2020 Journal of Neuroengineering and Rehabilitation
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Adverse events caused by the discontinuation of anti-resorptive agents during treatment for anti-resorptive agent-related osteonecrosis of the jaw: A single-center cohort study

2020 Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology
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A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells

2019 Frontiers in Cell and Developmental Biology
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De novo NSF mutations cause early infantile epileptic encephalopathy

2019 Annals of clinical and translational neurology
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Somatic mosaic deletions involving SCN1A cause Dravet syndrome

2018 American Journal of Medical Genetics Part A
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Enzyme Replacement Therapy Provides Effective, Long-Term Treatment of Cardiomyopathy in Pompe Disease

2018 Circulation
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