Kengo Kora
Kyoto, Japan
Last Updated: 09/26/2026
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Found 11 publications
Progressive Weakness and Hypoglycemia in a Child With Selective Eating: A Nutritional Mimic of a Fatty Acid Oxidation Disorder.
Journal: Journal of child neurology
Published: July 24, 2026
Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.
Journal: Journal of human genetics
Published: April 04, 2026
MicroRNA-33 inhibition ameliorates muscular dystrophy by enhancing skeletal muscle regeneration.
Journal: EMBO molecular medicine
Published: February 27, 2025
Aberrant lysosomal dynamics disrupt myogenesis via mTORC1 signalling in X-linked myotubular myopathy.
Journal: Brain : a journal of neurology
Published: February 11, 2025
A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8.
Journal: Human genome variation
Published: August 14, 2024
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome.
Journal: Journal of medical genetics
Published: April 18, 2024
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.
Journal: Neurology. Genetics
Published: November 29, 2023
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.
Journal: Human molecular genetics
Published: November 26, 2022
Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system.
Journal: Brain & development
Published: February 11, 2021
Ketogenic Diet Therapy for Intractable Epilepsy in Infantile Alexander Disease: A Small Case Series and Analyses of Astroglial Chemokines and Proinflammatory Cytokines.
Journal: Epilepsy research
Published: July 28, 2020
Inflammatory neuropathology of infantile Alexander disease: A case report.
Journal: Brain & development
Published: May 19, 2019
Showing 1-11 of 11
Last Updated: 09/26/2026