Atsushi Yokoyama
Kyoto, 6068507, Japan
Last Updated: 09/26/2026
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Found 18 publications
Aberrant lysosomal dynamics disrupt myogenesis via mTORC1 signalling in X-linked myotubular myopathy.
Journal: Brain : a journal of neurology
Published: February 11, 2025
Atrioventricular Block in a Pompe Disease Patient Receiving Enzyme Replacement Therapy.
Journal: JACC. Case reports
Published: January 15, 2025
Prolonged Febrile Seizure and Long-Term Neurological Sequelae in Otherwise Healthy Children.
Journal: Annals of neurology
Published: September 04, 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
Juvenile xanthogranuloma manifesting with LCH-associated neurodegenerative disease-like radiological findings.
Journal: Pediatric blood & cancer
Published: February 19, 2024
Specific consistency score for rational selection of epilepsy resection surgery candidates.
Journal: Epilepsia
Published: December 08, 2023
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
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.
Journal: Pediatric transplantation
Published: June 06, 2023
Successful sequential therapy with rituximab and daratumumab for refractory posttransplant immune thrombocytopenic purpura.
Journal: Pediatric blood & cancer
Published: April 27, 2023
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.
Journal: Human molecular genetics
Published: November 26, 2022
Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).
Journal: Molecular genetics & genomic medicine
Published: December 20, 2021
Pediatric abdominal arterial intervention using a steerable microcatheter through an introducer with 4-F outer diameter: report of two cases.
Journal: Radiology case reports
Published: July 23, 2021
Last Updated: 09/26/2026