Azithromycin, a 15-membered macrolide antibiotic, inhibits influenza A(H1N1)pdm09 virus infection by interfering with virus internalization process

Dat Huu Tran, Ryuichi Sugamata, Tomoyasu Hirose, +12

The Journal of Antibiotics

15-Membered MacrolideVirus InfectionImmunologyAntiviral TherapyVirology +8

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben‐Zeev, +19

European Journal of Human Genetics

Epileptic EncephalopathyGnao1 VariantsNeurological DisorderGeneticsPhenotypic Spectrum +7

Kernicterus in Preterm Infants

Akihisa Okumura, Hiroyuki Kidokoro, Hiromichi Shoji, +5

PEDIATRICS

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

Luke E. Formosa, Masakazu Mimaki, Ann E. Frazier, +5

Human Molecular Genetics

Respiratory Chain ComplexTranscriptional RegulationMitochondrial BiogenesisMitochondrial FunctionMitochondrial Dynamic +13

Next-generation sequencing in molecular diagnosis: <i>NUBPL</i> mutations highlight the challenges of variant detection and interpretation

Elena J. Tucker, Masakazu Mimaki, Alison G. Compton, +3

Human Mutation

Molecular DiagnosisEngineeringMitochondrial DysfunctionGeneticsPathology +18

Reversible infantile respiratory chain deficiency: A clinical and molecular study

Masakazu Mimaki, Hideyuki Hatakeyama, Hirofumi Komaki, +7

Annals of Neurology

Biallelic variants in <i>LIG3</i> cause a novel mitochondrial neurogastrointestinal encephalomyopathy

Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, +64

Brain

Prevalence and associated factors of suicidality in Japanese adolescents: results from a population-based questionnaire survey

Shinichiro Nagamitsu, Masakazu Mimaki, Kenshi Koyanagi, +9

BMC Pediatrics

Cyclic Vomiting Syndrome in Infants and Children: A Clinical Follow-Up Study

Toshiyuki Hikita, Hiroko Kodama, Kaori Ogita, +3

Pediatric Neurology

Cyclic Vomiting SyndromePediatricsClinical Follow-up

A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy

Masakazu Mimaki, Akemi Ikota, Aya Sato, +4

Journal of Human Genetics

BiologyMendelian DisorderMitochondrial FunctionGenetic DisorderNatural Sciences +9