Jun Tohyama

5PUBLICATIONS
13CO-AUTHORS
NeurogeneticsCardiology (incl. cardiovascular diseases)NeonatologyNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
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Publications (5)

|Aug 27, 2026
Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

|Dec 03, 2024
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.

Moemi Hojo, Noriko Soma, Kei Yamada

|Feb 21, 2024
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.

Hiromi Nyuzuki, Junichi Ozawa, Keisuke Nagasaki

|Mar 22, 2023
Clinical and electroencephalographic findings prior to the onset of juvenile myoclonic epilepsy: A case series.

Akiko Hiraiwa, Yu Kobayashi, Moemi Hojo

|Apr 21, 2022
Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy.

Takao Komatsubara, Yu Kobayashi, Akiko Hiraiwa

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Frequent Collaborators

3 joint publications

Hiromi Nyuzuki

3 joint publications

Takeshi Ikeuchi

1 joint publications

Keisuke Nagasaki

1 joint publications

Natsuki Nakamura