Yosuke Nishio

9PUBLICATIONS
76CO-AUTHORS
NeurogeneticsGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Genome structure and regulation
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Publications (9)

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

|Apr 14, 2026
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.

Toshihiko Iwaki, Yosuke Nishio, Sachiyo Takagi

|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador

|Dec 29, 2025
Gerstmann-Sträussler-Scheinker disease mimicking primary progressive multiple sclerosis: A case with positive oligoclonal bands.

Miwa Ito, Hiroki Masuda, Marie Morooka

|Jul 02, 2025
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Kohji Kato, Yosuke Nishio, Kirsty J McMillan

|May 28, 2025
De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complications.

Yuri Moriura, Yosuke Nishio, Shintaro Ichimura

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Frequent Collaborators

6 joint publications

Tomoo Ogi

6 joint publications

Shinji Saitoh

2 joint publications

Shiomi Otsuji

2 joint publications

Yuka Nakazawa