Yoshihiko Saito

16PUBLICATIONS
117CO-AUTHORS
Neurology and neuromuscular diseasesMedical virologyEpigenetics (incl. genome methylation and epigenomics)Contaminant hydrologyGene mapping
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Publications (16)

|Feb 12, 2026
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Aug 26, 2025
Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing.

Yoshihiko Saito, Ichizo Nishino

|Jul 18, 2025
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Marianela Schiava, Yolande Parkhurst, Matthew Henderson

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|Feb 07, 2025
Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis.

Shunsuke Funaguma, Aritoshi Iida, Yoshihiko Saito

|Nov 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Lein N H Dofash, Lee B Miles, Yoshihiko Saito

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Frequent Collaborators

12 joint publications

Ichizo Nishino

2 joint publications

Marco Savarese

2 joint publications

Francesca Clementina Radio

2 joint publications

Erik-Jan Kamsteeg