Takashi Matsukawa

9PUBLICATIONS
47CO-AUTHORS
NeurogeneticsMedical virologyVisual arts not elsewhere classifiedGene expression (incl. microarray and other genome-wide approaches)Liquid biopsies
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Publications (9)

|Sep 25, 2026
LRP12 CGG Repeat Expansions in Patients With Adult-Onset Non-5q Spinal Muscular Atrophy.

|Nov 20, 2025
A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.

Hiroya Naruse, Jun Mitsui, Akatsuki Kubota

|Oct 27, 2025
Erratum: Vanishing White Matter Disease With EIF2B2 c.254T>A Variant: Mild Clinical and MRI Findings.

Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura

|Sep 03, 2025
Vanishing White Matter Disease With EIF2B2 c.254 >A Variant: Mild Clinical and MRI Findings.

Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura

|Jul 17, 2024
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome.

Kenta Orimo, Jun Mitsui, Takashi Matsukawa

|Feb 05, 2024
SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.

Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki

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Frequent Collaborators

6 joint publications

Hiroyuki Ishiura

6 joint publications

Shoji Tsuji

4 joint publications

Jun Mitsui

4 joint publications

Tatsushi Toda