Josine M de Winter

4PUBLICATIONS
57CO-AUTHORS
Neurology and neuromuscular diseasesGene and molecular therapy
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Publications (4)

|Jun 24, 2026
Kbtbd13 knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6.

|Apr 03, 2024
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi

|Feb 20, 2024
Tirasemtiv enhances submaximal muscle tension in an Acta1:p.Asp286Gly mouse model of nemaline myopathy.

Ricardo A Galli, Tamara C Borsboom, Charlotte Gineste

|Nov 06, 2022
KBTBD13 is a novel cardiomyopathy gene.

Josine M de Winter, Karlijn Bouman, Joshua Strom

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Frequent Collaborators

3 joint publications

Coen A C Ottenheijm

2 joint publications

Ricardo A Galli

2 joint publications

Stefan Conijn

2 joint publications

Fady I Malik