Johann Böhm

16PUBLICATIONS
38CO-AUTHORS
Medical mycologyMedical molecular engineering of nucleic acids and proteinsStructure and dynamics of materialsMolecular medicineCarbon capture engineering (excl. sequestration)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (16)

|Jul 03, 2026
Circulating MYOM3 fragments reflect disease severity and therapeutic efficacy in tubular aggregate myopathy and Stormorken syndrome.

|Mar 03, 2026
A muscular dystrophy associated with bi-allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies.

Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou

|Dec 07, 2025
STIM1 Reduction Prevents Tubular Aggregate Formation and Compromises Muscle Performance in Ageing Mice.

Laura Pérez-Guàrdia, Roberto Silva-Rojas, Jocelyn Laporte

|Jul 03, 2025
Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy.

Foteini Moschovaki-Filippidou, Juliana de Carvalho Neves, Nadège Diedhiou

|Mar 24, 2025
STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome.

Emma Lafabrie, Maja Vrdoljak Pažur, Jocelyn Laporte

|Nov 27, 2024
A Gain-of-Function Mutation in the Ca<sup>2+</sup> Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice.

Laura Pérez-Guàrdia, Emma Lafabrie, Nadège Diedhiou

Pageof 3

Frequent Collaborators

9 joint publications

Jocelyn Laporte

4 joint publications

Roberto Silva-Rojas

2 joint publications

A Reghan Foley

2 joint publications

Carsten G Bönnemann