Johann Böhm

18PUBLICATIONS
64CO-AUTHORS
Neurology and neuromuscular diseasesMedical mycologyMedical molecular engineering of nucleic acids and proteinsStructure and dynamics of materialsMolecular medicine
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Publications (18)

|Aug 27, 2026
Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.

|Aug 18, 2026
Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

|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

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Frequent Collaborators

10 joint publications

Jocelyn Laporte

4 joint publications

Roberto Silva-Rojas

2 joint publications

A Reghan Foley

2 joint publications

Carsten G Bönnemann