Johann Böhm

Associate professor

Institut de Génétique et de Biologie Moléculaire et Cellulaire

France

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Johann Böhm is an Associate Professor at the Institut de Génétique et de Biologie Moléculaire et Cellulaire in France. His research focuses on muscular disorders, particularly centronuclear myopathy and Stormorken syndrome, with recent articles exploring the roles of various Ca2+ channels and genetic mutations. His work includes studies on exon skipping morpholinos, the impact of STIM1 mutations, and the development of animal models for these myopathies.

Articles (10)

Year:

2025

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2025

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2025

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2024

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2024

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2022

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2022

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2022

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2021

Year:

2020

Collaborators (7)

Cristina Dominguez

SPAIN

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Marco Savarese

University of Helsinki

FINLAND

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Coralie Spiegelhalter

Institut de Génétique et de Biologie Moléculaire et Cellulaire

FRANCE

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Mridul Johari

University of Helsinki

FINLAND

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Jocelyn Laporte

University of Strasbourg

FRANCE

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Stéphane Blot

FRANCE

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Laurent Tiret

Professor in comparative physiology and pharmacology

FRANCE

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Johann Böhm

Research Interests

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Articles (10)

Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy

STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome

A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice

Mutation update for the ACTN2 gene

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice

A dog model for centronuclear myopathy carrying the most common DNM2 mutation

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

Collaborators (7)

Cristina Dominguez

Marco Savarese

Coralie Spiegelhalter

Mridul Johari

Jocelyn Laporte

Stéphane Blot

Laurent Tiret

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