Johann Böhm

5PUBLICATIONS
2CO-AUTHORS
Energy generation, conversion and storage (excl. chemical and electrical)Neurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)Molecular targetsStructural properties of condensed matter
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Publications (5)

|Sep 18, 2022
Mutation update for the ACTN2 gene.

Johanna Ranta-Aho, Montse Olive, Marie Vandroux

|Sep 18, 2021
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Valérie Biancalana, John Rendu, Annabelle Chaussenot

|Aug 29, 2019
Clinical, histological, and genetic characterization of PYROXD1-related myopathy.

Xavière Lornage, Vanessa Schartner, Inès Balbueno

|Feb 01, 2019
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Xavière Lornage, Norma B Romero, Claire A Grosgogeat

|Oct 18, 2017
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Johann Böhm, Xavière Lornage, Frederic Chevessier

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Frequent Collaborators

1 joint publications

Johann Böhm

1 joint publications

Marco Savarese