Johann Böhm
0000-0001-8019-9504
Publication & Citation Trends
Publications
155 total
STIM1 in-frame deletion of eight amino acids in a patient with moderate tubular aggregate myopathy/Stormorken syndrome
Cited by 3
Semantic Scholar
Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy
Cited by 2
Semantic Scholar
STIM1 Reduction Prevents Tubular Aggregate Formation and Compromises Muscle Performance in Ageing Mice
Cited by 0
Semantic Scholar
A Gain-of-Function Mutation in the Ca2+ Channel ORAI1 Causes Stormorken Syndrome with Tubular Aggregates in Mice OA
Cited by 4
Semantic Scholar
ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome OA
Cited by 6
Semantic Scholar
Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era OA
Cited by 2
Semantic Scholar
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations OA
Cited by 9
Semantic Scholar
DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy OA
Cited by 8
Semantic Scholar
Research Topics
Cardiomyopathy and Myosin Studies
(53)
Muscle Physiology and Disorders
(52)
Cellular transport and secretion
(24)
Ion channel regulation and function
(23)
Nuclear Structure and Function
(22)
Affiliations
Centre National de la Recherche Scientifique
St Thomas' Hospital
Radboud University Nijmegen
Inserm
University of Freiburg