Johann Böhm

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Johann Böhm, Frédéric Chevessier, A. Maues de Paula et al. · The American Journal of Human Genetics · 2013 · 208 citations · Full text

Mechanobiology, Engineering, Constitutive Activation +3

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 132 citations · Full text

Congenital Myopathy, Mendelian Disorder, Degenerative Disease +1

<i>MTM1</i> mutation associated with X-linked myotubular myopathy in Labrador Retrievers

Alan H. Beggs, Johann Böhm, Elizabeth Snead et al. · Proceedings of the National Academy of Sciences · 2010 · 115 citations · Full text

A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

Edoardo Malfatti, Johann Böhm, Emmanuelle Lacène et al. · Journal of Neuromuscular Diseases · 2015 · 100 citations · Full text