Johann Böhm

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

Johann Böhm, Frédéric Chevessier, Catherine Koch et al. · The American Journal of Human Genetics · 2013 · 213 citations · Full text

Medicine, Biophysics, Neurology +12

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 · 137 citations · Full text

Medicine, Genetics, Neurology +17

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

<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 · 116 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 107 citations · Full text

Medicine, Genetics, Molecular Genetics +13