Johann Böhm - Concepedia

Author

Johann Böhm

Inserm ORCID

Also Known As

Bohm, Johann, Böhm, Johann, J Böhm, J. Bohm, J. Böhm, J. Böhm, Jakubov, Johann Bohm, Johann Böhm, Jonas M. Böhm

158

Publications

3.2K

Citations

H-Index

Concepts

All Affiliations

Inserm Université de Strasbourg Institut de génétique et de biologie moléculaire et cellulaire Centre National de la Recherche Scientifique Institut de Myologie

About

Johann Böhm is an author at Inserm specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	22	25	1.2K
2	Engineering	3	3	278
3	Health Sciences	2	2	79
4	Social Sciences	1	1	64
5	Biomedical Engineering	1	1	208

Johann Böhm

Publications

2.7K

Citations

H-Index

Page 1

	Year	Citations
Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy Johann Böhm, Frédéric Chevessier, A. Maues de Paula, The American Journal of Human Genetics MechanobiologyEngineeringConstitutive ActivationPhysiologyCytoskeleton	2013	208
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Human Mutation Peripheral NeuropathyMendelian DisorderAutoimmune DiseaseSkeletal MuscleGenetic Disorder	2012	135
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Vanessa Schartner, Norma B. Romero, Sandra Donkervoort, Acta Neuropathologica Congenital MyopathyMendelian DisorderDegenerative DiseaseGenetic Disorder	2016	132
<i>MTM1</i> mutation associated with X-linked myotubular myopathy in Labrador Retrievers Alan H. Beggs, Johann Böhm, Elizabeth Snead, Proceedings of the National Academy of Sciences	2010	115
A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy Edoardo Malfatti, Johann Böhm, Emmanuelle Lacène, Journal of Neuromuscular Diseases	2015	100
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations Johann Böhm, Valérie Biancalana, Edoardo Malfatti, Brain Mitochondrial MyopathyChromatinDevelopmental AnomalyMendelian DisorderGenetic Disorder	2014	99
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy Johann Böhm, Monica Bulla, Jill Urquhart, Human Mutation	2017	97
Next generation sequencing for molecular diagnosis of neuromuscular diseases Nasim Vasli, Johann Böhm, Stéphanie Le Gras, Acta Neuropathologica	2012	93
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 Johann Böhm, Frédéric Chevessier, Catherine Koch, Journal of Medical Genetics	2014	92
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype Edoardo Malfatti, Vilma‐Lotta Lehtokari, Johann Böhm, Acta Neuropathologica Communications	2014	91

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