Author

Johann Böhm

Centre National de la Recherche ScientifiqueORCID 0000-0001-8019-9504Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 2

Frequent Co-Authors

Jocelyn LaporteiD· 2 shared Adnan Yousaf Manzur· 1 shared Aileen Reghan FoleyiD· 1 shared Aki Sato· 1 shared Alice Flynn Ford· 1 shared Alice KusteriD· 1 shared Ana TöpfiD· 1 shared Andrea KleiniD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Jocelyn LaporteORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort, Lin E. Guo, Kevin O’Donovan, Maura Coughlin, Xavière Lornage, Nicola C. Foulds, Simon R. Hammans, Aileen Reghan Foley, Charlotte M. Fare, Alice Flynn Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, , J. Paul Taylor

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

Nature Communications · Apr 28, 2022Peer-reviewedGenetic & Genomic Medicine

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

Georges Arielle Pêche, Coralie Spiegelhalter, Roberto Silva‐Rojas, Jocelyn Laporte, Johann Böhm

The paper shows that TAM and STRMK mutations in STIM1 cause similar functional defects leading to excessive Ca2+ entry and shared pathomechanisms.

Neuropathology · Oct 19, 2020Peer-reviewedMolecular Biology