Johann Böhm

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 10

Top Venues

Annals of neurology

Human mutation

Neurogenetics

Neuropathology and applied neurobiology

Institut de Génétique et de Biologie Moléculaire et Cellulaire

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Institut de Génétique et de Biologie Moléculaire et Cellulaire Oct 01 2014

France

Associate professor

Publications

Laura Vanden Brande, Stéphanie Bauché, Laura Pérez-Guàrdia, Damien Sternberg, Andreea M Seferian, Edoardo Malfatti, Roberto Silva-Rojas, Clémence Labasse, Frédéric Chevessier, Pierre Carlier, Bruno Eymard, Norma B Romero, Jocelyn Laporte, Laurent Servais, Teresa Gidaro, Johann Böhm
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation. Neuropathology and applied neurobiology (2023)
Roberto Silva-Rojas, Laura Pérez-Guàrdia, Emma Lafabrie, David Moulaert, Jocelyn Laporte, Johann Böhm
Silencing of the Ca 2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice. International journal of molecular sciences 23 (13) (2022)
Johann Böhm, Inès Barthélémy, Charlène Landwerlin, Nicolas Blanchard-Gutton, Frederic Relaix, Stéphane Blot, Jocelyn Laporte, Laurent Tiret
A dog model for centronuclear myopathy carrying the most common DNM2 mutation. Disease models & mechanisms 15 (4) (2022)
Johanna Ranta-Aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese
Mutation update for the ACTN2 gene. Human mutation (2022)
Stacha F I Reumers, Frederik Braun, Jennifer L Spillane, Johann Böhm, Maartje Pennings, Meyke Schouten, Anneke J van der Kooi, A Reghan Foley, Carsten G Bonnemann, Erik-Jan Kamsteeg, Corrie E Erasmus, Ulrike Schara-Schmidt, Heinz Jungbluth, Nicol C Voermans
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study. Neurology 97 (5) (2021)
Xavière Lornage, Martial Mallaret, Roberto Silva-Rojas, Valérie Biancalana, Diane Giovannini, Klaus Dieterich, Safaa Saker, Jean François Deleuze, Bernard Wuyam, Jocelyn Laporte, Johann Böhm
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy. Neurogenetics 22 (1) (2021)
Georges Arielle Peche, Coralie Spiegelhalter, Roberto Silva-Rojas, Jocelyn Laporte, Johann Böhm
Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome. Neuropathology : official journal of the Japanese Society of Neuropathology 40 (6) (2020)
A Reghan Foley, Yaqun Zou, James E Dunford, Jachinta Rooney, Goutam Chandra, Hui Xiong, Volker Straub, Thomas Voit, Norma Romero, Sandra Donkervoort, Ying Hu, Thomas Markello, Adam Horn, Leila Qebibo, Jahannaz Dastgir, Katherine G Meilleur, Richard S Finkel, Yanbin Fan, Kamel Mamchaoui, Stephanie Duguez, Isabelle Nelson, Jocelyn Laporte, Mariarita Santi, Edoardo Malfatti, Thierry Maisonobe, Philippe Touraine, Michio Hirano, Imelda Hughes, Kate Bushby, Udo Oppermann, Johann Böhm, Jyoti K Jaiswal, Tanya Stojkovic, Carsten G Bonnemann
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Annals of neurology 88 (2) (2020)
Andoni Echaniz-Laguna, Xavière Lornage, Pascal Laforêt, Mette C Orngreen, Evelina Edelweiss, Guy Brochier, Mai T Bui, Roberto Silva-Rojas, Catherine Birck, Béatrice Lannes, Norma B Romero, John Vissing, Jocelyn Laporte, Johann Böhm
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. Annals of neurology 88 (2) (2020)
Gilles Morin, Valérie Biancalana, Andoni Echaniz-Laguna, Jean-Baptiste Noury, Xavière Lornage, Maurizio Moggio, Michela Ripolone, Raffaella Violano, Pascale Marcorelles, Denis Maréchal, Florence Renaud, Claude-Alain Maurage, Céline Tard, Jean-Marie Cuisset, Jocelyn Laporte, Johann Böhm
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation. Human mutation 41 (1) (2019)

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Publication Activity (10 Years)

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Johann Böhm