| Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy J Böhm, F Chevessier, AM De Paula, C Koch, S Attarian, C Feger, ... The American Journal of Human Genetics 92 (2), 271-278, 2013 | 201 | 2013 |
| ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia AU Mannan, P Krawen, SM Sauter, J Boehm, A Chronowska, W Paulus, ... The American Journal of Human Genetics 79 (2), 351-357, 2006 | 180 | 2006 |
| Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy J Böhm, V Biancalana, ET DeChene, M Bitoun, CR Pierson, E Schaefer, ... Human mutation 33 (6), 949-959, 2012 | 138 | 2012 |
| MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers AH Beggs, J Böhm, E Snead, M Kozlowski, M Maurer, K Minor, ... Proceedings of the National Academy of Sciences 107 (33), 14697-14702, 2010 | 138 | 2010 |
| Next generation sequencing for molecular diagnosis of neuromuscular diseases N Vasli, J Böhm, S Le Gras, J Muller, C Pizot, B Jost, A Echaniz-Laguna, ... Acta neuropathologica 124, 273-283, 2012 | 107 | 2012 |
| Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy V Schartner, NB Romero, S Donkervoort, S Treves, P Munot, TM Pierson, ... Acta neuropathologica 133, 517-533, 2017 | 106 | 2017 |
| SALL4 is directly activated by TCF/LEF in the canonical Wnt signaling pathway J Böhm, C Sustmann, C Wilhelm, J Kohlhase Biochemical and biophysical research communications 348 (3), 898-907, 2006 | 102 | 2006 |
| PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION KG Claeys, T Maisonobe, J Bohm, J Laporte, M Hezode, NB Romero, ... Neurology 74 (6), 519-521, 2010 | 91 | 2010 |
| ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy J Böhm, M Bulla, JE Urquhart, E Malfatti, SG Williams, J O'Sullivan, ... Human mutation 38 (4), 426-438, 2017 | 89 | 2017 |
| Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 J Böhm, F Chevessier, C Koch, GA Peche, M Mora, L Morandi, B Pasanisi, ... Journal of medical genetics 51 (12), 824-833, 2014 | 87 | 2014 |
| A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy E Malfatti, J Böhm, E Lacène, M Beuvin, G Brochier, NB Romero, ... Journal of Neuromuscular Diseases 2 (3), 219-227, 2015 | 86 | 2015 |
| Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations J Böhm, V Biancalana, E Malfatti, N Dondaine, C Koch, N Vasli, W Kress, ... Brain 137 (12), 3160-3170, 2014 | 85 | 2014 |
| Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype E Malfatti, VL Lehtokari, J Böhm, JM De Winter, U Schäffer, B Estournet, ... Acta neuropathologica communications 2, 1-14, 2014 | 79 | 2014 |
| Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy J Böhm, N Vasli, M Maurer, B Cowling, GD Shelton, W Kress, A Toussaint, ... PLoS genetics 9 (6), e1003430, 2013 | 74 | 2013 |
| Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein AU Mannan, J Boehm, SM Sauter, A Rauber, PC Byrne, J Neesen, ... Neurogenetics 7, 93-103, 2006 | 72 | 2006 |
| Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation J Böhm, U Yiş, R Ortaç, H Çakmakçı, SH Kurul, E Dirik, J Laporte Orphanet journal of rare diseases 5, 1-6, 2010 | 70 | 2010 |
| Sall1, sall2, and sall4 are required for neural tube closure in mice J Böhm, A Buck, W Borozdin, AU Mannan, U Matysiak-Scholze, I Adham, ... The American journal of pathology 173 (5), 1455-1463, 2008 | 70 | 2008 |
| Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome J Böhm, J Laporte Cell calcium 76, 1-9, 2018 | 68 | 2018 |
| Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome OS Koutsopoulos, C Kretz, CM Weller, A Roux, H Mojzisova, J Böhm, ... European Journal of Human Genetics 21 (6), 637-642, 2013 | 63 | 2013 |
| An integrated diagnosis strategy for congenital myopathies J Böhm, N Vasli, E Malfatti, S Le Gras, C Feger, B Jost, N Monnier, ... PLoS One 8 (6), e67527, 2013 | 60 | 2013 |
