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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 2
2007 1
2008 3
2009 1
2010 3
2011 1
2012 6
2013 4
2014 4
2015 1
2016 6
2017 11
2018 7
2019 10
2020 10
2021 5
2022 6
2023 4
2024 2

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76 results

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Page 1
[PYROXD1-related myopathy].
Lornage X, Romero NB, Laporte J, Böhm J. Lornage X, et al. Among authors: bohm j. Med Sci (Paris). 2019 Nov;35 Hors série n° 2:43-44. doi: 10.1051/medsci/2019183. Epub 2019 Dec 20. Med Sci (Paris). 2019. PMID: 31859631 Free article. Review. French.
Mutation update for the ACTN2 gene.
Ranta-Aho J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Böhm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: bohm j. Hum Mutat. 2022 Dec;43(12):1745-1756. doi: 10.1002/humu.24470. Epub 2022 Sep 27. Hum Mutat. 2022. PMID: 36116040 Free PMC article. Review.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: bohm j. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Wnt5a Promotes Lysosomal Cholesterol Egress and Protects Against Atherosclerosis.
Awan S, Lambert M, Imtiaz A, Alpy F, Tomasetto C, Oulad-Abdelghani M, Schaeffer C, Moritz C, Julien-David D, Najib S, Martinez LO, Matz RL, Collet X, Silva-Rojas R, Böhm J, Herz J, Terrand J, Boucher P. Awan S, et al. Among authors: bohm j. Circ Res. 2022 Jan 21;130(2):184-199. doi: 10.1161/CIRCRESAHA.121.318881. Epub 2021 Dec 10. Circ Res. 2022. PMID: 34886684 Free PMC article.
[Tubular aggregate myopathy and Stormorken syndrome].
Böhm J, Laporte J. Böhm J, et al. Med Sci (Paris). 2018 Nov;34 Hors série n°2:26-31. doi: 10.1051/medsci/201834s208. Epub 2018 Nov 12. Med Sci (Paris). 2018. PMID: 30418142 Free article. French.
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
O'Connor TN, van den Bersselaar LR, Chen YS, Nicolau S, Simon B, Huseth A, Todd JJ, Van Petegem F, Sarkozy A, Goldberg MF, Voermans NC, Dirksen RT; RYR1 Myopathy Consortium. O'Connor TN, et al. J Neuromuscul Dis. 2023;10(1):135-154. doi: 10.3233/JND-221609. J Neuromuscul Dis. 2023. PMID: 36404556 Free PMC article. No abstract available.
76 results