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

Year Number of Results
2018 3
2019 8
2020 9
2021 11
2022 2
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30 results
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Page 1
Congenital disorders of glycosylation: Still "hot" in 2020.
Ondruskova N, Cechova A, Hansikova H, Honzik T, Jaeken J. Ondruskova N, et al. Biochim Biophys Acta Gen Subj. 2021 Jan;1865(1):129751. doi: 10.1016/j.bbagen.2020.129751. Epub 2020 Sep 28. Biochim Biophys Acta Gen Subj. 2021. PMID: 32991969 Review.
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM. Milev MP, et al. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120216
Diagnostic delay in patients with FKRP-related muscular dystrophy.
Coffey LN, Stephan CM, Zimmerman MB, Decker CK, Mathews KD. Coffey LN, et al. Neuromuscul Disord. 2021 Dec;31(12):1235-1240. doi: 10.1016/j.nmd.2021.08.013. Epub 2021 Sep 6. Neuromuscul Disord. 2021. PMID: 34857438 Clinical Trial.
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C. Milev MP, et al. Sci Rep. 2019 Oct 1;9(1):14036. doi: 10.1038/s41598-019-50415-6. Sci Rep. 2019. PMID: 31575891 Free PMC article.
MYO-MRI diagnostic protocols in genetic myopathies.
Warman Chardon J, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Fernández-Torrón R, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group. Warman Chardon J, et al. Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16. Neuromuscul Disord. 2019. PMID: 31727541 Review.
Membrane trafficking in health and disease.
Yarwood R, Hellicar J, Woodman PG, Lowe M. Yarwood R, et al. Dis Model Mech. 2020 Apr 30;13(4):dmm043448. doi: 10.1242/dmm.043448. Dis Model Mech. 2020. PMID: 32433026 Free PMC article. Review.
30 results