PubMed for id: 1627492

Year	Number of Results
1995	1
1996	1
1997	1
1998	1
2000	4
2001	8
2002	3
2003	4
2004	3
2005	1
2006	4
2007	10
2008	3
2010	8
2011	14
2012	12
2013	14
2014	15
2015	13
2016	11
2017	13
2018	10
2019	14
2020	14
2021	11
2022	14
2023	8

1

[The dynamin-2-gene related centronuclear myopathy].

Bitoun M. Bitoun M. Med Sci (Paris). 2023 Nov;39 Hors série n° 1:6-10. doi: 10.1051/medsci/2023130. Epub 2023 Nov 17. Med Sci (Paris). 2023. PMID: 37975763 French.

2

High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy.

Andreoletti G, Romano O, Chou HJ, Sefid-Dashti MJ, Grilli A, Chen C, Lakshman N, Purushothaman P, Varfaj F, Mavilio F, Bicciato S, Urbinati F. Andreoletti G, et al. Am J Hum Genet. 2023 Oct 5;110(10):1648-1660. doi: 10.1016/j.ajhg.2023.08.008. Epub 2023 Sep 5. Am J Hum Genet. 2023. PMID: 37673065 Clinical Trial.

3

Respiratory features of centronuclear myopathy in the Netherlands.

Bouma S, Cobben N, Bouman K, Gaytant M, van de Biggelaar R, van Doorn J, Reumers SFI, Voet NB, Doorduin J, Erasmus CE, Kamsteeg EJ, Jungbluth H, Wijkstra P, Voermans NC. Bouma S, et al. Neuromuscul Disord. 2023 Jul;33(7):580-588. doi: 10.1016/j.nmd.2023.06.003. Epub 2023 Jun 11. Neuromuscul Disord. 2023. PMID: 37364426 Free article.

4

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.

Perry L, Stimpson G, Singh L, Morrow JM, Shah S, Baranello G, Muntoni F, Sarkozy A. Perry L, et al. Ann Clin Transl Neurol. 2023 Jul;10(7):1219-1229. doi: 10.1002/acn3.51816. Epub 2023 Jun 2. Ann Clin Transl Neurol. 2023. PMID: 37265148 Free PMC article.

5

Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.

Karpicheva OE, Avrova SV, Bogdanov AL, Sirenko VV, Redwood CS, Borovikov YS. Karpicheva OE, et al. Int J Mol Sci. 2023 Mar 18;24(6):5829. doi: 10.3390/ijms24065829. Int J Mol Sci. 2023. PMID: 36982903 Free PMC article.

6

Collagen VI in the Musculoskeletal System.

Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C. Di Martino A, et al. Int J Mol Sci. 2023 Mar 7;24(6):5095. doi: 10.3390/ijms24065095. Int J Mol Sci. 2023. PMID: 36982167 Free PMC article. Review.

7

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

Baker EK, Al Gharaibeh FN, Bove K, Calvo-Garcia MA, Shillington A, VandenHeuvel K, Cortezzo DE. Baker EK, et al. Am J Med Genet A. 2023 Jun;191(6):1646-1651. doi: 10.1002/ajmg.a.63188. Epub 2023 Mar 25. Am J Med Genet A. 2023. PMID: 36965156

8

Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion.

Jabbarpour N, Poorshiri B, Saei H, Barzegar M, Bonyadi M. Jabbarpour N, et al. J Genet. 2023;102:18. J Genet. 2023. PMID: 36823680 Free article.

9

Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort.

Franken DK, Bouman K, Reumers SFI, Braun F, Spillane J, Pennings M, Houwen SLS, Erasmus CE, Schara-Schmidt U, Kamsteeg EJ, Jungbluth H, Voermans NC. Franken DK, et al. Neurology. 2022 Nov 15;99(20):e2223-e2233. doi: 10.1212/WNL.0000000000201084. Epub 2022 Oct 4. Neurology. 2022. PMID: 36195450

10

[Clinical characteristics and genetic analysis of a pedigree affected with neonatal central core disease].

Dong X, Zheng X, Lin F, Feng L, Xiong H, Kang W. Dong X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jun 10;39(6):607-610. doi: 10.3760/cma.j.cn511374-20210207-00118. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35773764 Chinese.

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