PubMed for id: 334801

Year	Number of Results
1990	1
1992	1
1996	1
1997	1
2003	1
2005	1
2010	1
2011	1
2012	1
2013	2
2014	1
2015	1
2016	2
2017	3
2018	4
2019	4
2020	4
2021	3
2022	2
2023	1
2024	1

1

X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures.

Brisset M, Ben Yaou R, Carlier RY, Chanut A, Nicolas G, Romero NB, Wahbi K, Decrocq C, Leturcq F, Laforêt P, Malfatti E. Brisset M, et al. Neuromuscul Disord. 2019 Sep;29(9):678-683. doi: 10.1016/j.nmd.2019.06.009. Epub 2019 Jun 19. Neuromuscul Disord. 2019. PMID: 31474437

2

FUS-ALS presenting with myoclonic jerks in a 17-year-old man.

Dodd KC, Power R, Ealing J, Hamdalla H. Dodd KC, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):278-280. doi: 10.1080/21678421.2019.1582665. Epub 2019 Mar 18. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 30879340

3

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C. Carbonell-Corvillo P, et al. Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26. Neuromuscul Disord. 2018. PMID: 30166250 Free article.

4

PREPL deficiency: delineation of the phenotype and development of a functional blood assay.

Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM. Régal L, et al. Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726805 Free article.

5

Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.

Lu Y, Zhao D, Yao S, Wu S, Hong D, Wang Q, Liu J, Smeitink JAM, Yuan Y, Wang Z. Lu Y, et al. J Neurol Sci. 2017 Aug 15;379:137-143. doi: 10.1016/j.jns.2017.05.056. Epub 2017 May 30. J Neurol Sci. 2017. PMID: 28716227

6

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.

Witting N, Werlauff U, Duno M, Vissing J. Witting N, et al. Muscle Nerve. 2016 Mar;53(3):388-93. doi: 10.1002/mus.24765. Epub 2015 Aug 13. Muscle Nerve. 2016. PMID: 26172852

7

Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.

Rocha J, Taipa R, Melo Pires M, Oliveira J, Santos R, Santos M. Rocha J, et al. Pediatr Neurol. 2014 Aug;51(2):275-8. doi: 10.1016/j.pediatrneurol.2014.04.024. Epub 2014 Apr 28. Pediatr Neurol. 2014. PMID: 24950660

8

Kennedy disease misdiagnosed as polymyositis: a case report.

Harutunian GM, Beydoun SR, Rison RA. Harutunian GM, et al. BMC Res Notes. 2013 Sep 28;6:389. doi: 10.1186/1756-0500-6-389. BMC Res Notes. 2013. PMID: 24073646 Free PMC article.

9

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient.

Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, Parton M, Eymard B, Dahl A, Udd B. Dubourg O, et al. J Neurol. 2011 Jun;258(6):1157-63. doi: 10.1007/s00415-011-5900-9. Epub 2011 Jan 30. J Neurol. 2011. PMID: 21279644

10

[A family of autosomal dominant facio-limb-girdle muscular dystrophy].

Takao S, Kira J, Kohtake N, Yoshimura T, Goto I. Takao S, et al. Fukuoka Igaku Zasshi. 1996 Dec;87(12):278-82. Fukuoka Igaku Zasshi. 1996. PMID: 9011111 Review. Japanese.

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