PubMed for Bookshelf ID: 1480088

Year	Number of Results
1977	1
1991	1
1996	3
1998	1
1999	1
2000	1
2001	1
2003	1
2004	1
2005	1
2007	1
2008	2
2010	1
2011	1
2012	2
2013	6
2014	2
2015	2
2016	2
2017	4
2018	2
2019	1
2020	5
2021	1
2024	0

1

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Vereb N, Montagnese F, Gläser D, Schoser B. Vereb N, et al. J Neurol. 2021 May;268(5):1708-1720. doi: 10.1007/s00415-020-10328-1. Epub 2020 Dec 2. J Neurol. 2021. PMID: 33263785 Free PMC article.

2

Mutation spectrum and health status in skeletal muscle channelopathies in Japan.

Sasaki R, Nakaza M, Furuta M, Fujino H, Kubota T, Takahashi MP. Sasaki R, et al. Neuromuscul Disord. 2020 Jul;30(7):546-553. doi: 10.1016/j.nmd.2020.06.001. Epub 2020 Jun 7. Neuromuscul Disord. 2020. PMID: 32660787

3

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.

Zhao C, Tang D, Huang H, Tang H, Yang Y, Yang M, Luo Y, Tao H, Tang J, Zhou X, Shi X. Zhao C, et al. PLoS One. 2020 May 14;15(5):e0233017. doi: 10.1371/journal.pone.0233017. eCollection 2020. PLoS One. 2020. PMID: 32407401 Free PMC article.

4

Guidelines on clinical presentation and management of nondystrophic myotonias.

Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Stunnenberg BC, et al. Muscle Nerve. 2020 Oct;62(4):430-444. doi: 10.1002/mus.26887. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32270509 Free PMC article. Review.

5

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita.

Orsini C, Petillo R, D'Ambrosio P, Ergoli M, Picillo E, Scutifero M, Passamano L, De Luca A, Politano L. Orsini C, et al. Front Neurol. 2020 Feb 6;11:63. doi: 10.3389/fneur.2020.00063. eCollection 2020. Front Neurol. 2020. PMID: 32117024 Free PMC article.

6

Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.

Milla CP, De Castro CP, Gómez-González C, Martínez-Montero P, Pascual Pascual SI, Molano Mateos J. Milla CP, et al. J Genet. 2019 Sep;98:71. J Genet. 2019. PMID: 31544778 Free article.

7

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Coote DJ, et al. Eur J Hum Genet. 2018 Jul;26(7):1072-1077. doi: 10.1038/s41431-017-0065-3. Epub 2018 Apr 26. Eur J Hum Genet. 2018. PMID: 29695755 Free PMC article. No abstract available.

8

Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.

Stunnenberg BC, Raaphorst J, Deenen JCW, Links TP, Wilde AA, Verbove DJ, Kamsteeg EJ, van den Wijngaard A, Faber CG, van der Wilt GJ, van Engelen BGM, Drost G, Ginjaar HB. Stunnenberg BC, et al. Neuromuscul Disord. 2018 May;28(5):402-407. doi: 10.1016/j.nmd.2018.03.006. Epub 2018 Mar 9. Neuromuscul Disord. 2018. PMID: 29606556

9

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

Andersen G, Hedermann G, Witting N, Duno M, Andersen H, Vissing J. Andersen G, et al. Brain. 2017 Sep 1;140(9):2295-2305. doi: 10.1093/brain/awx192. Brain. 2017. PMID: 29050397 Clinical Trial.

10

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.

Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Jónsson H, et al. Nature. 2017 Sep 28;549(7673):519-522. doi: 10.1038/nature24018. Epub 2017 Sep 20. Nature. 2017. PMID: 28959963

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