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

Year Number of Results
1987 1
1988 1
1989 1
1990 1
1991 1
1992 2
1993 2
1998 1
1999 1
2000 2
2002 2
2003 2
2004 1
2005 3
2006 2
2009 1
2010 3
2011 2
2012 1
2013 1
2014 2
2015 1
2016 3
2017 3
2018 5
2019 4
2021 4
2022 1
2024 0

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PubMed for id: 1305

47 results

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Page 1
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. Brain. 2019. PMID: 31081514 Free PMC article.
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
Dusl M, Moreno T, Munell F, Macaya A, Gratacòs M, Abicht A, Strom TM, Lochmüller H, Senderek J. Dusl M, et al. J Neurol. 2019 May;266(5):1107-1112. doi: 10.1007/s00415-019-09239-7. Epub 2019 Feb 14. J Neurol. 2019. PMID: 30767057
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D. Logan CV, et al. Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25. Am J Hum Genet. 2015. PMID: 26626625 Free PMC article.
47 results