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

Year Number of Results
1993 67
1998 2
1999 3
2000 8
2001 5
2002 5
2003 7
2004 2
2005 5
2006 4
2007 3
2008 4
2009 3
2010 1
2011 2
2012 6
2013 6
2014 4
2015 1
2017 5
2018 9
2019 3
2020 8
2021 7
2022 14
2023 15
2024 21
2025 15

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Similar articles for PMID: 20301347

101 results

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Page 1
Congenital Myasthenic Syndromes Overview.
Abicht A, Müller JS, Lochmüller H. Abicht A, et al. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301347 Free Books & Documents. Review.
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview.
Sparks SE, Krasnewich DM. Sparks SE, et al. 2005 Aug 15 [updated 2017 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 Aug 15 [updated 2017 Jan 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301507 Free Books & Documents. Review.
Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E. Sparks SE, et al. 2001 Jan 22 [updated 2012 Aug 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2001 Jan 22 [updated 2012 Aug 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301468 Free Books & Documents. Review.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Belaya K, Rodríguez Cruz PM, Liu WW, Maxwell S, McGowan S, Farrugia ME, Petty R, Walls TJ, Sedghi M, Basiri K, Yue WW, Sarkozy A, Bertoli M, Pitt M, Kennett R, Schaefer A, Bushby K, Parton M, Lochmüller H, Palace J, Muntoni F, Beeson D. Belaya K, et al. Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30. Brain. 2015. PMID: 26133662 Free PMC article.
Hereditary Ataxia Overview.
Perlman S. Perlman S. 1998 Oct 28 [updated 2025 Feb 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 1998 Oct 28 [updated 2025 Feb 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301317 Free Books & Documents. Review.
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.
Della Marina A, Koutsoulidou A, Natera-de Benito D, Tykocinski LO, Tomazou M, Georgiou K, Laner A, Kölbel H, Nascimento A, Ortez C, Abicht A, Thakur BK, Lochmüller H, Phylactou LA, Ruck T, Schara-Schmidt U, Kale D, Hentschel A, Roos A. Della Marina A, et al. Acta Neuropathol Commun. 2025 Feb 13;13(1):29. doi: 10.1186/s40478-025-01946-9. Acta Neuropathol Commun. 2025. PMID: 39948634 Free PMC article.
Leukodystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Vanderver A, Tonduti D, Schiffmann R, Schmidt J, van der Knaap MS. Vanderver A, et al. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Feb 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24501781 Free Books & Documents. Review.
Congenital Myasthenic Syndromes in 2018.
Engel AG. Engel AG. Curr Neurol Neurosci Rep. 2018 Jun 12;18(8):46. doi: 10.1007/s11910-018-0852-4. Curr Neurol Neurosci Rep. 2018. PMID: 29892917 Review.
101 results