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Items: 1 to 20 of 136

1.

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, Müller JS, Lochmüller H, Slater C, Vincent A, Yamanashi Y.

Science. 2006 Sep 29;313(5795):1975-8. Epub 2006 Aug 17.

2.

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S, Yamanashi Y, Beeson D.

Brain. 2007 Jun;130(Pt 6):1507-15. Epub 2007 Apr 23.

PMID:
17452375
3.

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J, Liu WW, Belaya K, Maxwell S, Oldridge M, Lester T, Robb S, Beeson D.

Hum Mol Genet. 2012 Sep 1;21(17):3765-75. doi: 10.1093/hmg/dds198. Epub 2012 Jun 1.

PMID:
22661499
4.

Dok-7/MuSK signaling and a congenital myasthenic syndrome.

Yamanashi Y, Higuch O, Beeson D.

Acta Myol. 2008 Jul;27:25-9.

5.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D.

Neuromuscul Disord. 2004 Jan;14(1):24-32.

PMID:
14659409
6.

Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7.

Hamuro J, Higuchi O, Okada K, Ueno M, Iemura S, Natsume T, Spearman H, Beeson D, Yamanashi Y.

J Biol Chem. 2008 Feb 29;283(9):5518-24. doi: 10.1074/jbc.M708607200. Epub 2007 Dec 29.

7.

Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.

Müller JS, Jepson CD, Laval SH, Bushby K, Straub V, Lochmüller H.

Hum Mol Genet. 2010 May 1;19(9):1726-40. doi: 10.1093/hmg/ddq049. Epub 2010 Feb 10.

PMID:
20147321
8.

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

Ben Ammar A, Soltanzadeh P, Bauché S, Richard P, Goillot E, Herbst R, Gaudon K, Huzé C, Schaeffer L, Yamanashi Y, Higuchi O, Taly A, Koenig J, Leroy JP, Hentati F, Najmabadi H, Kahrizi K, Ilkhani M, Fardeau M, Eymard B, Hantaï D.

PLoS One. 2013;8(1):e53826. doi: 10.1371/journal.pone.0053826. Epub 2013 Jan 9. Erratum in: PLoS One. 2013;8(9). doi: 10.1371/annotation/3ff2b918-c83c-4c6f-a2e2-4d91294ec92f.

9.

Congenital myasthenic syndromes and the formation of the neuromuscular junction.

Beeson D, Webster R, Cossins J, Lashley D, Spearman H, Maxwell S, Slater CR, Newsom-Davis J, Palace J, Vincent A.

Ann N Y Acad Sci. 2008;1132:99-103. doi: 10.1196/annals.1405.049.

PMID:
18567858
10.

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B.

J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11.

PMID:
20012313
11.

A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.

Chevessier F, Girard E, Molgó J, Bartling S, Koenig J, Hantaï D, Witzemann V.

Hum Mol Genet. 2008 Nov 15;17(22):3577-95. doi: 10.1093/hmg/ddn251. Epub 2008 Aug 21.

PMID:
18718936
12.

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.

Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25.

13.

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D.

Am J Hum Genet. 2012 Jul 13;91(1):193-201. doi: 10.1016/j.ajhg.2012.05.022. Epub 2012 Jun 27.

14.

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia.

Selcen D, Ohkawara B, Shen XM, McEvoy K, Ohno K, Engel AG.

JAMA Neurol. 2015 Aug;72(8):889-96. doi: 10.1001/jamaneurol.2015.0853.

15.

[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].

Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D.

J Soc Biol. 2005;199(1):61-77. French.

PMID:
16114265
16.

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.

Müller JS, Mihaylova V, Abicht A, Lochmüller H.

Expert Rev Mol Med. 2007 Aug 9;9(22):1-20. Review.

PMID:
17686188
17.

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.

Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110. Epub 2010 Apr 6.

18.

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.

Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30.

19.

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children.

Tsao CY.

Pediatr Neurol. 2016 Jan;54:85-7. doi: 10.1016/j.pediatrneurol.2015.09.019. Epub 2015 Nov 6. Review.

PMID:
26552645
20.

Synaptic dysfunction in congenital myasthenic syndromes.

Beeson D.

Ann N Y Acad Sci. 2012 Dec;1275:63-9. doi: 10.1111/nyas.12000. Review.

PMID:
23278579

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