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Items: 1 to 20 of 271

1.

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.

Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H.

Neurology. 2006 Oct 10;67(7):1159-64. Epub 2006 Aug 23.

PMID:
16931511
2.

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

Müller JS, Mildner G, Müller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmüller H, Abicht A.

Neurology. 2003 Jun 10;60(11):1805-10.

PMID:
12796535
3.

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

Müller JS, Abicht A, Christen HJ, Stucka R, Schara U, Mortier W, Huebner A, Lochmüller H.

Neuromuscul Disord. 2004 Nov;14(11):744-9.

PMID:
15482960
4.

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

Ohno K, Sadeh M, Blatt I, Brengman JM, Engel AG.

Hum Mol Genet. 2003 Apr 1;12(7):739-48.

PMID:
12651869
5.

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

Maselli RA, Dunne V, Pascual-Pascual SI, Bowe C, Agius M, Frank R, Wollmann RL.

Muscle Nerve. 2003 Sep;28(3):293-301.

PMID:
12929188
6.

Identification of pathogenic mutations in the human rapsyn gene.

Dunne V, Maselli RA.

J Hum Genet. 2003;48(4):204-7. Epub 2003 Mar 5.

PMID:
12730725
7.

Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.

Banwell BL, Ohno K, Sieb JP, Engel AG.

Neuromuscul Disord. 2004 Mar;14(3):202-7.

PMID:
15036330
8.

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
9.

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.

Gaudon K, Pénisson-Besnier I, Chabrol B, Bouhour F, Demay L, Ben Ammar A, Bauché S, Vial C, Nicolas G, Eymard B, Hantaï D, Richard P.

J Med Genet. 2010 Dec;47(12):795-6. doi: 10.1136/jmg.2010.081034. Epub 2010 Oct 7.

10.

An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome.

Müller JS, Stucka R, Neudecker S, Zierz S, Schmidt C, Huebner A, Lochmüller H, Abicht A.

Neurology. 2005 Aug 9;65(3):463-5.

PMID:
16087917
11.

Common founder effect of rapsyn N88K studied using intragenic markers.

Dunne V, Maselli RA.

J Hum Genet. 2004;49(7):366-9. Epub 2004 Jun 8.

PMID:
15252722
12.

[Congenital myasthenic syndromes due to mutations in the rapsyn gene].

Eymard B, Ioos C, Barois A, Estournet B, Mayer M, Fournier E, Yasaki E, Prioleau C, Bauché S, Gaudon K, Leroy JP, Koenig J, Richard P, Hantaï D.

Rev Neurol (Paris). 2004 May;160(5 Pt 2):S78-84. Review. French.

PMID:
15269664
13.

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

Brugnoni R, Maggi L, Canioni E, Moroni I, Pantaleoni C, D'Arrigo S, Riva D, Cornelio F, Bernasconi P, Mantegazza R.

J Neurol. 2010 Jul;257(7):1119-23. doi: 10.1007/s00415-010-5472-0. Epub 2010 Feb 16.

PMID:
20157724
14.

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

Leshinsky-Silver E, Shapira D, Yosovitz K, Ginsberg M, Lerman-Sagie T, Lev D.

J Neurol Sci. 2012 May 15;316(1-2):112-5. doi: 10.1016/j.jns.2012.01.012. Epub 2012 Feb 10.

PMID:
22326364
15.

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

Cossins J, Burke G, Maxwell S, Spearman H, Man S, Kuks J, Vincent A, Palace J, Fuhrer C, Beeson D.

Brain. 2006 Oct;129(Pt 10):2773-83. Epub 2006 Aug 31.

16.

Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

Richard P, Gaudon K, Andreux F, Yasaki E, Prioleau C, Bauché S, Barois A, Ioos C, Mayer M, Routon MC, Mokhtari M, Leroy JP, Fournier E, Hainque B, Koenig J, Fardeau M, Eymard B, Hantaï D.

J Med Genet. 2003 Jun;40(6):e81. No abstract available.

17.

End-plate gamma- and epsilon-subunit mRNA levels in AChR deficiency syndrome due to epsilon-subunit null mutations.

Croxen R, Young C, Slater C, Haslam S, Brydson M, Vincent A, Beeson D.

Brain. 2001 Jul;124(Pt 7):1362-72.

PMID:
11408331
18.

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.

Abicht A, Stucka R, Schmidt C, Briguet A, Höpfner S, Song IH, Pongratz D, Müller-Felber W, Ruegg MA, Lochmüller H.

Brain. 2002 May;125(Pt 5):1005-13.

PMID:
11960891
19.

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H.

Neurology. 1999 Oct 22;53(7):1564-9.

PMID:
10534268
20.

Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.

Middleton L, Ohno K, Christodoulou K, Brengman J, Milone M, Neocleous V, Serdaroğlu P, Deymeer F, Ozdemir C, Mubaidin A, Horany K, Al-Shehab A, Mavromatis I, Mylonas I, Tsingis M, Zamba E, Pantzaris M, Kyriallis K, Engel AG.

Neurology. 1999 Sep 22;53(5):1076-82.

PMID:
10496269

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