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Results: 1 to 20 of 134

1.

Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

Maselli R, Dris H, Schnier J, Cockrell J, Wollmann R.

Clin Genet. 2007 Jul;72(1):63-5. No abstract available.

PMID:
17594401
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
12807980
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M.

Am J Hum Genet. 2002 Apr;70(4):875-85. Epub 2002 Jan 14.

PMID:
11791205
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H, Abicht A.

Brain. 2006 Oct;129(Pt 10):2784-93. Epub 2006 Aug 17.

PMID:
16916845
[PubMed - indexed for MEDLINE]
Free Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
16945936
[PubMed - indexed for MEDLINE]
Free Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, Nicolle M, Hilton-Jones D, Newsom-Davis J, Palace J, Beeson D.

Neurology. 2003 Sep 23;61(6):826-8.

PMID:
14504330
[PubMed - indexed for MEDLINE]
14.

[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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
20930056
[PubMed - indexed for MEDLINE]
19.

Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.

Ioos C, Barois A, Richard P, Eymard B, Hantaï D, Estournet-Mathiaud B.

Neuropediatrics. 2004 Aug;35(4):246-9.

PMID:
15328566
[PubMed - indexed for MEDLINE]
20.

Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn.

Ramarao MK, Cohen JB.

Proc Natl Acad Sci U S A. 1998 Mar 31;95(7):4007-12.

PMID:
9520483
[PubMed - indexed for MEDLINE]
Free PMC Article

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