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Items: 1 to 20 of 97

1.

The Curse of Apneic Spells.

Radke J, Dreesmann M, Radke M, von Moers A, Abicht A, Stenzel W, Goebel HH.

Semin Pediatr Neurol. 2018 Jul;26:56-58. doi: 10.1016/j.spen.2017.03.006. Epub 2017 Apr 13.

PMID:
29961520
2.

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
3.

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
4.

Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

Das AS, Agamanolis DP, Cohen BH.

Pediatr Neurol. 2014 Nov;51(5):717-20. doi: 10.1016/j.pediatrneurol.2014.07.032. Epub 2014 Aug 6.

PMID:
25194721
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.

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Natera-de Benito D, Bestué M, Vilchez JJ, Evangelista T, Töpf A, García-Ribes A, Trujillo-Tiebas MJ, García-Hoyos M, Ortez C, Camacho A, Jiménez E, Dusl M, Abicht A, Lochmüller H, Colomer J, Nascimento A.

Neuromuscul Disord. 2016 Feb;26(2):153-9. doi: 10.1016/j.nmd.2015.10.013. Epub 2015 Nov 23.

PMID:
26782015
7.

Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

Kinali M, Beeson D, Pitt MC, Jungbluth H, Simonds AK, Aloysius A, Cockerill H, Davis T, Palace J, Manzur AY, Jimenez-Mallebrera C, Sewry C, Muntoni F, Robb SA.

J Neuroimmunol. 2008 Sep 15;201-202:6-12. doi: 10.1016/j.jneuroim.2008.06.026. Epub 2008 Aug 15.

PMID:
18707767
8.

Rapsyn congenital myasthenic syndrome worsened by fluoxetine.

Visser AC, Laughlin RS, Litchy WJ, Benarroch EE, Milone M.

Muscle Nerve. 2017 Jan;55(1):131-135. doi: 10.1002/mus.25244. Epub 2016 Aug 10.

PMID:
27397848
9.

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
10.

Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.

Gentili A, Ansaloni S, Morello W, Cecini MT, Cordelli DM, Baroncini S.

Eur J Anaesthesiol. 2011 Oct;28(10):748-9. doi: 10.1097/EJA.0b013e3283453f4b. No abstract available.

PMID:
21372719
11.

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F.

Neuromuscul Disord. 2010 Dec;20(12):796-800. doi: 10.1016/j.nmd.2010.07.274. Epub 2010 Oct 14.

PMID:
20951040
12.

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
13.

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F.

Neuromuscul Disord. 2001 Jan;11(1):35-40.

PMID:
11166164
14.

Variable phenotypes associated with mutations in DOK7.

Anderson JA, Ng JJ, Bowe C, McDonald C, Richman DP, Wollmann RL, Maselli RA.

Muscle Nerve. 2008 Apr;37(4):448-56.

PMID:
18161030
15.

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.

16.

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
17.

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.

Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.

Brain. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7.

PMID:
18180250
18.

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
19.

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS, Herczegfalvi A, Vilchez JJ, Colomer J, Bachinski LL, Mihaylova V, Santos M, Schara U, Deschauer M, Shevell M, Poulin C, Dias A, Soudo A, Hietala M, Aärimaa T, Krahe R, Karcagi V, Huebner A, Beeson D, Abicht A, Lochmüller H.

Brain. 2007 Jun;130(Pt 6):1497-506. Epub 2007 Apr 17.

PMID:
17439981
20.

Case 2: Hypotonia and Muscle Weakness since Birth in a 2-year-old Boy.

Bhoopalan SV, Jain R.

Pediatr Rev. 2017 Nov;38(11):531. doi: 10.1542/pir.2016-0187. No abstract available.

PMID:
29093122

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