| 1 | Diagnosis of congenital myasthenic syndrome with muta tion of the RAPSN gene after general anaesthesia. (21372719) | Gentili A.... Baroncini S. | 2011 | RAPSN |
| 2 | Congenital stridor with feeding difficulty as a prese nting symptom of Dok7 congenital myasthenic syndrome. (20554332) | Jephson C.G.... Bailey C.M. | 2010 | DOK7 |
| 3 | Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. (19147685) | Bian Y.... Ohno K. | 2009 | CHRNA1, PTBP1 |
| 4 | Myasthenic syndrome due to defects in rapsyn: Clinica l and molecular findings in 39 patients. (19620612) | Milone M.... Engel A.G. | 2009 | RAPSN |
| 5 | A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions. (18718936) | Chevessier F.... Witzemann V. | 2008 | MUSK |
| 6 | Congenital myasthenic syndromes and the formation of the neuromuscular junction. (18567858) | Beeson D.... Vincent A. | 2008 | RAPSN, DOK7 |
| 7 | SOX1 antibodies are markers of paraneoplastic Lambert-Eaton myasthenic syndrome. (18032743) | Sabater L.... Graus F. | 2008 | SOX1 |
| 8 | Congenital myasthenic syndromes in childhood: diagnostic and management challenges. (18707767) | Kinali M.... Robb S.A. | 2008 | COLQ, DOK7 |
| 9 | Further observations in congenital myasthenic syndromes. (18567859) | Engel A.G.... Sine S.M. | 2008 | ACHE, CHAT, MUSK |
| 10 | A transient neonatal myasthenic syndrome with anti-musk antibodies. (18378885) | Niks E.H.... Verschuuren J.J. | 2008 | MUSK |
| 11 | hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. (18806275) | Masuda A.... Ohno K. | 2008 | CHRNA1 |
| 12 | Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK. (16550915) | Chevessier F.... Hantai D. | 2005 | MUSK |
| 13 | Current understanding of congenital myasthenic syndromes. (15907919) | Engel A.G.... Sine S.M. | 2005 | CHAT, MUSK, RAPSN |
| 14 | Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants. (15701560) | Barisic N.... Abicht A. | 2005 | CHAT |
| 15 | Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. (15079006) | Webster R.... Beeson D. | 2004 | CHRNA1 |
| 16 | Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. (14659409) | Yasaki E.... Hantai D. | 2004 | RAPSN |
| 17 | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. (15036330) | Banwell B.L.... Engel A.G. | 2004 | RAPSN |
| 18 | Congenital myasthenic syndrome: presentation, electrodiagnosis, and muscle biopsy. (15119478) | Gurnett C.A.... Connolly A.M. | 2004 | ACHE |
| 19 | Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation (15034473) | Andreux F.... Eymard B. | 2004 | RAPSN |
| 20 | Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase. (12609506) | Schmidt C.... Lochmuller H. | 2003 | CHAT |
| 21 | Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. (12796535) | Mueller J.S.... Abicht A. | 2003 | RAPSN |
| 22 | Congenital myasthenic syndromes: progress over the past decade. (12508290) | Engel A.G.... Sine S.M. | 2003 | RAPSN |
| 23 | Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes. (14592868) | Beeson D.... Vincent A. | 2003 | CHRNE |
| 24 | Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits. (12562900) | Hatton C.J.... Colquhoun D. | 2003 | CHRNE |
| 25 | Congenital myasthenic syndromes: A diverse array of molecular targets. (15034283) | Engel A.G.... Sine S.M. | 2003 | RAPSN |
| 26 | Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. (12929188) | Maselli R.A.... Wollmann R.L. | 2003 | RAPSN |
| 27 | E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. (12651869) | Ohno K.... Engel A.G. | 2003 | RAPSN |
| 28 | Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316) | Croxen R.... Beeson D. | 2002 | CHRNE |
| 29 | Congenital myasthenic syndromes: genetic defects of t he neuromuscular junction. (11898587) | Ohno K.... Engel A.G. | 2002 | CHAT |
| 30 | Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. (11791205) | Ohno K.... Milone M. | 2002 | RAPSN |
| 31 | Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. (11172068) | Ohno K.... Engel A.G. | 2001 | CHAT |
| 32 | Acetylcholine receptor delta subunit mutations underlie a fast- channel myasthenic syndrome and arthrogryposis multiplex congenita. (11435464) | Brownlow S.... Beeson D. | 2001 | CHRND |
| 33 | Congenital myasthenic syndrome with sleep hypoventilation. (10883011) | Iannaccone S.T.... Luckett P. | 2000 | ACHE |
| 34 | Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. (11030414) | Sieb J.P.... Steinlein O.K. | 2000 | UTRN, CHRNE |
| 35 | Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. (10962020) | Wang H.-L.... Sine S.M. | 2000 | CHRNE |
| 36 | Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. (10446808) | Banwell B.L.... Engel A.G. | 1999 | PLEC |
| 37 | Congenital myasthenic syndromes: recent advances. (10025421) | Engel A.G.... Sine S.M. | 1999 | ACHE |
| 38 | Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency. (9443457) | Sieb J.P.... Ries F. | 1998 | UTRN |
| 39 | Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). (9758617) | Donger C.... Guicheney P. | 1998 | ACHE, COLQ |
| 40 | Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. (9546329) | Harper C.M.... Engel A.G. | 1998 | CHRNA1 |
| 41 | Immunopathogenesis of myasthenia gravis and the Lambert-Eaton myasthenic syndrome (9264830) | LisA1 L. | 1997 | TTN |
| 42 | Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. (9158151) | Croxen R.... Newsom-Davis J. | 1997 | CHRNA1 |
| 43 | Mapping of the familial infantile myasthenia (congeni tal myasthenic syndrome type Ia) gene to chromosome 17p with evidence of geneti c homogeneity. (9097970) | Christodoulou K.... Middleton L.T. | 1997 | FIMG1 |
| 44 | Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. (8755487) | Ohno K.... Engel A.G. | 1996 | CHRNE |
| 45 | New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (8872460) | Engel A.G.... Sine S.M. | 1996 | CHRND, CHRNA1, CHRNB1 |
| 46 | Mutation of the acetylcholine receptor alpha subunit causes a slow- channel myasthenic syndrome by enhancing agonist binding affinity. (7619526) | Sine S.M.... Engel A.G. | 1995 | CHRNA1 |
| 47 | Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. (7531341) | Ohno K.... Engel A.G. | 1995 | CHRNE |
| 48 | Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests (7863154) | Chauplannaz G.... Bady B. | 1994 | CHRNA1 |
| 49 | Cloning and characterization of a Lambert-Eaton myasthenic syndrome antigen. (8494331) | Rosenfeld M.R.... Furneaux H.M. | 1993 | CACNB2, CACNB3, MYSA |
| 50 | A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors. (1313543) | Triggs W.J.... Roongta S.M. | 1992 | ACHE |
