124 related articles for article (PubMed ID: 9668239)
1. A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency.
Croxen R; Beeson D; Newland C; Betty M; Vincent A; Newsom-Davis J
Ann N Y Acad Sci; 1998 May; 841():195-8. PubMed ID: 9668239
[No Abstract] [Full Text] [Related]
2. Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.
Milone M; Ohno K; Fukudome T; Shen XM; Brengman J; Griggs RC; Engel AG
Ann N Y Acad Sci; 1998 May; 841():184-8. PubMed ID: 9668237
[No Abstract] [Full Text] [Related]
3. Congenital myasthenic syndromes: experiments of nature.
Engel AG; Ohno K; Sine SM
J Physiol Paris; 1998 Apr; 92(2):113-7. PubMed ID: 9782453
[TBL] [Abstract][Full Text] [Related]
4. Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.
Croxen R; Newland C; Betty M; Vincent A; Newsom-Davis J; Beeson D
Ann Neurol; 1999 Oct; 46(4):639-47. PubMed ID: 10514102
[TBL] [Abstract][Full Text] [Related]
5. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.
Engel AG; Ohno K; Bouzat C; Sine SM; Griggs RC
Ann Neurol; 1996 Nov; 40(5):810-7. PubMed ID: 8957026
[TBL] [Abstract][Full Text] [Related]
6. Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes.
Ohno K; Anlar B; Ozdirim E; Brengman JM; Engel AG
Ann N Y Acad Sci; 1998 May; 841():189-94. PubMed ID: 9668238
[No Abstract] [Full Text] [Related]
7. Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.
Nichols P; Croxen R; Vincent A; Rutter R; Hutchinson M; Newsom-Davis J; Beeson D
Ann Neurol; 1999 Apr; 45(4):439-43. PubMed ID: 10211467
[TBL] [Abstract][Full Text] [Related]
8. Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity.
Middleton LT; Christodoulou K; Deymeer F; Serdaroglu P; Ozdemir C; al-Qudah AK; al-Shehab A; Mavromatis I; Mylonas I; Evoli A; Tsingis M; Zamba E; Kyriallis K
Ann N Y Acad Sci; 1998 May; 841():157-66. PubMed ID: 9668234
[No Abstract] [Full Text] [Related]
9. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.
Ohno K; Quiram PA; Milone M; Wang HL; Harper MC; Pruitt JN; Brengman JM; Pao L; Fischbeck KH; Crawford TO; Sine SM; Engel AG
Hum Mol Genet; 1997 May; 6(5):753-66. PubMed ID: 9158150
[TBL] [Abstract][Full Text] [Related]
10. Congenital myasthenic syndromes. Studies of the AChR and other candidate genes.
Beeson D; Newland C; Croxen R; Buckel A; Li FY; Larsson C; Tariq M; Vincent A; Newsom-Davis J
Ann N Y Acad Sci; 1998 May; 841():181-3. PubMed ID: 9668236
[No Abstract] [Full Text] [Related]
11. A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome.
Gomez CM; Gammack JT
Neurology; 1995 May; 45(5):982-5. PubMed ID: 7538206
[TBL] [Abstract][Full Text] [Related]
12. Congenital myasthenic syndromes: recent advances.
Engel AG; Ohno K; Sine SM
Arch Neurol; 1999 Feb; 56(2):163-7. PubMed ID: 10025421
[TBL] [Abstract][Full Text] [Related]
13. Newly recognized congenital myasthenic syndromes: I. Congenital paucity of synaptic vesicles and reduced quantal release. II. High-conductance fast-channel syndrome. III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine. IV. AChR deficiency and short channel-open time.
Engel AG; Walls TJ; Nagel A; Uchitel O
Prog Brain Res; 1990; 84():125-37. PubMed ID: 2267290
[No Abstract] [Full Text] [Related]
14. Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.
Quiram PA; Ohno K; Milone M; Patterson MC; Pruitt NJ; Brengman JM; Sine SM; Engel AG
J Clin Invest; 1999 Nov; 104(10):1403-10. PubMed ID: 10562302
[TBL] [Abstract][Full Text] [Related]
15. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.
Ohno K; Anlar B; Ozdirim E; Brengman JM; DeBleecker JL; Engel AG
Ann Neurol; 1998 Aug; 44(2):234-41. PubMed ID: 9708546
[TBL] [Abstract][Full Text] [Related]
16. Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene.
Ohno K; Anlar B; Engel AG
Neuromuscul Disord; 1999 May; 9(3):131-5. PubMed ID: 10382905
[TBL] [Abstract][Full Text] [Related]
17. [New insights into congenital myasthenic syndromes].
Ohno K; Engel AG
No To Shinkei; 1997 Dec; 49(12):1102-13. PubMed ID: 9453040
[No Abstract] [Full Text] [Related]
18. Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations.
Croxen R; Vincent A; Newsom-Davis J; Beeson D
Neurology; 2002 May; 58(10):1563-5. PubMed ID: 12034803
[TBL] [Abstract][Full Text] [Related]
19. [Congenital myasthenic syndrome related to homozygous missense mutation in promoter region of acetylcholine receptor epsilon-subunit gene].
Shcherbakova NI; Sidorova OP; Menenkova EIu; Galimova GM; Kononenko IuV; Sanadze AG; Neretin VIa
Zh Nevrol Psikhiatr Im S S Korsakova; 2004; 104(4):55-7. PubMed ID: 15270301
[No Abstract] [Full Text] [Related]
20. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
Engel AG; Ohno K; Milone M; Wang HL; Nakano S; Bouzat C; Pruitt JN; Hutchinson DO; Brengman JM; Bren N; Sieb JP; Sine SM
Hum Mol Genet; 1996 Sep; 5(9):1217-27. PubMed ID: 8872460
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
