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4. [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]
5. 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]
6. Genes at the junction--candidates for congenital myasthenic syndromes. Vincent A; Newland C; Croxen R; Beeson D Trends Neurosci; 1997 Jan; 20(1):15-22. PubMed ID: 9004414 [TBL] [Abstract][Full Text] [Related]
8. Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies. Engel AG; Ohno K; Milone M; Sine SM Ann N Y Acad Sci; 1998 May; 841():140-56. PubMed ID: 9668233 [No Abstract] [Full Text] [Related]
9. 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]
10. Two cases of congenital myasthenic syndrome with vocal cord paralysis. Al-Shahoumi R; Brady LI; Schwartzentruber J; Tarnopolsky MA Neurology; 2015 Mar; 84(12):1281-2. PubMed ID: 25695962 [No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. 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]
15. [Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse]. Ohno K; Ito M; Masuda A Nihon Shinkei Seishin Yakurigaku Zasshi; 2009 Aug; 29(4):145-51. PubMed ID: 19764481 [TBL] [Abstract][Full Text] [Related]
16. Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes. Zhou M; Engel AG; Auerbach A Proc Natl Acad Sci U S A; 1999 Aug; 96(18):10466-71. PubMed ID: 10468632 [TBL] [Abstract][Full Text] [Related]
17. Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Engel AG; Ohno K; Sine SM Nat Rev Neurosci; 2003 May; 4(5):339-52. PubMed ID: 12728262 [No Abstract] [Full Text] [Related]
18. Current understanding of congenital myasthenic syndromes. Engel AG; Sine SM Curr Opin Pharmacol; 2005 Jun; 5(3):308-21. PubMed ID: 15907919 [TBL] [Abstract][Full Text] [Related]
19. 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]