| 1 | CHAT, CMS6
|
| Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
|
| Shen XM, Crawford TO, Brengman J, Acsadi G, Iannaconne S, Karaca E, Khoury C, Mah JK, Edvardson S, Bajzer Z, Rodgers D, Engel AG.
|
| Hum Mutat 32(11):1259-67. doi: 10.1002/humu.21560. Epub 2011 Sep 23. 2011
|
| 2 | CHAT, CHRNB1, CMS2B, CMS6
|
| Congenital myasthenic syndromes.
|
| Harper CM.
|
| Semin Neurol 24(1):111-23. Review. 2004
|
| 3 | CHAT, CMS6
|
| Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
|
| Kraner S, Laufenberg I, Strassburg HM, Sieb JP, Steinlein OK.
|
| Arch Neurol 60(5):761-3. 2003
|
| 4 | CHAT, CMS6
|
| Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
|
| Engel AG, Ohno K, Shen XM, Sine SM.
|
| Ann N Y Acad Sci 998:138-60. Review. 2003
|
| 5 | CHAT, CMS6
|
| Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
|
| Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG.
|
| Proc Natl Acad Sci U S A 98(4):2017-22. 2001
|