Milone M - Search Results

1

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 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. Engel AG, et al. Among authors: milone m. Hum Mol Genet. 1996 Sep;5(9):1217-27. doi: 10.1093/hmg/5.9.1217. Hum Mol Genet. 1996. PMID: 8872460

2

Patch-clamp analysis of the properties of acetylcholine receptor channels at the normal human endplate.

Milone M, Hutchinson DO, Engel AG. Milone M, et al. Muscle Nerve. 1994 Dec;17(12):1364-9. doi: 10.1002/mus.880171204. Muscle Nerve. 1994. PMID: 7526207

3

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.

Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. Ohno K, et al. Among authors: milone m. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):758-62. doi: 10.1073/pnas.92.3.758. Proc Natl Acad Sci U S A. 1995. PMID: 7531341 Free PMC article.

4

Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.

Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. Sine SM, et al. Among authors: milone m. Neuron. 1995 Jul;15(1):229-39. doi: 10.1016/0896-6273(95)90080-2. Neuron. 1995. PMID: 7619526 Free article.

5

Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.

Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Ohno K, et al. Among authors: milone m. Neuron. 1996 Jul;17(1):157-70. doi: 10.1016/s0896-6273(00)80289-5. Neuron. 1996. PMID: 8755487 Free article.

6

Effects of the quinoline derivatives quinine, quinidine, and chloroquine on neuromuscular transmission.

Sieb JP, Milone M, Engel AG. Sieb JP, et al. Among authors: milone m. Brain Res. 1996 Mar 18;712(2):179-89. doi: 10.1016/0006-8993(95)01349-0. Brain Res. 1996. PMID: 8814892

7

Block of the endplate acetylcholine receptor channel by the sympathomimetic agents ephedrine, pseudoephedrine, and albuterol.

Milone M, Engel AG. Milone M, et al. Brain Res. 1996 Nov 18;740(1-2):346-52. doi: 10.1016/s0006-8993(96)00894-3. Brain Res. 1996. PMID: 8973833

8

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 2nd, Brengman JM, Pao L, Fischbeck KH, Crawford TO, Sine SM, Engel AG. Ohno K, et al. Among authors: milone m. Hum Mol Genet. 1997 May;6(5):753-66. doi: 10.1093/hmg/6.5.753. Hum Mol Genet. 1997. PMID: 9158150

9

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.

Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG. Milone M, et al. J Neurosci. 1997 Aug 1;17(15):5651-65. doi: 10.1523/JNEUROSCI.17-15-05651.1997. J Neurosci. 1997. PMID: 9221765 Free PMC article.

10

Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit.

Milone M, Wang HL, Ohno K, Prince R, Fukudome T, Shen XM, Brengman JM, Griggs RC, Sine SM, Engel AG. Milone M, et al. Neuron. 1998 Mar;20(3):575-88. doi: 10.1016/s0896-6273(00)80996-4. Neuron. 1998. PMID: 9539130 Free article.

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