Wollmann RL - Search Results

1

Variable phenotypes associated with mutations in DOK7.

Anderson JA, Ng JJ, Bowe C, McDonald C, Richman DP, Wollmann RL, Maselli RA. Anderson JA, et al. Among authors: wollmann rl. Muscle Nerve. 2008 Apr;37(4):448-56. doi: 10.1002/mus.20944. Muscle Nerve. 2008. PMID: 18161030

2

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.

Maselli RA, Chen D, Mo D, Bowe C, Fenton G, Wollmann RL. Maselli RA, et al. Among authors: wollmann rl. Muscle Nerve. 2003 Feb;27(2):180-7. doi: 10.1002/mus.10300. Muscle Nerve. 2003. PMID: 12548525

3

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

Maselli RA, Dunne V, Pascual-Pascual SI, Bowe C, Agius M, Frank R, Wollmann RL. Maselli RA, et al. Among authors: wollmann rl. Muscle Nerve. 2003 Sep;28(3):293-301. doi: 10.1002/mus.10433. Muscle Nerve. 2003. PMID: 12929188

4

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL. Maselli RA, et al. Among authors: wollmann rl. Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110. Epub 2010 Apr 6. Hum Mol Genet. 2010. PMID: 20371544 Free PMC article.

5

Cluster of wound botulism in California: clinical, electrophysiologic, and pathologic study.

Maselli RA, Ellis W, Mandler RN, Sheikh F, Senton G, Knox S, Salari-Namin H, Agius M, Wollmann RL, Richman DP. Maselli RA, et al. Among authors: wollmann rl. Muscle Nerve. 1997 Oct;20(10):1284-95. doi: 10.1002/(sici)1097-4598(199710)20:10<1284::aid-mus11>3.0.co;2-3. Muscle Nerve. 1997. PMID: 9324085

6

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome.

Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL. Maselli RA, et al. Among authors: wollmann rl. J Med Genet. 2009 Mar;46(3):203-8. doi: 10.1136/jmg.2008.063693. J Med Genet. 2009. PMID: 19251977 Free PMC article.

7

Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changes.

Richman DP, Nishi K, Morell SW, Chang JM, Ferns MJ, Wollmann RL, Maselli RA, Schnier J, Agius MA. Richman DP, et al. Among authors: wollmann rl. Arch Neurol. 2012 Apr;69(4):453-60. doi: 10.1001/archneurol.2011.2200. Epub 2011 Dec 12. Arch Neurol. 2012. PMID: 22158720 Free PMC article.

8

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.

Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ. Maselli RA, et al. Among authors: wollmann rl. Hum Genet. 2012 Jul;131(7):1123-35. doi: 10.1007/s00439-011-1132-4. Epub 2011 Dec 29. Hum Genet. 2012. PMID: 22205389 Free PMC article.

9

Synaptic basal lamina-associated congenital myasthenic syndromes.

Maselli RA, Arredondo J, Ferns MJ, Wollmann RL. Maselli RA, et al. Among authors: wollmann rl. Ann N Y Acad Sci. 2012 Dec;1275:36-48. doi: 10.1111/j.1749-6632.2012.06807.x. Ann N Y Acad Sci. 2012. PMID: 23278576 Review.

10

Presynaptic congenital myasthenic syndrome due to quantal release deficiency.

Maselli RA, Kong DZ, Bowe CM, McDonald CM, Ellis WG, Agius MA, Gomez CM, Richman DP, Wollmann RL. Maselli RA, et al. Among authors: wollmann rl. Neurology. 2001 Jul 24;57(2):279-89. doi: 10.1212/wnl.57.2.279. Neurology. 2001. PMID: 11468313

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