Maselli RA - Search Results

1

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations.

Arredondo J, Lara M, Gospe SM Jr, Mazia CG, Vaccarezza M, Garcia-Erro M, Bowe CM, Chang CH, Mezei MM, Maselli RA. Arredondo J, et al. Among authors: maselli ra. Hum Mutat. 2015 Sep;36(9):881-93. doi: 10.1002/humu.22823. Epub 2015 Jul 24. Hum Mutat. 2015. PMID: 26080897 Free PMC article.

2

Fulminant demyelinating neuropathy mimicking cerebral death.

Bakshi N, Maselli RA, Gospe SM Jr, Ellis WG, McDonald C, Mandler RN. Bakshi N, et al. Among authors: maselli ra. Muscle Nerve. 1997 Dec;20(12):1595-7. doi: 10.1002/(sici)1097-4598(199712)20:12<1595::aid-mus17>3.0.co;2-#. Muscle Nerve. 1997. PMID: 9390675

3

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. Neurology. 2001 Jul 24;57(2):279-89. doi: 10.1212/wnl.57.2.279. Neurology. 2001. PMID: 11468313

4

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. Muscle Nerve. 2003 Feb;27(2):180-7. doi: 10.1002/mus.10300. Muscle Nerve. 2003. PMID: 12548525

5

Identification of pathogenic mutations in the human rapsyn gene.

Dunne V, Maselli RA. Dunne V, et al. Among authors: maselli ra. J Hum Genet. 2003;48(4):204-7. doi: 10.1007/s10038-003-0005-7. Epub 2003 Mar 5. J Hum Genet. 2003. PMID: 12730725

6

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. Muscle Nerve. 2003 Sep;28(3):293-301. doi: 10.1002/mus.10433. Muscle Nerve. 2003. PMID: 12929188

7

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: maselli ra. Muscle Nerve. 2008 Apr;37(4):448-56. doi: 10.1002/mus.20944. Muscle Nerve. 2008. PMID: 18161030

8

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. J Med Genet. 2009 Mar;46(3):203-8. doi: 10.1136/jmg.2008.063693. J Med Genet. 2009. PMID: 19251977 Free PMC article.

9

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. 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.

10

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

Maselli RA, Arredondo J, Cagney O, Mozaffar T, Skinner S, Yousif S, Davis RR, Gregg JP, Sivak M, Konia TH, Thomas K, Wollmann RL. Maselli RA, et al. Clin Genet. 2011 Nov;80(5):444-51. doi: 10.1111/j.1399-0004.2010.01602.x. Epub 2010 Dec 22. Clin Genet. 2011. PMID: 21175599

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