Maselli RA[au] - Search Results

Year	Number of Results
1988	2
1989	2
1991	3
1992	3
1993	4
1994	1
1995	1
1996	1
1997	3
1998	7
2000	2
2001	1
2002	2
2003	5
2004	2
2006	1
2007	2
2008	1
2009	1
2010	2
2011	4
2012	5
2013	2
2014	2
2015	3
2016	1
2017	3
2018	2
2019	2
2020	1
2021	2
2022	0

1

Synaptic basal lamina-associated congenital myasthenic syndromes.

Maselli RA, Arredondo J, Ferns MJ, Wollmann RL. Maselli RA, et al. 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.

2

Dominant and recessive congenital myasthenic syndromes caused by SYT2 mutations.

Maselli RA, Wei DT, Hodgson TS, Sampson JB, Vazquez J, Smith HL, Pytel P, Ferns M. Maselli RA, et al. Muscle Nerve. 2021 Aug;64(2):219-224. doi: 10.1002/mus.27332. Epub 2021 Jun 12. Muscle Nerve. 2021. PMID: 34037996

3

Electrodiagnosis of disorders of neuromuscular transmission.

Maselli RA. Maselli RA. Ann N Y Acad Sci. 1998 May 13;841:696-711. doi: 10.1111/j.1749-6632.1998.tb11005.x. Ann N Y Acad Sci. 1998. PMID: 9668317 Review. No abstract available.

4

Atypical Case of POEMS Presented as Demyelinating Polyneuropathy With Motor Conduction Block.

Guo SY, Duffy AO, Maselli RA, Xiong G. Guo SY, et al. Among authors: maselli ra. J Clin Neuromuscul Dis. 2021 Dec 1;23(2):116-118. doi: 10.1097/CND.0000000000000385. J Clin Neuromuscul Dis. 2021. PMID: 34808659 Free PMC article. No abstract available.

5

Effect of 3,4-diaminopyridine at the murine neuromuscular junction.

Ng F, Lee DC, Schrumpf LA, Mazurek ME, Lee Lo V, Gill SK, Maselli RA. Ng F, et al. Among authors: maselli ra. Muscle Nerve. 2017 Feb;55(2):223-231. doi: 10.1002/mus.25208. Epub 2016 Aug 17. Muscle Nerve. 2017. PMID: 27251582

6

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

Maselli RA, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Maselli RA, et al. Ann N Y Acad Sci. 2018 Feb;1413(1):119-125. doi: 10.1111/nyas.13585. Epub 2018 Jan 28. Ann N Y Acad Sci. 2018. PMID: 29377152 Free PMC article. Review.

7

Antibody effector mechanisms in myasthenia gravis. The complement hypothesis.

Richman DP, Agius MA, Kirvan CA, Gomez CM, Fairclough RH, Dupont BL, Maselli RA. Richman DP, et al. Among authors: maselli ra. Ann N Y Acad Sci. 1998 May 13;841:450-65. doi: 10.1111/j.1749-6632.1998.tb10962.x. Ann N Y Acad Sci. 1998. PMID: 9668274 Review. No abstract available.

8

Animal models of antimuscle-specific kinase myasthenia.

Richman DP, Nishi K, Ferns MJ, Schnier J, Pytel P, Maselli RA, Agius MA. Richman DP, et al. Among authors: maselli ra. Ann N Y Acad Sci. 2012 Dec;1274:140-7. doi: 10.1111/j.1749-6632.2012.06782.x. Ann N Y Acad Sci. 2012. PMID: 23252909 Free PMC article.

9

Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations.

Bissay V, Maselli RA. Bissay V, et al. Among authors: maselli ra. J Clin Neuromuscul Dis. 2019 Sep;21(1):30-34. doi: 10.1097/CND.0000000000000246. J Clin Neuromuscul Dis. 2019. PMID: 31453852

10

Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.

Maselli RA, van der Linden H Jr, Ferns M. Maselli RA, et al. Am J Med Genet A. 2020 Jul;182(7):1744-1749. doi: 10.1002/ajmg.a.61579. Epub 2020 Apr 6. Am J Med Genet A. 2020. PMID: 32250532

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