PMC Links for Protein (Select 662033932) - PMC

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Items: 5

Select item 54138661.

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Vincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, Markus Storbeck, Yun Liu, Stephanie Efthymiou, Andreea Manole, Sarah Wiethoff, Qiaohong Ye, Anand Saggar, Kenneth McElreavey, Shyam S. Krishnakumar, SYNAPS Study Group, Matthew Pitt, Oscar D. Bello, James E. Rothman, Lina Basel‐Vanagaite, Monika Weisz Hubshman, Sharon Aharoni, Adnan Y. Manzur, Brunhilde Wirth, Henry Houlden

Ann Neurol. 2017 Apr; 81(4): 597–603. Published online 2017 Mar 29. doi: 10.1002/ana.24905

PMCID:: PMC5413866

Abstract Article PDF–413K

Select item 44261632.

Genetically-controlled Vesicle-Associated Membrane Protein 1 expression may contribute to Alzheimer’s pathophysiology and susceptibility

Daniel Sevlever, Fanggeng Zou, Li Ma, Sebastian Carrasquillo, Michael G Crump, Oliver J Culley, Talisha A Hunter, Gina D Bisceglio, Linda Younkin, Mariet Allen, Minerva M Carrasquillo, Sigrid B Sando, Jan O Aasly, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Kevin Morgan for ARUK consortium, Olivia Belbin

Mol Neurodegener. 2015; 10: 18. Published online 2015 Apr 9. doi: 10.1186/s13024-015-0015-x

Correction in:: Mol Neurodegener. 2015; 10: 49.

PMCID:: PMC4426163

Abstract Article PDF–841K

Select item 40921453.

Widespread Sequence Variations in VAMP1 across Vertebrates Suggest a Potential Selective Pressure from Botulinum Neurotoxins

Lisheng Peng, Michael Adler, Ann Demogines, Andrew Borrell, Huisheng Liu, Liang Tao, William H. Tepp, Su-Chun Zhang, Eric A. Johnson, Sara L. Sawyer, Min Dong

PLoS Pathog. 2014 Jul; 10(7): e1004177. Published online 2014 Jul 10. doi: 10.1371/journal.ppat.1004177

PMCID:: PMC4092145

Abstract Article PDF–1.3M

Select item 35119834.

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

Cynthia V. Bourassa, Inge A. Meijer, Nancy D. Merner, Kanwal K. Grewal, Mark G. Stefanelli, Kathleen Hodgkinson, Elizabeth J. Ives, William Pryse-Phillips, Mandar Jog, Kym Boycott, David A. Grimes, Sharan Goobie, Richard Leckey, Patrick A. Dion, Guy A. Rouleau

Am J Hum Genet. 2012 Sep 7; 91(3): 548–552. doi: 10.1016/j.ajhg.2012.07.018