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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

D. Herrmann, Rita Horváth, Janet E. Sowden, Michael Gonzales, Avencia Sánchez-Mejías, Zhuo Guan, Roger G. Whittaker, Jorge L. Almodovar, Maria Lane, Boglárka Bánsági,

The American Journal of Human Genetics · 2014 · 123 citations · 15 references

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15

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Slavé Petrovski, Quanli Wang, Erin L. Heinzen et al. · PLoS Genetics · 2013 · 993 citations · Full text

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Structure of the first C2 domain of synaptotagmin I: A novel Ca2+/phospholipid-binding fold

R. Bryan Sutton, Bazbek Davletov, Albert M. Berghuis et al. · Cell · 1995 · 694 citations · Full text

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Mutational analysis of Drosophila synaptotagmin demonstrates its essential role in Ca2+-activated neurotransmitter release

J. Troy Littleton, Michael Stern, Karen L. Schulze et al. · Cell · 1993 · 467 citations

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Three-Dimensional Structure of the Synaptotagmin 1 C2B-Domain

Imma Fernández, Demet Araç, Josep Ubach et al. · Neuron · 2001 · 402 citations · Full text

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The C2B Ca2+-binding motif of synaptotagmin is required for synaptic transmission in vivo

Jennifer M. Mackler, James A. Drummond, Carin A. Loewen et al. · Nature · 2002 · 337 citations

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