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Amalia Di Castro

Sapienza University of Rome

2

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Rare Missense Variants of Neuronal Nicotinic Acetylcholine Receptor Altering Receptor Function Are Associated with Sporadic Amyotrophic Lateral Sclerosis

2009 Human Molecular Genetics
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Pathogenic point mutations in a transmembrane domain of the ε subunit increase the Ca2+ permeability of the human endplate ACh receptor

2007 The Journal of Physiology
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