Concepedia

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

Asma Ammar, François Petit, Nektaria Alexandri, Karen Gaudon, Stéphanie Bauché, Andrée Rouche, Delphine Gras, Emmanuel Fournier, Jeanine Koenig, Tanya Stojkovic,

Journal of Neurology · 2009 · 79 citations · 19 references

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19

A Histochemical Method for Localizing Cholinesterase Activity.

George B. Koelle, Jonas S. Friedenwald · Experimental Biology and Medicine · 1949 · 1.2K citations

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The Muscle Protein Dok-7 Is Essential for Neuromuscular Synaptogenesis

Kumiko Okada, Akane Inoue, Momoko Okada et al. · Science · 2006 · 430 citations

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SOME COMMENTS ON THE HISTOCHEMICAL CHARACTERIZATION OF MUSCLE ADENOSINE TRIPHOSPHATASE

Michael H. Brooke, Kenneth K. Kaiser · Journal of Histochemistry & Cytochemistry · 1969 · 292 citations

, , +12

Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

David Beeson, Osamu Higuchi, Jackie Palace et al. · Science · 2006 · 269 citations

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MUSK, a new target for mutations causing congenital myasthenic syndrome

Frédéric Chevessier, Brice Faraut, Aymeric Ravel‐Chapuis et al. · Human Molecular Genetics · 2004 · 188 citations · Full text

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