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Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

Mathilde Nizon, Benjamin Cogné, Jean‐Michel Vallat, Madeleine Joubert, Jean‐Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt,

European Journal of Human Genetics · 2016 · 19 citations · 13 references

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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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Axon-Glia Interactions and the Domain Organization of Myelinated Axons Requires Neurexin IV/Caspr/Paranodin

Manzoor A. Bhat, Jose C. Rios, Yue Lü et al. · Neuron · 2001 · 543 citations · Full text

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Laura E. Warner, Pedro Mancías, Ian J. Butler et al. · Nature Genetics · 1998 · 493 citations

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Identification of a novel contactin‐associated transmembrane receptor with multiple domains implicated in protein–protein interactions

Elior Peles · The EMBO Journal · 1997 · 406 citations · Full text

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The Axonal Membrane Protein Caspr, a Homologue of Neurexin IV, Is a Component of the Septate-like Paranodal Junctions That Assemble during Myelination

Steven Einheber, George Zanazzi, William Ching et al. · The Journal of Cell Biology · 1997 · 366 citations · Full text

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