Concepedia

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Lorenzo Maggi, Pia Bernasconi, Adele D’Amico, Raffaella Brugnoni, Chiara Fiorillo, Matteo Garibaldi, Guja Astrea, Claudio Bruno, Filippo M. Santorelli, Rocco Liguori,

Neurological Sciences · 2018 · 34 citations · 42 references

DOI

Concepts

References

42

Myasthenic syndrome caused by mutation of the <i>SCN4A</i> sodium channel

Akira Tsujino, Chantal Maertens, Kinji Ohno et al. · Proceedings of the National Academy of Sciences · 2003 · 179 citations · Full text

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Mutation History of the Roma/Gypsies

Bharti Morar, David Gresham, Dora Angelicheva et al. · The American Journal of Human Genetics · 2004 · 166 citations · Full text

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Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

Violeta Mihaylova, Juliane S. Müller, Juan J. Vílchez et al. · Brain · 2008 · 160 citations · Full text

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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Katrin Hoffmann, Juliane Müller, Sigmar Stricker et al. · The American Journal of Human Genetics · 2006 · 154 citations · Full text

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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

Anne Michalk, Sigmar Stricker, Jutta Becker et al. · The American Journal of Human Genetics · 2008 · 142 citations · Full text

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