Concepedia

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations

Andrea Accogli, Marcello Scala, Annalisa Calcagno, Flavia Napoli, Natascia Di Iorgi, Serena Arrigo, Maria Margherita Mancardi, Giulia Prato, Livia Pisciotta, Mato Nagel,

European Journal of Medical Genetics · 2018 · 31 citations · 20 references

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20

Magnesium gates glutamate-activated channels in mouse central neurones

Linda M. Nowak, Pìotr Bregestovski, Philippe Ascher et al. · Nature · 1984 · 4K citations

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CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia

Marchel Stuiver, Sergio Laínez, Constanze Will et al. · The American Journal of Human Genetics · 2011 · 210 citations · Full text

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Basolateral Mg2+ Extrusion via CNNM4 Mediates Transcellular Mg2+ Transport across Epithelia: A Mouse Model

Daisuke Yamazaki, Yosuke Funato, Jiro Miura et al. · PLoS Genetics · 2013 · 164 citations · Full text

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Interleukin-1 is essential for systemic inflammatory bone loss

K Polzer, Leo A. B. Joosten, Jürg A. Gasser et al. · Annals of the Rheumatic Diseases · 2009 · 145 citations

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CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with Hypomagnesemia

Francisco J. Arjona, Jeroen H. F. de Baaij, Karl P. Schlingmann et al. · PLoS Genetics · 2014 · 134 citations · Full text

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