familial hemiplegic migraine

Literature (4)

Literature for DOID 0060178: familial hemiplegic migraine

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects., Müllner C,Broos LA,van den Maagdenberg AM,Striessnig J, J Biol Chem. December 10, 2004; 279(50):1083-351X.
Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation., Koenderink JB,Zifarelli G,Qiu LY,Schwarz W,De Pont JJ,Bamberg E,Friedrich T, Biochim Biophys Acta. May 15, 2005; 1669(1):0006-3002.
Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase., Poulsen H,Khandelia H,Morth JP,Bublitz M,Mouritsen OG,Egebjerg J,Nissen P, Nature. September 2, 2010; 467(7311):0143-5221.
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A., García Segarra N,Gautschi I,Mittaz-Crettol L,Kallay Zetchi C,Al-Qusairi L,Van Bemmelen MX,Maeder P,Bonafé L,Schild L,Roulet-Perez E, J Neurol Sci. July 15, 2014; 342(1-2):1878-5883.

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation., Koenderink JB,Zifarelli G,Qiu LY,Schwarz W,De Pont JJ,Bamberg E,Friedrich T, Biochim Biophys Acta. May 15, 2005; 1669(1):0006-3002.

Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase., Poulsen H,Khandelia H,Morth JP,Bublitz M,Mouritsen OG,Egebjerg J,Nissen P, Nature. September 2, 2010; 467(7311):0143-5221.

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A., García Segarra N,Gautschi I,Mittaz-Crettol L,Kallay Zetchi C,Al-Qusairi L,Van Bemmelen MX,Maeder P,Bonafé L,Schild L,Roulet-Perez E, J Neurol Sci. July 15, 2014; 342(1-2):1878-5883.