Works matching IS 00778923 AND DT 2014 AND VI 1314 AND IP 1

Results: 11

AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 55, doi. 10.1111/nyas.12426

By:

Martinelli, Diego;
Dionisi‐Vici, Carlo

Publication type:

Article

Introduction to Human Disorders of Copper Metabolism.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. v, doi. 10.1111/nyas.12448

By:

Graper, Mary L.;
Huster, Dominik;
Kaler, Stephen G.;
Lutsenko, Svetlana;
Schilsky, Michael L.;
Thiele, Dennis J.

Publication type:

Article

Pam heterozygous mice reveal essential role for Cu in amygdalar behavioral and synaptic function.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 15, doi. 10.1111/nyas.12378

By:

Gaier, Eric D.;
Eipper, Betty A.;
Mains, Richard E.

Publication type:

Article

New canine models of copper toxicosis: diagnosis, treatment, and genetics.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 42, doi. 10.1111/nyas.12442

By:

Fieten, Hille;
Penning, Louis C.;
Leegwater, Peter A.J.;
Rothuizen, Jan

Publication type:

Article

Positron emission tomography for measurement of copper fluxes in live organisms.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 24, doi. 10.1111/nyas.12383

By:

Peng, Fangyu

Publication type:

Article

Impact of copper deficiency in humans.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 1, doi. 10.1111/nyas.12354

By:

Prohaska, Joseph R.

Publication type:

Article

How copper traverses cellular membranes through the mammalian copper transporter 1, Ctr1.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 32, doi. 10.1111/nyas.12371

By:

Öhrvik, Helena;
Thiele, Dennis J.

Publication type:

Article

ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 49, doi. 10.1111/nyas.12427

By:

Yi, Ling;
Kaler, Stephen

Publication type:

Article

Functional understanding of the versatile protein copper metabolism MURR1 domain 1 (COMMD1) in copper homeostasis.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 6, doi. 10.1111/nyas.12353

By:

Fedoseienko, Alina;
Bartuzi, Paulina;
Sluis, Bart

Publication type:

Article

In Memoriam: H. Ascher Sellner, M.D.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. iv, doi. 10.1111/nyas.12449

By:

Kaler, Stephen G.;
Schilsky, Michael L.

Publication type:

Article

Translational research investigations on ATP7A: an important human copper ATPase.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 64, doi. 10.1111/nyas.12422

By:

Kaler, Stephen G.

Publication type:

Article