Distinct neurological disorders with ATP1A3 mutations

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Distinct neurological disorders with ATP1A3 mutations. / Heinzen, Erin L; Arzimanoglou, Alexis; Brashear, Allison; Clapcote, Steven J; Gurrieri, Fiorella; Goldstein, David B; Jóhannesson, Sigurður H; Mikati, Mohamad A; Neville, Brian; Nicole, Sophie; Ozelius, Laurie J; Poulsen, Hanne; Schyns, Tsveta; Sweadner, Kathleen J; van den Maagdenberg, Arn; Vilsen, Bente; for the ATP1A3 Working Group: .

I: Lancet Neurology, Bind 13, Nr. 5, 05.2014, s. 503-514.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

Harvard

Heinzen, EL, Arzimanoglou, A, Brashear, A, Clapcote, SJ, Gurrieri, F, Goldstein, DB, Jóhannesson, SH, Mikati, MA, Neville, B, Nicole, S, Ozelius, LJ, Poulsen, H, Schyns, T, Sweadner, KJ, van den Maagdenberg, A, Vilsen, B & for the ATP1A3 Working Group: 2014, 'Distinct neurological disorders with ATP1A3 mutations', Lancet Neurology, bind 13, nr. 5, s. 503-514. https://doi.org/10.1016/S1474-4422(14)70011-0

APA

Heinzen, E. L., Arzimanoglou, A., Brashear, A., Clapcote, S. J., Gurrieri, F., Goldstein, D. B., Jóhannesson, S. H., Mikati, M. A., Neville, B., Nicole, S., Ozelius, L. J., Poulsen, H., Schyns, T., Sweadner, K. J., van den Maagdenberg, A., Vilsen, B., & for the ATP1A3 Working Group: (2014). Distinct neurological disorders with ATP1A3 mutations. Lancet Neurology, 13(5), 503-514. https://doi.org/10.1016/S1474-4422(14)70011-0

CBE

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B, for the ATP1A3 Working Group: . 2014. Distinct neurological disorders with ATP1A3 mutations. Lancet Neurology. 13(5):503-514. https://doi.org/10.1016/S1474-4422(14)70011-0

MLA

Vancouver

Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB o.a. Distinct neurological disorders with ATP1A3 mutations. Lancet Neurology. 2014 maj;13(5):503-514. https://doi.org/10.1016/S1474-4422(14)70011-0

Author

Heinzen, Erin L ; Arzimanoglou, Alexis ; Brashear, Allison ; Clapcote, Steven J ; Gurrieri, Fiorella ; Goldstein, David B ; Jóhannesson, Sigurður H ; Mikati, Mohamad A ; Neville, Brian ; Nicole, Sophie ; Ozelius, Laurie J ; Poulsen, Hanne ; Schyns, Tsveta ; Sweadner, Kathleen J ; van den Maagdenberg, Arn ; Vilsen, Bente ; for the ATP1A3 Working Group: . / Distinct neurological disorders with ATP1A3 mutations. I: Lancet Neurology. 2014 ; Bind 13, Nr. 5. s. 503-514.

Bibtex

@article{3b72ceba33bb4c8794333698cb1a535a,
title = "Distinct neurological disorders with ATP1A3 mutations",
abstract = "Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.",
author = "Heinzen, {Erin L} and Alexis Arzimanoglou and Allison Brashear and Clapcote, {Steven J} and Fiorella Gurrieri and Goldstein, {David B} and J{\'o}hannesson, {Sigur{\dh}ur H} and Mikati, {Mohamad A} and Brian Neville and Sophie Nicole and Ozelius, {Laurie J} and Hanne Poulsen and Tsveta Schyns and Sweadner, {Kathleen J} and {van den Maagdenberg}, Arn and Bente Vilsen and {for the ATP1A3 Working Group:} and Einholm, {Anja P.} and Karin Lykke-Hartmann",
note = "Copyright {\textcopyright} 2014 Elsevier Ltd. All rights reserved.",
year = "2014",
month = may,
doi = "10.1016/S1474-4422(14)70011-0",
language = "English",
volume = "13",
pages = "503--514",
journal = "Lancet Neurology",
issn = "1474-4422",
publisher = "TheLancet Publishing Group",
number = "5",

}

RIS

TY - JOUR

T1 - Distinct neurological disorders with ATP1A3 mutations

AU - Heinzen, Erin L

AU - Arzimanoglou, Alexis

AU - Brashear, Allison

AU - Clapcote, Steven J

AU - Gurrieri, Fiorella

AU - Goldstein, David B

AU - Jóhannesson, Sigurður H

AU - Mikati, Mohamad A

AU - Neville, Brian

AU - Nicole, Sophie

AU - Ozelius, Laurie J

AU - Poulsen, Hanne

AU - Schyns, Tsveta

AU - Sweadner, Kathleen J

AU - van den Maagdenberg, Arn

AU - Vilsen, Bente

AU - for the ATP1A3 Working Group:

AU - Einholm, Anja P.

AU - Lykke-Hartmann, Karin

N1 - Copyright © 2014 Elsevier Ltd. All rights reserved.

PY - 2014/5

Y1 - 2014/5

N2 - Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.

AB - Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.

U2 - 10.1016/S1474-4422(14)70011-0

DO - 10.1016/S1474-4422(14)70011-0

M3 - Journal article

C2 - 24739246

VL - 13

SP - 503

EP - 514

JO - Lancet Neurology

JF - Lancet Neurology

SN - 1474-4422

IS - 5

ER -