Holm R, Einholm AP, Andersen JP, Vilsen B. âRescue of Na+ affinity in Aspartate 928 Mutants of Na+,K+-ATPase by Secondary Mutation of Glutamate 314.â Journal of Biological Chemistry (April 10, 2015): 9801-9811.
Holm R, Einholm AP, Andersen JP, Vilsen B. âRescue of Na+ affinity in Aspartate 928 Mutants of Na+,K+-ATPase by Secondary Mutation of Glutamate 314.â Journal of Biological Chemistry (April 10, 2015): 9801-9811.
De Koning, Tom J, Marina Tijssen. âMovement Disorders in 2014: Genetic Advances Spark a Revolution in Dystonia Phenotyping.â Nature Reviews Neurology (January 2015).
Holm R, Khandelwal J, Einholm AP, Andersen JP, Artigas P, Vilsen B. âArginine Substitution of a Cysteine in Transmembrane Helix M8 Converts Na+,K+-ATPase to an Electroneutral Pump Similar to H+,K+-ATPase.â Proc Natl Acad Sci USA 114, no. 2 (January 10, 2017): 316-321.
De Vrieze J, van de Laar IMBH, de Rijk-van Andel JF, Kamsteeg EJ, Kotsopoulos IAW, de Man SA. Expanding Phenotype of ATP1A3 – Related Disorders: A Case Series. Child Neurol Open. 2021 Nov 3;8. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8573619/pdf/10.1177_2329048X211048068.pdf
Holm R, Toustrup-Jensen MS, Einholm AP, Schack VR, Andersen JP, Vilsen B. âNeurological Disease Mutations of a3 Na+,K+-ATPase: Structural and Functional Perspectives and Resucue of Compromised Function.â Biochim Biophys Acta (November 2016): 1807-1828.
Sampedro Castaneda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marqquest Caldas V, Conti Reed U, da Silva AMS, OâCallaghan B, Phadke R, Bugiardini E, Sud R, Matthews E. âA Novel ATP1A2 Mutation in a Patient with Hypokalaemic Periodic Paralysis and CNS
Symptoms.â Brain. 2018 Dec; 141 (12): 3308-3318. Full Text: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6262219/pdf/awy283.pdf
Sweadner KJ, Arystarkhova E, Penniston JT, Swoboda KJ, Brashear A, Ozelius LJ. âGenotype-structure-Phenotype Relationships Diverge in Paralogs ATP1A1, ATP1A2, and ATP1A3.â Neurol Genet. 2019 Feb 4; 5(1): e303. Fulltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384024/
Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. âAlternating Hemiplegia of Childhood or Familial Hemiplegic Migraine? A Novel ATP1A2 Mutation.â Annals of Neurology 55, no. 6 (June 2004): 884-887.
Ueda K, Serajee F, Huq AM. âClinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation.â Pediatrics. 2018 Apr; 141 (Suppl 5): S390-S394. Fulltext: http://pediatrics.aappublications.org/content/pediatrics/141/Supplement_5/S390.full.pdf
Unekawa M, Ikeda K, Tomita Y, Kawakami K, Suzuki N. âEnhanced Susceptibility to Cortical Spreading Depression in Two Types of Na+,K+-ATPase α2 Subunit-deficient Mice as a Model of Familial Hemiplegic Migraine 2.â Cephalalgia. 2018 Aug; 38 (9): 1515-1524. Abstract: http://journals.sagepub.com/doi/abs/10.1177/0333102417738249?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed