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Items: 1 to 20 of 495

1.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J.

Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.

2.

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.

PLoS One. 2013;8(2):e56120. doi: 10.1371/journal.pone.0056120. Epub 2013 Feb 8.

3.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB.

Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29.

4.

Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.

Hoei-Hansen CE, Dali CÍ, Lyngbye TJ, Duno M, Uldall P.

Eur J Paediatr Neurol. 2014 Jan;18(1):50-4. doi: 10.1016/j.ejpn.2013.08.007. Epub 2013 Sep 25.

PMID:
24100174
5.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R.

Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Spanish.

PMID:
24768197
6.

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Sweney MT, Newcomb TM, Swoboda KJ.

Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13. Review.

7.

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K.

Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12.

PMID:
24523486
8.

A novel ATP1A3 mutation with unique clinical presentation.

Rosewich H, Baethmann M, Ohlenbusch A, Gärtner J, Brockmann K.

J Neurol Sci. 2014 Jun 15;341(1-2):133-5. doi: 10.1016/j.jns.2014.03.034. Epub 2014 Mar 25.

PMID:
24713507
9.

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, Wei L, Zhang Y.

PLoS One. 2014 May 19;9(5):e97274. doi: 10.1371/journal.pone.0097274. eCollection 2014.

10.

ATP1A3-Related Neurologic Disorders.

Brashear A, Sweadner KJ, Cook JF, Swoboda KJ, Ozelius L.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 Feb 07 [updated 2014 Nov 06].

11.

Genotype-phenotype correlations in alternating hemiplegia of childhood.

Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S.

Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15.

PMID:
24431296
12.

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

Vila-Pueyo M, Pons R, Raspall-Chaure M, Marcé-Grau A, Carreño O, Sintas C, Cormand B, Pineda-Marfà M, Macaya A.

J Neurol Sci. 2014 Sep 15;344(1-2):37-42. doi: 10.1016/j.jns.2014.06.014. Epub 2014 Jun 17.

PMID:
24996492
13.

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Guimaraes J, Haake BC, Klein C, Linazasoro G, Münchau A, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ.

Brain. 2007 Mar;130(Pt 3):828-35. Epub 2007 Feb 4.

14.

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.

Boelman C, Lagman-Bartolome AM, MacGregor DL, McCabe J, Logan WJ, Minassian BA.

Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.

PMID:
25439493
15.

Asystole in alternating hemiplegia with de novo ATP1A3 mutation.

Novy J, McWilliams E, Sisodiya SM.

Eur J Med Genet. 2014 Jan;57(1):37-9. doi: 10.1016/j.ejmg.2013.11.003. Epub 2013 Nov 28.

PMID:
24291144
16.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J.

Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4.

17.

A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.

Weller CM, Leen WG, Neville BG, Duncan JS, de Vries B, Geilenkirchen MA, Haan J, Kamsteeg EJ, Ferrari MD, van den Maagdenberg AM, Willemsen MA, Scheffer H, Terwindt GM.

Cephalalgia. 2015 Jan;35(1):10-5. doi: 10.1177/0333102414532379. Epub 2014 May 13.

PMID:
24824604
18.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. Erratum in: PLoS One. 2015;10(8):e0137370.

19.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium.

Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5.

20.

Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

Wilcox R, Brænne I, Brüggemann N, Winkler S, Wiegers K, Bertram L, Anderson T, Lohmann K.

J Neurol. 2015 Jan;262(1):187-93. doi: 10.1007/s00415-014-7547-9. Epub 2014 Oct 31.

PMID:
25359261
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