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Journal Abstract Search

177 related items for PubMed ID: 37057295

  • 1. SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2.
    Langford J, Vukadin L, Carey JC, Botto LD, Velinder M, Mao R, Miller CE, Filloux F, Ahn EE.
    Neurol Genet; 2023 Jun; 9(3):e200062. PubMed ID: 37057295
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  • 2. Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study.
    Riant F, Roos C, Roubertie A, Barbance C, Hadjadj J, Auvin S, Baille G, Beltramone M, Boulanger C, Cahn A, Cata F, Cheuret E, Cuvellier JC, Defo A, Demarquay G, Donnet A, Gaillard N, Massardier E, Guy N, Lamoureux S, Le Moigno L, Lucas C, Ratiu D, Redon S, Rey C, Thauvin C, Viallet F, Tournier-Lasserve E, Ducros A.
    Neurology; 2022 Jan 04; 98(1):e51-e61. PubMed ID: 34649875
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  • 3. Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series.
    El-Said A, Morales JL, Rossi G, Longani N.
    Neurol Genet; 2023 Jun 04; 9(3):e200072. PubMed ID: 37168776
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  • 4. Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
    Ueda M, Matsuki T, Fukada M, Eda S, Toya A, Iio A, Tabata H, Nakayama A.
    Mol Brain; 2020 May 24; 13(1):80. PubMed ID: 32448361
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  • 8. A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.
    Yang L, Yang F.
    Mol Genet Genomic Med; 2020 Nov 24; 8(11):e1496. PubMed ID: 32926520
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  • 9. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
    Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R.
    Mol Genet Genomic Med; 2020 Oct 24; 8(10):e1432. PubMed ID: 32705777
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  • 12. A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.
    Tan Y, Duan L, Yang K, Liu Q, Wang J, Dong Z, Li Z, He Y, Yan Y, Lin L.
    J Clin Lab Anal; 2020 Aug 24; 34(8):e23326. PubMed ID: 32291808
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  • 13. Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
    Vasquez-Forero DM, Masotto B, Ferrer-Avargues R, Moya CM, Pachajoa H.
    Front Genet; 2023 Aug 24; 14():1183362. PubMed ID: 37476413
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  • 18. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.
    Quintana Castanedo L, Sánchez Orta A, Maseda Pedrero R, Santos Simarro F, Palomares Bralo M, Feito Rodríguez M, de Lucas Laguna R.
    Pediatr Dermatol; 2020 May 24; 37(3):517-519. PubMed ID: 32045494
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  • 19. Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine.
    Dias A, Santos M, Carvalho E, Felício D, Silva P, Alves I, Pinho T, Sousa A, Alves-Ferreira M, Lemos C.
    Clin Genet; 2023 Oct 24; 104(4):479-485. PubMed ID: 37243399
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  • 20. Anesthesia of the Patient with Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Report.
    Hudec J, Kosinova M.
    Children (Basel); 2022 Jun 11; 9(6):. PubMed ID: 35740806
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