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Journal Abstract Search

162 related items for PubMed ID: 37744437

  • 1. Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review.
    Pavone P, Striano P, Cacciaguerra G, Marino SD, Parano E, Pappalardo XG, Falsaperla R, Ruggieri M.
    Front Pediatr; 2023; 11():1210272. PubMed ID: 37744437
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  • 6. A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.
    Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.
    Brain Dev; 2018 Oct; 40(9):819-823. PubMed ID: 29907476
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  • 8. A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.
    Saidin A, Papazovska Cherepnalkovski A, Shaukat Z, Arsov T, Hussain R, Roberts BJ, Bucat M, Cogelja K, Ricos MG, Dibbens LM.
    Genes (Basel); 2024 Aug 05; 15(8):. PubMed ID: 39202391
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  • 9. Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
    Aiken J, Buscaglia G, Aiken AS, Moore JK, Bates EA.
    Cytoskeleton (Hoboken); 2020 Mar 05; 77(3-4):40-54. PubMed ID: 31574570
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bahi-Buisson N, Maillard C.
    ; 1993 Mar 05. PubMed ID: 27010057
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  • 11. Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy.
    Hung KL, Lu JF, Su DJ, Hsu SJ, Wang LC.
    Children (Basel); 2022 Jul 23; 9(8):. PubMed ID: 35892608
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  • 16. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
    Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Uyanik G, Rankin J, Rees MI, Pilz DT.
    Brain; 2013 Feb 23; 136(Pt 2):536-48. PubMed ID: 23361065
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  • 17. Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
    Zocchi R, Bellacchio E, Piccione M, Scardigli R, D'Oria V, Petrini S, Baranano K, Bertini E, Sferra A.
    Front Cell Neurosci; 2023 Feb 23; 17():1162363. PubMed ID: 37435044
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  • 19. Epilepsy in Tubulinopathy: Personal Series and Literature Review.
    Romaniello R, Zucca C, Arrigoni F, Bonanni P, Panzeri E, Bassi MT, Borgatti R.
    Cells; 2019 Jul 02; 8(7):. PubMed ID: 31269740
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  • 20. Optic nerve hypoplasia and bilateral persistent fetal vasculature due to TUBA1A tubulinopathy.
    Ramirez DA, Anninger WV, Scoles D.
    Retin Cases Brief Rep; 2023 Dec 15. PubMed ID: 38109746
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