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Journal Abstract Search

180 related items for PubMed ID: 33728335

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  • 3. TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
    Ivanova EL, Gilet JG, Sulimenko V, Duchon A, Rudolf G, Runge K, Collins SC, Asselin L, Broix L, Drouot N, Tilly P, Nusbaum P, Vincent A, Magnant W, Skory V, Birling MC, Pavlovic G, Godin JD, Yalcin B, Hérault Y, Dráber P, Chelly J, Hinckelmann MV.
    Nat Commun; 2019 May 13; 10(1):2129. PubMed ID: 31086189
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  • 4. Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
    Michels S, Foss K, Park K, Golden-Grant K, Saneto R, Lopez J, Mirzaa GM.
    Am J Med Genet A; 2017 Dec 13; 173(12):3127-3131. PubMed ID: 29048727
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  • 5. Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case.
    Srivastava P, Swaroop S, Diwakar K, Jaiswal A, Singh M.
    Cureus; 2024 Jun 13; 16(6):e62749. PubMed ID: 38912084
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  • 6. Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
    Hatano M, Fukushima H, Ohto T, Ueno Y, Saeki S, Enokizono T, Tanaka R, Tanaka M, Imagawa K, Kanai Y, Kato M, Shiraku H, Suzuki H, Uehara T, Takenouchi T, Kosaki K, Takada H.
    Am J Med Genet A; 2021 Apr 13; 185(4):1113-1119. PubMed ID: 33506645
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  • 8. Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.
    Mencarelli A, Prontera P, Stangoni G, Mencaroni E, Principi N, Esposito S.
    Int J Mol Sci; 2017 Oct 29; 18(11):. PubMed ID: 29109381
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  • 9. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
    Yang S, Wu L, Liao H, Lu X, Zhang X, Kuang X, Yang L.
    Neurogenetics; 2021 Oct 29; 22(4):323-332. PubMed ID: 34370157
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  • 10. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
    Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A.
    Am J Med Genet A; 2020 Aug 29; 182(8):1977-1984. PubMed ID: 32573066
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  • 11. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
    Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J.
    Nat Genet; 2013 Jun 29; 45(6):639-47. PubMed ID: 23603762
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  • 12. SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation.
    Zaman T, Helbig KL, Clatot J, Thompson CH, Kang SK, Stouffs K, Jansen AE, Verstraete L, Jacquinet A, Parrini E, Guerrini R, Fujiwara Y, Miyatake S, Ben-Zeev B, Bassan H, Reish O, Marom D, Hauser N, Vu TA, Ackermann S, Spencer CE, Lippa N, Srinivasan S, Charzewska A, Hoffman-Zacharska D, Fitzpatrick D, Harrison V, Vasudevan P, Joss S, Pilz DT, Fawcett KA, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM.
    Ann Neurol; 2020 Aug 29; 88(2):348-362. PubMed ID: 32515017
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  • 13. A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
    Markus F, Kannengießer A, Näder P, Atigbire P, Scholten A, Vössing C, Bültmann E, Korenke GC, Owczarek-Lipska M, Neidhardt J.
    J Hum Genet; 2021 Dec 29; 66(12):1159-1167. PubMed ID: 34211111
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  • 14. Tubulin genes and malformations of cortical development.
    Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD.
    Eur J Med Genet; 2018 Dec 29; 61(12):744-754. PubMed ID: 30016746
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  • 15. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
    Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, Care4Rare Canada Consortium, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC.
    Eur J Hum Genet; 2021 May 29; 29(5):816-826. PubMed ID: 33649541
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  • 16. Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.
    Zhang X, Wang Y, Yang F, Tang J, Xu X, Yang L, Yang XA, Wu D.
    J Mol Neurosci; 2020 Jan 29; 70(1):1-8. PubMed ID: 31428919
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  • 17. Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
    Vegas N, Cavallin M, Kleefstra T, de Boer L, Philbert M, Maillard C, Boddaert N, Munnich A, Hubert L, Bery A, Besmond C, Bahi-Buisson N.
    Eur J Med Genet; 2018 Dec 29; 61(12):759-764. PubMed ID: 30268909
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  • 18. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.
    Trinh J, Kandaswamy KK, Werber M, Weiss MER, Oprea G, Kishore S, Lohmann K, Rolfs A.
    J Neurodev Disord; 2019 Jun 25; 11(1):11. PubMed ID: 31238879
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  • 19. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    Moudi M, Vahidi Mehrjardi MY, Hozhabri H, Metanat Z, Kalantar SM, Taheri M, Ghasemi N, Dehghani M.
    J Clin Lab Anal; 2022 Feb 25; 36(2):e24241. PubMed ID: 35019165
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  • 20. Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.
    Jin L, Li Y, Luo S, Peng Q, Zhai QX, Zhai JX, Gao LD, Guo JJ, Song W, Yi YH, He N, Chen YJ.
    Seizure; 2024 Mar 25; 116():87-92. PubMed ID: 38523034
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