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Journal Abstract Search

143 related items for PubMed ID: 30585108

  • 41. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
    Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J.
    J Med Genet; 2008 Oct; 45(10):647-53. PubMed ID: 18728072
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  • 42. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
    Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T.
    Eur J Paediatr Neurol; 2020 May; 26():46-60. PubMed ID: 32169460
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  • 43. Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.
    Romaniello R, Arrigoni F, Cavallini A, Tenderini E, Baschirotto C, Triulzi F, Bassi MT, Borgatti R.
    Dev Med Child Neurol; 2014 Apr; 56(4):354-60. PubMed ID: 24392928
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  • 44. Familial pachygyria in both genders related to a DCX mutation.
    Kim YO, Nam TS, Park C, Kim SK, Yoon W, Choi SY, Kim MK, Woo YJ.
    Brain Dev; 2016 Jun; 38(6):585-9. PubMed ID: 26743950
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  • 45. [Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
    Bahi-Buisson N, Boddaert N, Saillour Y, Souville I, Poirier K, Léger PL, Castelnau L, Plouin P, Carion N, Beldjord C, Chelly J.
    Rev Neurol (Paris); 2008 Dec; 164(12):995-1009. PubMed ID: 18808783
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  • 46. TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia.
    Geiger JT, Schindler AB, Blauwendraat C, Singer HS, Scholz SW.
    Case Rep Neurol; 2017 Dec; 9(2):216-221. PubMed ID: 28966590
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  • 47. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
    Kooshavar D, Amor DJ, Boggs K, Baker N, Barnett C, de Silva MG, Edwards S, Fahey MC, Marum JE, Snell P, Bozaoglu K, Pope K, Mohammad SS, Riney K, Sachdev R, Scheffer IE, Schenscher S, Silberstein J, Smith N, Tom M, Ware TL, Lockhart PJ, Leventer RJ.
    Brain Commun; 2024 Dec; 6(2):fcae056. PubMed ID: 38444904
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  • 48. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
    Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J.
    Hum Mutat; 2007 Nov; 28(11):1055-64. PubMed ID: 17584854
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  • 49. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
    Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G.
    Clin Genet; 2008 Nov; 74(5):425-33. PubMed ID: 18954413
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  • 54. Two different prenatal imaging cerebral patterns of tubulinopathy.
    Cabet S, Karl K, Garel C, Delius M, Hartung J, Lesca G, Chaoui R, Guibaud L.
    Ultrasound Obstet Gynecol; 2021 Mar; 57(3):493-497. PubMed ID: 32149430
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  • 55. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
    Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA, Polymicrogyria Genetics Research Network.
    JAMA Neurol; 2023 Sep 01; 80(9):980-988. PubMed ID: 37486637
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