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Journal Abstract Search

311 related items for PubMed ID: 22633752

  • 1. Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.
    Okumura A, Hayashi M, Tsurui H, Yamakawa Y, Abe S, Kudo T, Suzuki R, Shimizu T, Shimojima K, Yamamoto T.
    Brain Dev; 2013 Mar; 35(3):274-9. PubMed ID: 22633752
    [Abstract] [Full Text] [Related]

  • 2. Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.
    Shimojima K, Narita A, Maegaki Y, Saito A, Furukawa T, Yamamoto T.
    BMC Res Notes; 2014 Jul 22; 7():465. PubMed ID: 25053001
    [Abstract] [Full Text] [Related]

  • 3. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
    Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I, LIS-Tubulinopathies Consortium, Beldjord C, Chelly J.
    Brain; 2014 Jun 22; 137(Pt 6):1676-700. PubMed ID: 24860126
    [Abstract] [Full Text] [Related]

  • 4. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
    Fallet-Bianco C, Loeuillet L, Poirier K, Loget P, Chapon F, Pasquier L, Saillour Y, Beldjord C, Chelly J, Francis F.
    Brain; 2008 Sep 22; 131(Pt 9):2304-20. PubMed ID: 18669490
    [Abstract] [Full Text] [Related]

  • 5. 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 22; 74(5):425-33. PubMed ID: 18954413
    [Abstract] [Full Text] [Related]

  • 6. TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation.
    Myers KA, Bello-Espinosa LE, Kherani A, Wei XC, Innes AM.
    Pediatr Neurol; 2015 Nov 22; 53(5):442-4. PubMed ID: 26294046
    [Abstract] [Full Text] [Related]

  • 7. Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia.
    Miyata H, Chute DJ, Fink J, Villablanca P, Vinters HV.
    Acta Neuropathol; 2004 Jan 22; 107(1):69-81. PubMed ID: 14566414
    [Abstract] [Full Text] [Related]

  • 8. TUBA1A mutation-associated lissencephaly: case report and review of the literature.
    Sohal AP, Montgomery T, Mitra D, Ramesh V.
    Pediatr Neurol; 2012 Feb 22; 46(2):127-31. PubMed ID: 22264709
    [Abstract] [Full Text] [Related]

  • 9. 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 22; 45(10):647-53. PubMed ID: 18728072
    [Abstract] [Full Text] [Related]

  • 10. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
    Rodríguez-García ME, Cotrina-Vinagre FJ, Gómez-Cano MLÁ, Martínez de Aragón A, Martín-Hernández E, Martínez-Azorín F.
    Am J Med Genet A; 2020 Jun 22; 182(6):1483-1490. PubMed ID: 32198973
    [Abstract] [Full Text] [Related]

  • 11. 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 22; 136(Pt 2):536-48. PubMed ID: 23361065
    [Abstract] [Full Text] [Related]

  • 12. Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.
    Abumansour IS, Wrogemann J, Chudley AE, Chodirker BN, Salman MS.
    J Child Neurol; 2014 Jun 22; 29(6):860-4. PubMed ID: 23625088
    [Abstract] [Full Text] [Related]

  • 13. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
    Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH.
    PLoS Genet; 2013 Jun 22; 9(10):e1003823. PubMed ID: 24098143
    [Abstract] [Full Text] [Related]

  • 14. Lissencephaly and microencephaly combined with hypoplasia of corpus callosum and cerebellum in a domestic cat.
    Herrmann A, Hecht W, Herden C.
    Tierarztl Prax Ausg K Kleintiere Heimtiere; 2011 Jun 22; 39(2):116-20. PubMed ID: 22143590
    [No Abstract] [Full Text] [Related]

  • 15. Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy.
    Sarnat HB, Benjamin DR, Siebert JR, Kletter GB, Cheyette SR.
    Pediatr Dev Pathol; 2002 Jun 22; 5(1):54-68. PubMed ID: 11815869
    [Abstract] [Full Text] [Related]

  • 16. 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 22; 28(11):1055-64. PubMed ID: 17584854
    [Abstract] [Full Text] [Related]

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  • 18. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
    Fallet-Bianco C, Laquerrière A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonnière M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N.
    Acta Neuropathol Commun; 2014 Jul 25; 2():69. PubMed ID: 25059107
    [Abstract] [Full Text] [Related]

  • 19. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
    Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA.
    Neuron; 2018 Dec 19; 100(6):1354-1368.e5. PubMed ID: 30449657
    [Abstract] [Full Text] [Related]

  • 20. Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep.
    Suárez-Vega A, Gutiérrez-Gil B, Cuchillo-Ibáñez I, Sáez-Valero J, Pérez V, García-Gámez E, Benavides J, Arranz JJ.
    PLoS One; 2013 Dec 19; 8(11):e81072. PubMed ID: 24260534
    [Abstract] [Full Text] [Related]

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