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165 related items for PubMed ID: 26691732

  • 1. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.
    Passemard S, Verloes A, Billette de Villemeur T, Boespflug-Tanguy O, Hernandez K, Laurent M, Isidor B, Alberti C, Pouvreau N, Drunat S, Gérard B, El Ghouzzi V, Gallego J, Elmaleh-Bergès M, Huttner WB, Eliez S, Gressens P, Schaer M.
    Cortex; 2016 Jan; 74():158-76. PubMed ID: 26691732
    [Abstract] [Full Text] [Related]

  • 2. Autosomal recessive primary microcephaly due to ASPM mutations: An update.
    Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S.
    Hum Mutat; 2018 Mar; 39(3):319-332. PubMed ID: 29243349
    [Abstract] [Full Text] [Related]

  • 3. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
    Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Mégarbané A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A.
    Neurology; 2009 Sep 22; 73(12):962-9. PubMed ID: 19770472
    [Abstract] [Full Text] [Related]

  • 4. Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.
    Johnson MB, Sun X, Kodani A, Borges-Monroy R, Girskis KM, Ryu SC, Wang PP, Patel K, Gonzalez DM, Woo YM, Yan Z, Liang B, Smith RS, Chatterjee M, Coman D, Papademetris X, Staib LH, Hyder F, Mandeville JB, Grant PE, Im K, Kwak H, Engelhardt JF, Walsh CA, Bae BI.
    Nature; 2018 Apr 22; 556(7701):370-375. PubMed ID: 29643508
    [Abstract] [Full Text] [Related]

  • 5. Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.
    Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM.
    Am J Med Genet A; 2016 Aug 22; 170(8):2133-40. PubMed ID: 27250695
    [Abstract] [Full Text] [Related]

  • 6. A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.
    Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S.
    Ann Saudi Med; 2016 Aug 22; 36(6):391-396. PubMed ID: 27920410
    [Abstract] [Full Text] [Related]

  • 7. Longitudinal Diffusion Tensor Imaging Revealed Nerve Fiber Alterations in Aspm Mutated Microcephaly Model Mice.
    Ogi H, Nitta N, Tando S, Fujimori A, Aoki I, Fushiki S, Itoh K.
    Neuroscience; 2018 Feb 10; 371():325-336. PubMed ID: 29253521
    [Abstract] [Full Text] [Related]

  • 8. Disruption of Aspm causes microcephaly with abnormal neuronal differentiation.
    Fujimori A, Itoh K, Goto S, Hirakawa H, Wang B, Kokubo T, Kito S, Tsukamoto S, Fushiki S.
    Brain Dev; 2014 Sep 10; 36(8):661-9. PubMed ID: 24220505
    [Abstract] [Full Text] [Related]

  • 9. Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline.
    Pulvers JN, Bryk J, Fish JL, Wilsch-Bräuninger M, Arai Y, Schreier D, Naumann R, Helppi J, Habermann B, Vogt J, Nitsch R, Tóth A, Enard W, Pääbo S, Huttner WB.
    Proc Natl Acad Sci U S A; 2010 Sep 21; 107(38):16595-600. PubMed ID: 20823249
    [Abstract] [Full Text] [Related]

  • 10. Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease.
    Li R, Sun L, Fang A, Li P, Wu Q, Wang X.
    Protein Cell; 2017 Nov 21; 8(11):823-833. PubMed ID: 29058117
    [Abstract] [Full Text] [Related]

  • 11. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
    Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS.
    Mol Genet Genomic Med; 2020 Sep 21; 8(9):e1408. PubMed ID: 32677750
    [Abstract] [Full Text] [Related]

  • 12. Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.
    Kousar R, Nawaz H, Khurshid M, Ali G, Khan SU, Mir H, Ayub M, Wali A, Ali N, Jelani M, Basit S, Ahmad W, Ansar M.
    J Child Neurol; 2010 Jun 21; 25(6):715-20. PubMed ID: 19808985
    [Abstract] [Full Text] [Related]

  • 13. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.
    Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S.
    Clin Genet; 2014 Apr 21; 85(4):353-8. PubMed ID: 23611254
    [Abstract] [Full Text] [Related]

  • 14. ASPM mutations identified in patients with primary microcephaly and seizures.
    Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA.
    J Med Genet; 2005 Sep 21; 42(9):725-9. PubMed ID: 16141009
    [Abstract] [Full Text] [Related]

  • 15. Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly.
    Gul A, Tariq M, Khan MN, Hassan MJ, Ali G, Ahmad W.
    J Neurogenet; 2007 Sep 21; 21(3):153-63. PubMed ID: 17849285
    [Abstract] [Full Text] [Related]

  • 16. CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.
    Abdel-Hamid MS, Ismail MF, Darwish HA, Effat LK, Zaki MS, Abdel-Salam GM.
    Genet Couns; 2016 Sep 21; 27(1):25-33. PubMed ID: 27192889
    [Abstract] [Full Text] [Related]

  • 17. Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.
    Türkyılmaz A, Sager SG.
    Mol Syndromol; 2022 Feb 21; 13(1):56-63. PubMed ID: 35221876
    [Abstract] [Full Text] [Related]

  • 18. Many roads lead to primary autosomal recessive microcephaly.
    Kaindl AM, Passemard S, Kumar P, Kraemer N, Issa L, Zwirner A, Gerard B, Verloes A, Mani S, Gressens P.
    Prog Neurobiol; 2010 Mar 21; 90(3):363-83. PubMed ID: 19931588
    [Abstract] [Full Text] [Related]

  • 19. The molecular landscape of ASPM mutations in primary microcephaly.
    Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG.
    J Med Genet; 2009 Apr 21; 46(4):249-53. PubMed ID: 19028728
    [Abstract] [Full Text] [Related]

  • 20. Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.
    Saadi A, Borck G, Boddaert N, Chekkour MC, Imessaoudene B, Munnich A, Colleaux L, Chaouch M.
    Eur J Med Genet; 2009 Apr 21; 52(4):180-4. PubMed ID: 19332161
    [Abstract] [Full Text] [Related]

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