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Journal Abstract Search

164 related items for PubMed ID: 36835332

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  • 2. An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.
    Rogers EJ, Jada R, Schragenheim-Rozales K, Sah M, Cortes M, Florence M, Levy NS, Moss R, Walikonis RS, Palty R, Shalgi R, Lichtman D, Kavushansky A, Gerges NZ, Kahn I, Umanah GKE, Levy AP.
    Front Mol Neurosci; 2019; 12():43. PubMed ID: 30842726
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  • 4. Housing of A350V IQSEC2 pups at 37 °C ambient temperature prevents seizures and permits the development of social vocalizations in adulthood.
    Jada R, Zag L, Borisov V, Levy NS, Netser S, Jabarin R, Wagner S, Schragenheim-Rozales K, Shalgi R, Levy AP.
    Int J Hyperthermia; 2021; 38(1):1495-1501. PubMed ID: 34666607
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  • 5. Pharmacological modulation of AMPA receptors rescues specific impairments in social behavior associated with the A350V Iqsec2 mutation.
    Jabarin R, Levy N, Abergel Y, Berman JH, Zag A, Netser S, Levy AP, Wagner S.
    Transl Psychiatry; 2021 Apr 22; 11(1):234. PubMed ID: 33888678
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  • 15. Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.
    Shokhen M, Walikonis R, Uversky VN, Allbeck A, Zezelic C, Feldman D, Levy NS, Levy AP.
    J Biomol Struct Dyn; 2024 Apr 22; 42(3):1268-1279. PubMed ID: 37078745
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  • 16. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
    Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C.
    Genet Med; 2019 Apr 22; 21(4):837-849. PubMed ID: 30206421
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  • 19. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
    Barrie ES, Cottrell CE, Gastier-Foster J, Hickey SE, Patel AD, Santoro SL, Alfaro MP.
    Eur J Med Genet; 2020 Mar 22; 63(3):103735. PubMed ID: 31415821
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  • 20. The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
    Helm BM, Powis Z, Prada CE, Casasbuenas-Alarcon OL, Balmakund T, Schaefer GB, Kahler SG, Kaylor J, Winter S, Zarate YA, Schrier Vergano SA.
    Am J Med Genet A; 2017 Oct 22; 173(10):2814-2820. PubMed ID: 28815955
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