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• De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

  Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA, Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M, Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y, Bellen HJ. Lu S, et al. Am J Hum Genet. 2022 Oct 6;109(10):1932-1943. doi: 10.1016/j.ajhg.2022.09.005. Am J Hum Genet. 2022. PMID: 36206744 Free PMC article.
• Willin/FRMD6 Influences Mechanical Phenotype and Neuronal Differentiation in Mammalian Cells by Regulating ERK1/2 Activity.

  Kronenberg NM, Tilston-Lunel A, Thompson FE, Chen D, Yu W, Dholakia K, Gather MC, Gunn-Moore FJ. Kronenberg NM, et al. Front Cell Neurosci. 2020 Sep 4;14:552213. doi: 10.3389/fncel.2020.552213. eCollection 2020. Front Cell Neurosci. 2020. PMID: 33088261 Free PMC article.
• Binding of the merlin-I product of the neurofibromatosis type 2 tumour suppressor gene to a novel site in beta-fodrin is regulated by association between merlin domains.

  Neill GW, Crompton MR. Neill GW, et al. Biochem J. 2001 Sep 15;358(Pt 3):727-35. doi: 10.1042/0264-6021:3580727. Biochem J. 2001. PMID: 11535133 Free PMC article.
• Vezatin, a novel transmembrane protein, bridges myosin VIIA to the cadherin-catenins complex.

  Küssel-Andermann P, El-Amraoui A, Safieddine S, Nouaille S, Perfettini I, Lecuit M, Cossart P, Wolfrum U, Petit C. Küssel-Andermann P, et al. EMBO J. 2000 Nov 15;19(22):6020-9. doi: 10.1093/emboj/19.22.6020. EMBO J. 2000. PMID: 11080149 Free PMC article.
• The JAK-STAT Signaling Pathway in Epilepsy.

  Sun H, Ma D, Cheng Y, Li J, Zhang W, Jiang T, Li Z, Li X, Meng H. Sun H, et al. Curr Neuropharmacol. 2023;21(10):2049-2069. doi: 10.2174/1570159X21666221214170234. Curr Neuropharmacol. 2023. PMID: 36518035 Free PMC article. Review.