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Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.
Ge X, Gong H, Dumas K, Litwin J, Phillips JJ, Waisfisz Q, Weiss MM, Hendriks Y, Stuurman KE, Nelson SF, Grody WW, Lee H, Kwok PY, Shieh JT. Ge X, et al. Among authors: litwin j. NPJ Genom Med. 2016;1:16036-. doi: 10.1038/npjgenmed.2016.36. Epub 2016 Oct 5. NPJ Genom Med. 2016. PMID: 28868155 Free PMC article.
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, Gavrilova R, Genetti CA, Hiatt SM, Hildebrandt F, Wojcik MH, Kleefstra T, Kolvenbach CM, Korf BR, Kruszka P, Li H, Litwin J, Marcadier J, Platzer K, Blackburn PR, Reijnders MRF, Reutter H, Schanze I, Shieh JT, Stevens CA, Valivullah Z, van den Boogaard MJ, Klee EW, Campeau PM. Borroto MC, et al. Among authors: litwin j. Genes (Basel). 2024 Aug 6;15(8):1033. doi: 10.3390/genes15081033. Genes (Basel). 2024. PMID: 39202393 Free PMC article.
Neck-Tongue syndrome: A systematic review.
Gelfand AA, Johnson H, Lenaerts ME, Litwin JR, De Mesa C, Bogduk N, Goadsby PJ. Gelfand AA, et al. Among authors: litwin jr. Cephalalgia. 2018 Feb;38(2):374-382. doi: 10.1177/0333102416681570. Epub 2017 Jan 18. Cephalalgia. 2018. PMID: 28100071
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA. Kang SK, et al. Among authors: litwin j. Ann Neurol. 2019 Dec;86(6):899-912. doi: 10.1002/ana.25607. Epub 2019 Oct 24. Ann Neurol. 2019. PMID: 31600826 Free PMC article.
Histopatological parameters of the spinal cord in different phases of experimental autoimmune encephalomyelitis. A mouse model of multiple sclerosis examined by classical stainings combined with immunohistochemistry.
Pyka-Fosciak G, Fosciak M, Wojcik B, Lis GJ, Litwin JA. Pyka-Fosciak G, et al. Among authors: litwin ja. J Physiol Pharmacol. 2023 Aug;74(4). doi: 10.26402/jpp.2023.4.09. Epub 2023 Oct 16. J Physiol Pharmacol. 2023. PMID: 37865962 Free article.
Changes in stiffness of the optic nerve and involvement of neurofilament light chains in the course of experimental autoimmune encephalomyelitis, an animal model of multiple sclerosis.
Pyka-Fościak G, Fościak M, Pabijan J, Lis GJ, Litwin JA, Lekka M. Pyka-Fościak G, et al. Among authors: litwin ja. Biochim Biophys Acta Mol Basis Dis. 2023 Oct;1869(7):166796. doi: 10.1016/j.bbadis.2023.166796. Epub 2023 Jul 1. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37400000 Free article.
269 results