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Page 1
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: narayanappa g. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene.
Nagappa M, Bindu PS, Chiplunkar S, Govindaraj P, Narayanappa G, Krishnan A, Bharath MM, Swaminathan A, Saini J, Arvinda HR, Sinha S, Mathuranath PS, Taly AB. Nagappa M, et al. Among authors: narayanappa g. Brain Dev. 2017 Feb;39(2):161-165. doi: 10.1016/j.braindev.2016.08.005. Epub 2016 Sep 3. Brain Dev. 2017. PMID: 27596361
Infective myositis.
Narayanappa G, Nandeesh BN. Narayanappa G, et al. Brain Pathol. 2021 May;31(3):e12950. doi: 10.1111/bpa.12950. Brain Pathol. 2021. PMID: 34043257 Free PMC article. Review.
A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.
Santhoshkumar R, Preethish-Kumar V, Polavarapu K, Reghunathan D, Chaudhari S, Satyamoorthy K, Vengalil S, Nashi S, Faruq M, Joshi A, Atchayaram N, Narayanappa G. Santhoshkumar R, et al. Among authors: narayanappa g. J Mol Neurosci. 2021 Dec;71(12):2468-2473. doi: 10.1007/s12031-021-01856-0. Epub 2021 Jun 9. J Mol Neurosci. 2021. PMID: 34106405
37 results