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DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Wang RT, Barthelemy F, Martin AS, Douine ED, Eskin A, Lucas A, Lavigne J, Peay H, Khanlou N, Sweeney L, Cantor RM, Miceli MC, Nelson SF. Wang RT, et al. Among authors: khanlou n. Hum Mutat. 2018 Sep;39(9):1193-1202. doi: 10.1002/humu.23561. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907980 Free PMC article.
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome.
Zhao Y, Wang LK, Eskin A, Kang X, Fajardo VM, Mehta Z, Pineles S, Schmidt RJ, Nagiel A, Satou G, Garg M, Federman M, Reardon LC, Lee SL, Biniwale R, Grody WW, Halnon N, Khanlou N, Quintero-Rivera F, Alejos JC, Nakano A, Fishbein GA, Van Arsdell GS, Nelson SF, Touma M. Zhao Y, et al. Among authors: khanlou n. J Mol Med (Berl). 2021 Nov;99(11):1623-1638. doi: 10.1007/s00109-021-02112-z. Epub 2021 Aug 13. J Mol Med (Berl). 2021. PMID: 34387706 Free PMC article.
Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy.
Yang JO, Shaybekyan H, Zhao Y, Kang X, Fishbein GA, Khanlou N, Alejos JC, Halnon N, Satou G, Biniwale R, Lee H, Van Arsdell G, Nelson SF, Touma M; UCLA Clinical Genomics Center; UCLA Congenital Heart Defects-BioCore Faculty. Yang JO, et al. Among authors: khanlou n. Front Cardiovasc Med. 2022 Jan 6;8:798985. doi: 10.3389/fcvm.2021.798985. eCollection 2021. Front Cardiovasc Med. 2022. PMID: 35071363 Free PMC article.
Hyaline protoplasmic astrocytopathy in epilepsy.
Magaki S, Haeri M, Szymanski LJ, Chen Z, Diaz R, Williams CK, Chang JW, Ao Y, Newell KL, Khanlou N, Yong WH, Fallah A, Salamon N, Daniel T, Cotter J, Hawes D, Sofroniew M, Vinters HV. Magaki S, et al. Among authors: khanlou n. Neuropathology. 2023 Dec;43(6):441-456. doi: 10.1111/neup.12909. Epub 2023 May 17. Neuropathology. 2023. PMID: 37198977 Review.
Neuropathologic Findings in Elderly HIV-Positive Individuals.
Magaki SD, Vinters HV, Williams CK, Mareninov S, Khanlou N, Said J, Nemanim N, Gonzalez J, Morales JG, Singer EJ, Yong WH. Magaki SD, et al. Among authors: khanlou n. J Neuropathol Exp Neurol. 2022 Jun 20;81(7):565-576. doi: 10.1093/jnen/nlac040. J Neuropathol Exp Neurol. 2022. PMID: 35656871 Free PMC article.
105 results