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Retinoblastoma versus advanced Coats' disease: Is enucleation the answer?
Soliman SE, Wan MJ, Heon E, Hazrati LN, Gallie B. Soliman SE, et al. Among authors: hazrati ln. Ophthalmic Genet. 2017 May-Jun;38(3):291-293. doi: 10.1080/13816810.2016.1199715. Epub 2016 Jul 19. Ophthalmic Genet. 2017. PMID: 27435805 No abstract available.
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z. Leveille E, et al. Among authors: hazrati ln. Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31. Mol Genet Genomic Med. 2018. PMID: 30381913 Free PMC article.
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Nimmo GAM, Venkatesh S, Pandey AK, Marshall CR, Hazrati LN, Blaser S, Ahmed S, Cameron J, Singh K, Ray PN, Suzuki CK, Yoon G. Nimmo GAM, et al. Among authors: hazrati ln. Hum Mol Genet. 2019 Jan 15;28(2):290-306. doi: 10.1093/hmg/ddy351. Hum Mol Genet. 2019. PMID: 30304514 Free PMC article.
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Alkhunaizi E, et al. Among authors: hazrati ln. Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16. Am J Med Genet A. 2019. PMID: 30652412
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.
Al Amrani F, Gorodetsky C, Hazrati LN, Amburgey K, Gonorazky HD, Dowling JJ. Al Amrani F, et al. Among authors: hazrati ln. Neurol Genet. 2020 Apr 13;6(3):e423. doi: 10.1212/NXG.0000000000000423. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32426512 Free PMC article. No abstract available.
125 results