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Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
Lazar CH, Kimchi A, Namburi P, Mutsuddi M, Zelinger L, Beryozkin A, Ben-Simhon S, Obolensky A, Ben-Neriah Z, Argov Z, Pikarsky E, Fellig Y, Marks-Ohana D, Ratnapriya R, Banin E, Sharon D, Swaroop A. Lazar CH, et al. Among authors: argov z. Hum Mutat. 2015 Sep;36(9):836-41. doi: 10.1002/humu.22822. Epub 2015 Jul 14. Hum Mutat. 2015. PMID: 26077327 Free PMC article.
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Tajsharghi H, Hammans S, Lindberg C, Lossos A, Clarke NF, Mazanti I, Waddell LB, Fellig Y, Foulds N, Katifi H, Webster R, Raheem O, Udd B, Argov Z, Oldfors A. Tajsharghi H, et al. Among authors: argov z. Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193343 Free PMC article.
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.
Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H. Lossos A, et al. Among authors: argov z. Arch Neurol. 2006 Feb;63(2):278-80. doi: 10.1001/archneur.63.2.278. Arch Neurol. 2006. PMID: 16476818 Free PMC article.
Variable phenotypes of knockin mice carrying the M712T Gne mutation.
Sela I, Yakovlev L, Becker Cohen M, Elbaz M, Yanay N, Ben Shlomo U, Yotvat H, Fellig Y, Argov Z, Mitrani-Rosenbaum S. Sela I, et al. Among authors: argov z. Neuromolecular Med. 2013 Mar;15(1):180-91. doi: 10.1007/s12017-012-8209-7. Epub 2012 Dec 13. Neuromolecular Med. 2013. PMID: 23238814
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Lamont PJ, et al. Among authors: argov z. Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24664454 Free PMC article.
173 results