15 results for author:"Fananapazir L." in Literature citations
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| Modification of human hearing loss by plasma-membrane calcium pump PMCA2. Schultz J.M., Yang Y., Caride A.J., Filoteo A.G., Penheiter A.R., Lagziel A., Morell R.J., Mohiddin S.A., Fananapazir L., Madeo A.C. et al. N. Engl. J. Med. 352:1557-1564(2005) · UniProtKB (1) |
| Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. Ivanov S.V., Ward J.M., Tessarollo L., McAreavey D., Sachdev V., Fananapazir L., Banks M.K., Morris N., Djurickovic D., Devor-Henneman D.E. et al. Am. J. Pathol. 165:1007-1018(2004) · UniProtKB (1) · Mapped (5) |
| Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6). Mohiddin S.A., Ahmed Z.M., Griffith A.J., Tripodi D., Friedman T.B., Fananapazir L., Morell R.J. J. Med. Genet. 41:309-314(2004) · UniProtKB (1) |
| Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations. Mohiddin S.A., Begley D.A., McLam E., Cardoso J.-P., Winkler J.B., Sellers J.R., Fananapazir L. |
| Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle. Mohiddin S.A., Lu S., Cardoso J.-P., Carroll S., Jha S., Horowits R., Fananapazir L. Cell Motil. Cytoskeleton 55:200-212(2003) · UniProtKB (2) · Mapped (4) |
| Mutations of MYO6 are associated with recessive deafness, DFNB37. Ahmed Z.M., Morell R.J., Riazuddin S., Gropman A., Shaukat S., Ahmad M.M., Mohiddin S.A., Fananapazir L., Caruso R.C., Husnain T. et al. Am. J. Hum. Genet. 72:1315-1322(2003) · UniProtKB (1) · Mapped (2) |
| Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Dobson-Stone C., Danek A., Rampoldi L., Hardie R.J., Chalmers R.M., Wood N.W., Bohlega S., Dotti M.T., Federico A., Shizuka M. et al. Eur. J. Hum. Genet. 10:773-781(2002) · UniProtKB (1) |
| Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. Gollob M.H., Green M.S., Tang A.S.-L., Gollob T., Karibe A., Al Sayegh A.H., Ahmad F., Lozado R., Shah G., Fananapazir L. et al. N. Engl. J. Med. 344:1823-1831(2001) · UniProtKB (1) |
| Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis. Karibe A., Tobacman L.S., Strand J., Butters C., Back N., Bachinski L.L., Arai A.E., Ortiz A., Roberts R., Homsher E. et al. Circulation 103:65-71(2001) |
| Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. Olson T.M., Doan T.P., Kishimoto N.Y., Whitby F.G., Ackerman M.J., Fananapazir L. J. Mol. Cell. Cardiol. 32:1687-1694(2000) · UniProtKB (1) |
| Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., Epstein N.D. Nat. Genet. 13:63-69(1996) · UniProtKB (2) |
| Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. Cuda G., Fananapazir L., Zhu W.S., Sellers J.R., Epstein N.D. J. Clin. Invest. 91:2861-2865(1993) · UniProtKB (1) |
| Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Fananapazir L., Dalakas M.C., Cyran F., Cohn G., Epstein N.D. Proc. Natl. Acad. Sci. U.S.A. 90:3993-3997(1993) · UniProtKB (1) |
| Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Rayment I., Holden H.M., Sellers J.R., Fananapazir L., Epstein N.D. Proc. Natl. Acad. Sci. U.S.A. 92:3864-3868(1995) · UniProtKB (1) |
| Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu-->Val mutation and a 403Arg-->Gln mutation. Epstein N.D., Cohn G.M., Cyran F., Fananapazir L. Circulation 86:345-352(1992) · UniProtKB (1) |