14 results for author:"Fidzianska A." in Literature citations
Results Customize
› Repeat search in UniProtKB (8)
| Late form of Pompe disease with glycogen storage in peripheral nerves axons. Fidzianska A., Lugowska A., Tylki-Szymanska A. J. Neurol. Sci. 301:59-62(2011) · UniProtKB (1) |
| Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption. Gupta P., Bilinska Z.T., Sylvius N., Boudreau E., Veinot J.P., Labib S., Bolongo P.M., Hamza A., Jackson T., Ploski R. et al. Basic Res. Cardiol. 105:365-377(2010) · Mapped (11) |
| TPM3 mutation in one of the original cases of cap disease. Ohlsson M., Fidzianska A., Tajsharghi H., Oldfors A. Neurology 72:1961-1963(2009) · Mapped (19) |
| Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation. Fidzianska A., Bilinska Z.T., Tesson F., Wagner T., Walski M., Grzybowski J., Ruzyllo W., Hausmanowa-Petrusewicz I. J. Neurol. Sci. 271:91-96(2008) · Mapped (11) |
| Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation. Madej-Pilarczyk A., Kmiec T., Fidzianska A., Rekawek J., Niebroj-Dobosz I., Turska-Kmiec A., Nestorowicz K., Jozwiak S., Hausmanowa-Petrusewicz I. Eur. J. Paediatr. Neurol. 12:427-430(2008) · Mapped (11) |
| Evaluation of desmin activity using immunohistochemical and immunofluorescent staining of myocardial biopsies in patients with chronic heart failure. Comparison of the two methods. Pawlak A., Gil R.J., Walczak E., Fidzianska A. Kardiol Pol 65:229-235(2007) · Mapped (13) |
| Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies. Bilinska Z.T., Sylvius N., Grzybowski J., Fidzianska A., Michalak E., Walczak E., Walski M., Bieganowska K., Szymaniak E., Kusmierczyk-Droszcz B. et al. Kardiol Pol 64:812-819(2006) · Mapped (11) |
| Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy. Fidzianska A., Glinka Z. Acta Neuropathol. 112:185-193(2006) · Mapped (16) |
| IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit. Fidzianska A., Ryniewicz B., Shen X.M., Engel A.G. Neuromuscul. Disord. 15:753-759(2005) · Mapped (2) |
| In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. Sylvius N., Bilinska Z.T., Veinot J.P., Fidzianska A., Bolongo P.M., Poon S., McKeown P., Davies R.A., Chan K.-L., Tang A.S.L. et al. J. Med. Genet. 42:639-647(2005) · UniProtKB (4) |
| A novel desmin R355P mutation causes cardiac and skeletal myopathy. Fidzianska A., Kotowicz J., Sadowska M., Goudeau B., Walczak E., Vicart P., Hausmanowa-Petrusewicz I. Neuromuscul. Disord. 15:525-531(2005) · UniProtKB (1) · Mapped (12) |
| Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Kaminska A., Strelkov S.V., Goudeau B., Olive M., Dagvadorj A., Fidzianska A., Simon-Casteras M., Shatunov A., Dalakas M.C., Ferrer I. et al. Hum. Genet. 114:306-313(2004) · UniProtKB (1) |
| Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). Tristani-Firouzi M., Jensen J.L., Donaldson M.R., Sansone V., Meola G., Hahn A., Bendahhou S., Kwiecinski H., Fidzianska A., Plaster N. et al. J. Clin. Invest. 110:381-388(2002) · UniProtKB (1) |
| A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. Goldberg L.R., Hausmanowa-Petrusewicz I., Fidzianska A., Duggan D.J., Steinberg L.S., Hoffman E.P. Ann. Neurol. 44:971-976(1998) · UniProtKB (1) |