13 results for author:"Pelin K." in Literature citations
Results Customize
› Repeat search in UniProtKB (10)
| Expression of multiple nebulin isoforms in human skeletal muscle and brain. Laitila J., Hanif M., Paetau A., Hujanen S., Keto J., Somervuo P., Huovinen S., Udd B., Wallgren-Pettersson C., Auvinen P. et al. Muscle Nerve 46:730-737(2012) · Mapped (14) |
| Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Lehtokari V.L., Pelin K., Herczegfalvi A., Karcagi V., Pouget J., Franques J., Pellissier J.F., Figarella-Branger D., von der Hagen M., Huebner A. et al. Neuromuscul. Disord. 21:556-562(2011) · Mapped (14) |
| The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Lehtokari V.L., Greenleaf R.S., DeChene E.T., Kellinsalmi M., Pelin K., Laing N.G., Beggs A.H., Wallgren-Pettersson C. Neuromuscul. Disord. 19:179-181(2009) · Mapped (14) |
| Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Lehtokari V.L., Pelin K., Donner K., Voit T., Rudnik-Schoneborn S., Stoetter M., Talim B., Topaloglu H., Laing N.G., Wallgren-Pettersson C. Eur. J. Hum. Genet. 16:1055-1061(2008) · Mapped (14) |
| Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Lehtokari V.L., Pelin K., Sandbacka M., Ranta S., Donner K., Muntoni F., Sewry C., Angelini C., Bushby K., Van den Bergh P. et al. Hum. Mutat. 27:946-956(2006) · Mapped (14) |
| Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Wallgren-Pettersson C., Donner K., Sewry C., Bijlsma E., Lammens M., Bushby K., Giovannucci Uzielli M.L., Lapi E., Odent S., Akcoren Z. et al. Neuromuscul. Disord. 12:674-679(2002) · Mapped (14) |
| Mutations in the beta-tropomyosin (TPM2) gene -- a rare cause of nemaline myopathy. Donner K., Ollikainen M., Ridanpaeae M., Christen H.J., Goebel H.H., de Visser M., Pelin K., Wallgren-Pettersson C. Neuromuscul. Disord. 12:151-158(2002) · UniProtKB (1) |
| Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain. Centner T., Yano J., Kimura E., McElhinny A.S., Pelin K., Witt C.C., Bang M.-L., Trombitas K., Granzier H., Gregorio C.C. et al. J. Mol. Biol. 306:717-726(2001) · UniProtKB (3) |
| Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Jungbluth H., Sewry C.A., Brown S.C., Nowak K.J., Laing N.G., Wallgren-Pettersson C., Pelin K., Manzur A.Y., Mercuri E., Dubowitz V. et al. Neuromuscul. Disord. 11:35-40(2001) · UniProtKB (1) |
| Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nowak K.J., Wattanasirichaigoon D., Goebel H.H., Wilce M., Pelin K., Donner K., Jacob R.L., Hubner C., Oexle K., Anderson J.R. et al. Nat. Genet. 23:208-212(1999) · UniProtKB (1) |
| Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Pelin K., Hilpelae P., Donner K., Sewry C., Akkari P.A., Wilton S.D., Wattanasirichaigoon D., Bang M.-L., Centner T., Hanefeld F. et al. Proc. Natl. Acad. Sci. U.S.A. 96:2305-2310(1999) · UniProtKB (2) |
| Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs. Millevoi S., Trombitas K., Kolmerer B., Kostin S., Schaper J., Pelin K., Granzier H., Labeit S. J. Mol. Biol. 282:111-123(1998) · UniProtKB (2) |
| A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Hemminki A., Markie D., Tomlinson I., Avizienyte E., Roth S., Loukola A., Bignell G., Warren W., Aminoff M., Hoeglund P. et al. |