10 results for author:"Stoltenburg-Didinger G." in Literature citations
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| Novel RYR1 missense mutation causes core rod myopathy. von der Hagen M., Kress W., Hahn G., Brocke K.S., Mitzscherling P., Huebner A., Muller-Reible C., Stoltenburg-Didinger G., Kaindl A.M. Eur. J. Neurol. 15:E31-E32(2008) · UniProtKB (1) · Mapped (5) |
| Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. Mouchegh K., Zikanova M., Hoffmann G.F., Kretzschmar B., Kuhn T., Mildenberger E., Stoltenburg-Didinger G., Krijt J., Dvorakova L., Honzik T. et al. J. Pediatr. 150:57-61.e2(2007) · Mapped (5) |
| Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndrome. Huebner A., Mann P., Rohde E., Kaindl A.M., Witt M., Verkade P., Jakubiczka S., Menschikowski M., Stoltenburg-Didinger G., Koehler K. Mol. Cell. Biol. 26:1879-1887(2006) · Mapped (4) |
| Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. Kaindl A.M., Jakubiczka S., Lucke T., Bartsch O., Weis J., Stoltenburg-Didinger G., Aksu F., Oexle K., Koehler K., Huebner A. Hum. Mutat. 26:279-280(2005) · Mapped (4) |
| Increased mRNA expression of tissue inhibitors of metalloproteinase-1 and -2 in Duchenne muscular dystrophy. von Moers A., Zwirner A., Reinhold A., Bruckmann O., van Landeghem F., Stoltenburg-Didinger G., Schuppan D., Herbst H., Schuelke M. Acta Neuropathol. 109:285-293(2005) · Mapped (12) |
| Missense mutations of ACTA1 cause dominant congenital myopathy with cores. Kaindl A.M., Rueschendorf F., Krause S., Goebel H.-H., Koehler K., Becker C., Pongratz D., Mueller-Hoecker J., Nuernberg P., Stoltenburg-Didinger G. et al. J. Med. Genet. 41:842-848(2004) · UniProtKB (1) · Mapped (3) |
| Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). Grohmann K., Rossoll W., Kobsar I., Holtmann B., Jablonka S., Wessig C., Stoltenburg-Didinger G., Fischer U., Hubner C., Martini R. et al. Hum. Mol. Genet. 13:2031-2042(2004) · Mapped (3) |
| Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Uhlenberg B., Schuelke M., Rueschendorf F., Ruf N., Kaindl A.M., Henneke M., Thiele H., Stoltenburg-Didinger G., Aksu F., Topaloglu H. et al. Am. J. Hum. Genet. 75:251-260(2004) · UniProtKB (1) |
| Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Kerst B., Mennerich D., Schuelke M., Stoltenburg-Didinger G., von Moers A., Gossrau R., van Landeghem F.K.H., Speer A., Braun T., Huebner C. Neuromuscul. Disord. 10:572-577(2000) · UniProtKB (1) · Mapped (1) |
| Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met. Senderek J., Hermanns B., Lehmann U., Bergmann C., Marx G., Kabus C., Timmerman V., Stoltenburg-Didinger G., Schroder J.M. Brain Pathol. 10:235-248(2000) · UniProtKB (1) |