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Literature citations Results

Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins.

Kotter S., Unger A., Hamdani N., Lang P., Vorgerd M., Nagel-Steger L., Linke W.A.

J. Cell Biol. 204:187-202(2014) · Mapped (1)

Human beta-defensin-3 correlates with muscle fibre degeneration in idiopathic inflammatory myopathies.

Guttsches A.K., Jacobsen F., Theiss C., Rittig A., Rehimi R., Kley R.A., Vorgerd M., Steinstraesser L.

Innate Immun 20:49-60(2014) · Mapped (3)

Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.

Kley R.A., van der Ven P.F., Olive M., Hohfeld J., Goldfarb L.G., Furst D.O., Vorgerd M.

Autophagy 9:422-423(2013) · Mapped (3)

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B., Kossmann S., Gaertner A., Brand K., Stork I., Brodehl A., Dieding M., Walhorn V., Anselmetti D., Gerdes D. et al.

Hum. Mol. Genet. 19:4595-4607(2010) · UniProtKB (1) · Mapped (13)

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Zhang Q., Bethmann C., Worth N.F., Davies J.D., Wasner C., Feuer A., Ragnauth C.D., Yi Q., Mellad J.A., Warren D.T. et al.

Hum. Mol. Genet. 16:2816-2833(2007) · UniProtKB (2)

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.

Walter M.C., Reilich P., Huebner A., Fischer D., Schroeder R., Vorgerd M., Kress W., Born C., Schoser B.G., Krause K.H. et al.

Brain 130:1485-1496(2007) · UniProtKB (1)

The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.

Lowe T., Kley R.A., van der Ven P.F., Himmel M., Huebner A., Vorgerd M., Furst D.O.

Hum. Mol. Genet. 16:1351-1358(2007) · Mapped (3)

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

Deschauer M., Morgenroth A., Joshi P.R., Glaser D., Chinnery P.F., Aasly J., Schreiber H., Knape M., Zierz S., Vorgerd M.

J. Neurol. 254:797-802(2007) · Mapped (4)

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.

Endo Y., Horinishi A., Vorgerd M., Aoyama Y., Ebara T., Murase T., Odawara M., Podskarbi T., Shin Y.S., Okubo M.

J. Hum. Genet. 51:958-963(2006) · Mapped (2)

Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

Hoffjan S., Thiels C., Vorgerd M., Neuen-Jacob E., Epplen J.T., Kress W.

Neuromuscul. Disord. 16:749-753(2006) · UniProtKB (1)

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Engelfried K., Vorgerd M., Hagedorn M., Haas G., Gilles J., Epplen J.T., Meins M.

BMC Med. Genet. 7:53-53(2006) · Mapped (5)

A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy.

Vorgerd M., van der Ven P.F.M., Bruchertseifer V., Loewe T., Kley R.A., Schroeder R., Lochmueller H., Himmel M., Koehler K., Fuerst D.O. et al.

Am. J. Hum. Genet. 77:297-304(2005) · UniProtKB (1) · Mapped (2)

Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.

Baer H., Fischer D., Goudeau B., Kley R.A., Clemen C.S., Vicart P., Herrmann H., Vorgerd M., Schroeder R.

Hum. Mol. Genet. 14:1251-1260(2005) · UniProtKB (1)

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

Zuechner S., Vorgerd M., Sindern E., Schroeder J.M.

Neuromuscul. Disord. 14:147-157(2004) · UniProtKB (1) · Mapped (1)

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.

Burwinkel B., Hu B., Schroers A., Clemens P.R., Moses S.W., Shin Y.S., Pongratz D., Vorgerd M., Kilimann M.W.

Eur. J. Hum. Genet. 11:516-526(2003) · UniProtKB (2) · Mapped (4)

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C., Schoser B.G.H., von Duering M., Betz R.C., Goebel H.-H., Zahn S., Ehrbrecht A., Aasly J., Schroers A., Popovic N. et al.

Ann. Neurol. 53:512-520(2003) · UniProtKB (1) · Mapped (1)

Consequences of a novel caveolin-3 mutation in a large German family.

Fischer D., Schroers A., Blumcke I., Urbach H., Zerres K., Mortier W., Vorgerd M., Schroder R.

Ann. Neurol. 53:233-241(2003) · UniProtKB (1)

A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

Vorgerd M., Ricker K., Ziemssen F., Kress W., Goebel H.H., Nix W.A., Kubisch C., Schoser B.G.H., Mortier W.

Neurology 57:2273-2277(2001) · UniProtKB (1)

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz R.C., Schoser B.G.H., Kasper D., Ricker K., Ramirez A., Stein V., Torbergsen T., Lee Y.-A., Nothen M.M., Wienker T.F. et al.

Nat. Genet. 28:218-219(2001) · UniProtKB (1)

Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans.

Hebinck J., Hardt C., Schols L., Vorgerd M., Briedigkeit L., Kahn C.R., Ristow M.

Diabetes 49:1604-1607(2000) · Mapped (1)

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G., Mercuri E., Muchir A., Urtizberea A., Becane H.M., Recan D., Merlini L., Wehnert M., Boor R., Reuner U. et al.

Ann. Neurol. 48:170-180(2000) · UniProtKB (1)

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

Ziemssen F., Sindern E., Schroder J.M., Shin Y.S., Zange J., Kilimann M.W., Malin J.P., Vorgerd M.

Ann. Neurol. 47:536-540(2000) · UniProtKB (1)

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

Vorgerd M., Burwinkel B., Reichmann H., Malin J.-P., Kilimann M.W.

Neurogenetics 1:205-211(1998) · UniProtKB (1)

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.

Burwinkel B., Kreuder J., Schweitzer S., Vorgerd M., Gempel K., Gerbitz K.-D., Kilimann M.W.

Biochem. Biophys. Res. Commun. 261:484-487(1999) · UniProtKB (1)

An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene.

Ristow M., Giannakidou E., Hebinck J., Busch K., Vorgerd M., Kotzka J., Knebel B., Mueller-Berghaus J., Epplen C., Pfeiffer A. et al.

Diabetes 47:851-854(1998) · Mapped (3)

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