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Items: 1 to 20 of 129

1.

The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?

Clemen CS, Winter L, Strucksberg KH, Berwanger C, Türk M, Kornblum C, Florin A, Aguilar-Pimentel JA, Amarie OV, Becker L, Garrett L, Hans W, Moreth K, Neff F, Pingen L, Rathkolb B, Rácz I, Rozman J, Treise I, Fuchs H, Gailus-Durner V, de Angelis MH, Vorgerd M, Eichinger L, Schröder R.

Biochem Biophys Res Commun. 2018 Sep 18;503(4):2770-2777. doi: 10.1016/j.bbrc.2018.08.038. Epub 2018 Aug 9.

2.

Label-free identification of myopathological features with coherent anti-Stokes Raman scattering.

Niedieker D, GrosserÜschkamp F, Schreiner A, Barkovits K, Kötting C, Marcus K, Gerwert K, Vorgerd M.

Muscle Nerve. 2018 Sep;58(3):456-459. doi: 10.1002/mus.26140. Epub 2018 May 17.

PMID:
29663456
3.

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.

Dusanic M, Dekomien G, Lücke T, Vorgerd M, Weis J, Epplen JT, Köhler C, Hoffjan S.

Mol Syndromol. 2018 Feb;9(2):100-109. doi: 10.1159/000485881. Epub 2018 Jan 24.

4.

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA.

Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0.

5.

Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Study.

Sczesny-Kaiser M, Kowalewski R, Schildhauer TA, Aach M, Jansen O, Grasmücke D, Güttsches AK, Vorgerd M, Tegenthoff M.

Front Neurosci. 2017 Aug 8;11:449. doi: 10.3389/fnins.2017.00449. eCollection 2017.

6.

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.

Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B.

Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21.

7.

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

Brodehl A, Gaertner-Rommel A, Klauke B, Grewe SA, Schirmer I, Peterschröder A, Faber L, Vorgerd M, Gummert J, Anselmetti D, Schulz U, Paluszkiewicz L, Milting H.

Hum Mutat. 2017 Aug;38(8):947-952. doi: 10.1002/humu.23248. Epub 2017 Jun 21.

PMID:
28493373
8.

Diffusion tensor imaging of the human calf: Variation of inter- and intramuscle-specific diffusion parameters.

Schlaffke L, Rehmann R, Froeling M, Kley R, Tegenthoff M, Vorgerd M, Schmidt-Wilcke T.

J Magn Reson Imaging. 2017 Oct;46(4):1137-1148. doi: 10.1002/jmri.25650. Epub 2017 Feb 2.

PMID:
28152253
9.

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

Güttsches AK, Brady S, Krause K, Maerkens A, Uszkoreit J, Eisenacher M, Schreiner A, Galozzi S, Mertens-Rill J, Tegenthoff M, Holton JL, Harms MB, Lloyd TE, Vorgerd M, Weihl CC, Marcus K, Kley RA.

Ann Neurol. 2017 Feb;81(2):227-239. doi: 10.1002/ana.24847. Epub 2017 Jan 27.

10.

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.

Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M.

Neurology. 2016 Nov 22;87(21):2235-2243. Epub 2016 Oct 26.

PMID:
27784775
11.

Confocal Cornea Microscopy Detects Involvement of Corneal Nerve Fibers in a Patient with Light-Chain Amyloid Neuropathy Caused by Multiple Myeloma: A Case Report.

Sturm D, Schmidt-Wilcke T, Greiner T, Maier C, Schargus M, Tegenthoff M, Vorgerd M.

Case Rep Neurol. 2016 Jun 27;8(2):134-9. doi: 10.1159/000446538. eCollection 2016 May-Aug.

12.

Unveiling of miRNA Expression Patterns in Purkinje Cells During Development.

Pieczora L, Stracke L, Vorgerd M, Hahn S, Theiss C, Theis V.

Cerebellum. 2017 Apr;16(2):376-387. doi: 10.1007/s12311-016-0814-9.

PMID:
27387430
13.

Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy.

Gruhn KM, Heyer CM, Güttsches AK, Rehmann R, Nicolas V, Schmidt-Wilcke T, Tegenthoff M, Vorgerd M, Kley RA.

Mol Genet Metab Rep. 2015 Apr 21;3:58-64. doi: 10.1016/j.ymgmr.2015.03.010. eCollection 2015 Jun.

14.

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

Maerkens A, Olivé M, Schreiner A, Feldkirchner S, Schessl J, Uszkoreit J, Barkovits K, Güttsches AK, Theis V, Eisenacher M, Tegenthoff M, Goldfarb LG, Schröder R, Schoser B, van der Ven PF, Fürst DO, Vorgerd M, Marcus K, Kley RA.

Acta Neuropathol Commun. 2016 Feb 3;4:8. doi: 10.1186/s40478-016-0280-0.

15.

Myofibrillar instability exacerbated by acute exercise in filaminopathy.

Chevessier F, Schuld J, Orfanos Z, Plank AC, Wolf L, Maerkens A, Unger A, Schlötzer-Schrehardt U, Kley RA, Von Hörsten S, Marcus K, Linke WA, Vorgerd M, van der Ven PF, Fürst DO, Schröder R.

Hum Mol Genet. 2015 Dec 20;24(25):7207-20. doi: 10.1093/hmg/ddv421. Epub 2015 Oct 15.

PMID:
26472074
16.

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation.

Walter MC, Rossius M, Zitzelsberger M, Vorgerd M, Müller-Felber W, Ertl-Wagner B, Zhang Y, Brinkmeier H, Senderek J, Schoser B.

Neuromuscul Disord. 2015 Jul;25(7):577-84. doi: 10.1016/j.nmd.2015.04.005. Epub 2015 Apr 16.

PMID:
25953320
17.

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Güttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M.

Neuromuscul Disord. 2015 May;25(5):392-6. doi: 10.1016/j.nmd.2015.01.013. Epub 2015 Feb 3.

PMID:
25740301
18.

Th2-M2 immunity in lesions of muscular sarcoidosis and macrophagic myofasciitis.

Preusse C, Goebel HH, Pehl D, Rinnenthal JL, Kley RA, Allenbach Y, Heppner FL, Vorgerd M, Authier FJ, Gherardi R, Stenzel W.

Neuropathol Appl Neurobiol. 2015 Dec;41(7):952-63. doi: 10.1111/nan.12231. Epub 2015 May 19.

PMID:
25711697
19.

ATOH8: a novel marker in human muscle fiber regeneration.

Güttsches AK, Balakrishnan-Renuka A, Kley RA, Tegenthoff M, Brand-Saberi B, Vorgerd M.

Histochem Cell Biol. 2015 May;143(5):443-52. doi: 10.1007/s00418-014-1299-6. Epub 2014 Dec 17.

PMID:
25514850
20.

Effects of follicular versus luteal phase-based strength training in young women.

Sung E, Han A, Hinrichs T, Vorgerd M, Manchado C, Platen P.

Springerplus. 2014 Nov 11;3:668. doi: 10.1186/2193-1801-3-668. eCollection 2014.

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