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Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Auer-Grumbach M, et al. Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15. Brain. 2011. PMID: 21576112 Free PMC article.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.
Schmerzhafte hämorrhagische Bullae an den Handrücken.
Deinlein T, Cerroni L, El-Shabrawi-Caelen L, Gruber M, Fink-Puches R. Deinlein T, et al. J Dtsch Dermatol Ges. 2018 Sep;16(9):1152-1154. doi: 10.1111/ddg.13625_g. J Dtsch Dermatol Ges. 2018. PMID: 30179324 No abstract available.
Alopecia universalis associated with cutaneous T cell lymphoma.
Miteva M, El Shabrawi-Caelen L, Fink-Puches R, Beham-Schmid C, Romanelli P, Kerdel F, Tosti A. Miteva M, et al. Dermatology. 2014;229(2):65-9. doi: 10.1159/000360759. Epub 2014 May 6. Dermatology. 2014. PMID: 24821490
124 results