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Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M. Guelly C, et al. Among authors: frohlich e. Am J Hum Genet. 2011 Jan 7;88(1):99-105. doi: 10.1016/j.ajhg.2010.12.003. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194679 Free PMC article.
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, Strohmaier H, Lochmüller H, Schlotter-Weigel B, Senderek J, Krebs A, Dick KJ, Petty R, Longman C, Anderson NE, Padberg GW, Schelhaas HJ, van Ravenswaaij-Arts CM, Pieber TR, Crosby AH, Guelly C. Auer-Grumbach M, et al. Among authors: frohlich e. Nat Genet. 2010 Feb;42(2):160-4. doi: 10.1038/ng.508. Epub 2009 Dec 27. Nat Genet. 2010. PMID: 20037588 Free PMC article.
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. Among authors: frohlich e. Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15. Brain. 2011. PMID: 21576112 Free PMC article.
Cholesteryl ester hydrolase activity is abolished in HSL-/- macrophages but unchanged in macrophages lacking KIAA1363.
Buchebner M, Pfeifer T, Rathke N, Chandak PG, Lass A, Schreiber R, Kratzer A, Zimmermann R, Sattler W, Koefeler H, Fröhlich E, Kostner GM, Birner-Gruenberger R, Chiang KP, Haemmerle G, Zechner R, Levak-Frank S, Cravatt B, Kratky D. Buchebner M, et al. Among authors: frohlich e. J Lipid Res. 2010 Oct;51(10):2896-908. doi: 10.1194/jlr.M004259. Epub 2010 Jul 12. J Lipid Res. 2010. PMID: 20625037 Free PMC article.
1,003 results