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SaveFatty-acid amide hydrolase inhibition mitigates Alzheimer's disease progression in mouse models of amyloidosis
Oddi, Sergio; Scipioni, Lucia; Totaro, Antonio; Giacovazzo, Giacomo; Ciaramellano, Francesca; Tortolani, Daniel; Leuti, Alessandro; Businaro, Rita; Armeli, Federica; Bilkei-Gorzo, Andras; Coccurello, Roberto; Zimmer, Andreas; Maccarrone, Mauro Share Save Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1Komlosi, Katalin; Glocker, Cristina; Hsu-Rehder, Hao-Hsiang; Alter, Svenja; Kopp, Julia; Hotz, Alrun; Zimmer, Andreas David; Hausser, Ingrid; Sandhoff, Roger; Oji, Vinzenz; Fischer, Judith Share Save Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2Frommherz, Leonie; Komlosi, Katalin; Hewel, Charlotte; Kopp, Julia; Dewenter, Malin; Zimmer, Andreas; Bartsch, Oliver; Linke, Matthias; Technau-Hafsi, Kristin; Gerber, Susanne; Fischer, Judith; Has, Cristina Share Save A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblingsLi, Mingfeng; Lay, Kenneth; Zimmer, Andreas; Technau-Hafsi, Kristin; Wong, Jasmine; Reimer-Taschenbrecker, Antonia; Rohr, Jan; Abdalla, Ebtesam; Fischer, Judith; Reversade, Bruno; Has, Cristina Share Save Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstansJaegle, Sabine; Hsu, Hao-Hsiang; Juratli, Hazem A.; Zimmer, Andreas D.; Prieschl, Amelie; Alter, Svenja; Wiedenhofer, Bernhard; Metze, Dieter; Emmert, Steffen; Fischer, Judith Share Save Molecular characterization and natural history of linear porokeratosis: A case seriesSaleva-Stateva, Mina; Hess, Maria; Technau-Hafsi, Kristin; Weibel, Lisa; Badea, Mihai-Alexandru; Boente, Maria del Carmen; Theiler, Martin; Fiandrino, Maria Jose; Hoeger, Peter; Zimmer, Andreas; Rafei-Shamsabadi, David; Balabanova, Maria; Fischer, Judith; Boerries, Melanie; Has, Cristina Share Save Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndromeVornweg, J.; Glaeser, S.; Ahmad-Anwar, M.; Zimmer, A. D.; Kuhn, M.; Hoerer, S.; Korenke, G. C.; Grothaus, J.; Ott, H.; Fischer, J. Share Save Porokeratosis Plantaris, Palmaris et Disseminata Caused by Congenital Pathogenic Variants in the MVD Gene and Loss of Heterozygosity in Affected SkinJaegle, Sabine; Juratli, Hazem A.; Hickman, Geoffroy; Suessmuth, Kira; Boente, Maria C.; Kopp, Julia; Kirchmeier, Peter; Zimmer, Andreas; Happle, Rudolf; Bourrat, Emmanuelle; Hamm, Henning; Fischer, Judith Share Save Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1Alter, Svenja; Zimmer, Andreas David; Park, Misun; Gong, Jianli; Caliebe, Almuth; Folster-Holst, Regina; Torrelo, Antonio; Colmenero, Isabel; Steinberg, Susan F.; Fischer, Judith Share Save Severe metabolic alterations in liver cancer lead to ERK pathway activation and drug resistanceNwosu, Zeribe Chike; Pioronska, Weronika; Battello, Nadia; Zimmer, Andreas David; Dewidar, Bedair; Han, Mei; Pereira, Sharon; Blagojevic, Biljana; Castven, Darko; Charlestin, Verodia; Holenya, Pavlo; Lochead, Julia; De La Torre, Carolina; Gretz, Norbert; Sajjakulnukit, Peter; Zhang, Li; Ward, Matthew H.; Marquardt, Jens U.; di Magliano, Marina Pasca; Lyssiotis, Costas A.; Sleeman, Jonathan; Woelfl, Stefan; Ebert, Matthias Philip; Meyer, Christoph; Hofmann, Ute; Dooley, Steven Share Save A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst FormationHoerer, Steffen; Marrakchi, Slaheddine; Radner, Franz P. W.; Zolles, Gerd; Heinz, Lisa; Eichmann, Thomas O.; Has, Cristina; Salavei, Pavel; Mahfoudh, Nadia; Turki, Hamida; Zimmer, Andreas D.; Fischer, Judith Share Save Share Save Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4Ballin, Nadja; Hotz, Alrun; Bourrat, Emmanuelle; Kuesel, Julia; Oji, Vinzenz; Bouadjar, Bakar; Brognoli, Davide; Hickman, Geoffroy; Heinz, Lisa; Vabres, Pierre; Marrakchi, Slaheddine; Leclerc-Mercier, Stephanie; Irvine, Alan; Tadini, Gianluca; Hamm, Henning; Has, Cristina; Blume-Peytavi, Ulrike; Mitter, Diana; Reitenbach, Marina; Hausser, Ingrid; Zimmer, Andreas D.; Alter, Svenja; Fischer, Judith Share Save Myocardial maladaptation to pressure overload in CB2 receptor-deficient miceDuerr, Georg D.; Heinemann, Jan C.; Kley, Julian; Eichhorn, Lars; Frede, Stilla; Weisheit, Christina; Wehner, Sven; Bindila, Laura; Lutz, Beat; Zimmer, Andreas; Dewald, Oliver Share Save Mosaicism due to postzygotic mutations in women with focal dermal hypoplasiaHeinz, L.; Bourrat, E.; Vabres, P.; Thevenon, J.; Hotz, A.; Hoerer, S.; Kuesel, J.; Zimmer, A. D.; Alter, S.; Happle, R.; Fischer, J. Share Save Share Save Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosisHotz, Alrun; Bourrat, Emmanuelle; Kuesel, Julia; Oji, Vinzenz; Alter, Svenja; Hake, Lisanne; Korbi, Mouna; Ott, Hagen; Hausser, Ingrid; Zimmer, Andreas D.; Fischer, Judith Share Save Share Save Share Save 
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