Small Fiber Neuropathy: Clinicopathological Correlations

por Pál, Endre, Fülöp, Krisztina, Tóth, Péter, Deli, Gabriella, Pfund, Zoltán, Janszky, József, Komoly, Sámuel
Publicado 2020

Analysis of Pseudoxanthoma Elasticum-Causing Missense Mutants of ABCC6 in vivo; Pharmacological Correction of the Mislocalized Proteins

por Pomozi, Viola, Brampton, Christopher, Fülöp, Krisztina, Chen, Li-Hsieh, Apana, Ailea, Li, Qiaoli, Uitto, Jouni, Le Saux, Olivier, Váradi, András
Publicado 2013

The ABCC6 Transporter: A New Player in Biomineralization

por Favre, Guillaume, Laurain, Audrey, Aranyi, Tamas, Szeri, Flora, Fulop, Krisztina, Le Saux, Olivier, Duranton, Christophe, Kauffenstein, Gilles, Martin, Ludovic, Lefthériotis, Georges
Publicado 2017

Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in Mouse Liver

por Le Saux, Olivier, Fülöp, Krisztina, Yamaguchi, Yukiko, Iliás, Attila, Szabó, Zalán, Brampton, Christopher N., Pomozi, Viola, Huszár, Krisztina, Arányi, Tamás, Váradi, András
Publicado 2011

Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations

por Arányi, Tamás, Bacquet, Caroline, de Boussac, Hugues, Ratajewski, Marcin, Pomozi, Viola, Fülöp, Krisztina, Brampton, Christopher N., Pulaski, Lukasz, Saux, Olivier Le, Váradi, András
Publicado 2013

Pyrophosphate therapy prevents trauma‐induced calcification in the mouse model of neurogenic heterotopic ossification

por Tőkési, Natália, Kozák, Eszter, Fülöp, Krisztina, Dedinszki, Dóra, Hegedűs, Nikolett, Király, Bálint, Szigeti, Krisztián, Ajtay, Kitti, Jakus, Zoltán, Zaworski, Jeremy, Letavernier, Emmanuel, Pomozi, Viola, Váradi, András
Publicado 2020

A New Zebrafish Model for Pseudoxanthoma Elasticum

por Czimer, Dávid, Porok, Klaudia, Csete, Dániel, Gyüre, Zsolt, Lavró, Viktória, Fülöp, Krisztina, Chen, Zelin, Gyergyák, Hella, Tusnády, Gábor E., Burgess, Shawn M., Mócsai, Attila, Váradi, András, Varga, Máté
Publicado 2021

Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype

por Kozák, Eszter, Bartstra, Jonas W., de Jong, Pim A., Mali, Willem P. T. M., Fülöp, Krisztina, Tőkési, Natália, Pomozi, Viola, Risseeuw, Sara, Norel, Jeannette Ossewaarde-van, van Leeuwen, Redmer, Váradi, András, Spiering, Wilko
Publicado 2023