Filip Majer

Affiliations
  • Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Ke Karlovu 2, 120 00, Prague 2, Czech Republic. filip.majer@lf1.cuni.cz.

Publications (2)

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Orphanet journal of rare diseases
Avec: Dita Musalkova , Filip Majer , Ladislav Kuchar , Ondrej Luksan , Befekadu Asfaw , Hana Vlaskova , Gabriela Storkanova , Martin Reboun , Helena Poupetova , Helena Jahnova , Helena Hulkova , Jana Ledvinova , Lenka Dvorakova , Jakub Sikora , Milan Jirsa , Marie T Vanier , Martin Hrebicek

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

American journal of medical genetics. Part A
Avec: Filip Majer , Bohdan Kousal , Petr Dusek , Lenka Piherova , Martin Reboun , Romana Mihalova , Jiri Gurka , Alice Krebsova , Hana Vlaskova , Lenka Dvorakova , Jana Krihova , Petra Liskova , Stanislav Kmoch , Tomas Kalina , Milos Kubanek , Jakub Sikora

Réseau de co-auteurs

Hana Vlaskova 2 collaborations
Martin Reboun 2 collaborations
Lenka Dvorakova 2 collaborations
Jakub Sikora 2 collaborations
Dita Musalkova 1 collaboration
Ladislav Kuchar 1 collaboration
Ondrej Luksan 1 collaboration
Befekadu Asfaw 1 collaboration
Gabriela Storkanova 1 collaboration
Helena Poupetova 1 collaboration
Helena Jahnova 1 collaboration
Helena Hulkova 1 collaboration
Jana Ledvinova 1 collaboration
Milan Jirsa 1 collaboration
Marie T Vanier 1 collaboration
Martin Hrebicek 1 collaboration
Bohdan Kousal 1 collaboration
Petr Dusek 1 collaboration
Lenka Piherova 1 collaboration
Romana Mihalova 1 collaboration
Jiri Gurka 1 collaboration
Alice Krebsova 1 collaboration
Jana Krihova 1 collaboration
Petra Liskova 1 collaboration
Stanislav Kmoch 1 collaboration
Tomas Kalina 1 collaboration
Milos Kubanek 1 collaboration