Martin Reboun

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.

Publications (3)

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

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

Neuro endocrinology letters

Avec: Marketa Zemanova , Petr Chrastina , Lenka Dvorakova , Martin Reboun , Hana Vlaskova , Helena Jahnova , Nabil El-Lababidi , Jana Cepova , Tomas Honzik , Jiri Zeman

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 3 collaborations

Lenka Dvorakova 3 collaborations

Filip Majer 2 collaborations

Helena Jahnova 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 Hulkova 1 collaboration

Jana Ledvinova 1 collaboration

Milan Jirsa 1 collaboration

Marie T Vanier 1 collaboration

Martin Hrebicek 1 collaboration

Marketa Zemanova 1 collaboration

Petr Chrastina 1 collaboration

Nabil El-Lababidi 1 collaboration

Jana Cepova 1 collaboration

Tomas Honzik 1 collaboration

Jiri Zeman 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