Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 ye...

por Jahnova, Helena, Dvorakova, Lenka, Vlaskova, Hana, Hulkova, Helena, Poupetova, Helena, Hrebicek, Martin, Jesina, Pavel
Publicado 2014

Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

por Ulmanová, Olga, Koens, Lisette H., Jahnová, Helena, de Vries, Jeroen J., de Koning, Tom J., Růžička, Evžen, Tijssen, Marina A.J.
Publicado 2020

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystroph...

por Dudakova, Lubica, Skalicka, Pavlina, Davidson, Alice E., Sadan, Amanda N., Chylova, Monika, Jahnova, Helena, Anteneova, Nicole, Tesarova, Marketa, Honzik, Tomas, Liskova, Petra
Publicado 2021

Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study

por Patterson, Marc C., Garver, William S., Giugliani, Robert, Imrie, Jackie, Jahnova, Helena, Meaney, F John, Nadjar, Yann, Vanier, Marie T., Moneuse, Patrick, Morand, Olivier, Rosenberg, Daniel, Schwierin, Barbara, Héron, Benedicte
Publicado 2020

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)

por Pineda, Mercedes, Mengel, Eugen, Jahnová, Helena, Héron, Bénédicte, Imrie, Jackie, Lourenço, Charles M., van der Linden, Vanessa, Karimzadeh, Parvaneh, Valayannopoulos, Vassili, Jesina, Pavel, Torres, Juan V., Kolb, Stefan A.
Publicado 2016

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

por Musalkova, Dita, Majer, Filip, Kuchar, Ladislav, Luksan, Ondrej, Asfaw, Befekadu, Vlaskova, Hana, Storkanova, Gabriela, Reboun, Martin, Poupetova, Helena, Jahnova, Helena, Hulkova, Helena, Ledvinova, Jana, Dvorakova, Lenka, Sikora, Jakub, Jirsa, Milan, Vanier, Marie T., Hrebicek, Martin
Publicado 2020

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

por Bolton, Shaun C., Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C., Vanier, Marie T., Geberhiwot, Tarekegn
Publicado 2022

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

por Plevova, Pavlina, Indrakova, Jana, Savige, Judy, Kuhnova, Petra, Tvrda, Petra, Cerna, Dita, Hilscherova, Sarka, Kudrejova, Monika, Polendova, Daniela, Jaklova, Radka, Langova, Martina, Jahnova, Helena, Lastuvkova, Jana, Dusek, Jiri, Gut, Josef, Vlckova, Marketa, Solarova, Pavla, Kreckova, Gabriela, Kantorova, Eva, Soukalova, Jana, Slavkovsky, Rastislav, Zapletalova, Jana, Tichy, Tomas, Thomasova, Dana
Publicado 2023