Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review

por Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolniková, Miriam, Malinová, Věra, Torres, Juan, Kolb, Stefan A.
Publicado 2019

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective...

por Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolnikova, Miriam, Malinova, Vera, Insua, Jose Luis, Velten, Christian, Kolb, Stefan A.
Publicado 2019

A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients

por Kluckova, Daniela, Kolnikova, Miriam, Lacinova, Lubica, Jurkovicova-Tarabova, Bohumila, Foltan, Tomas, Demko, Viktor, Kadasi, Ludevit, Ficek, Andrej, Soltysova, Andrea
Publicado 2020

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

por Skopkova, Martina, Stufkova, Hana, Rambani, Vibhuti, Stranecky, Viktor, Brennerova, Katarina, Kolnikova, Miriam, Pietrzykova, Michaela, Karhanek, Miloslav, Noskova, Lenka, Tesarova, Marketa, Hansikova, Hana, Gasperikova, Daniela
Publicado 2023

Efficacy and safety of N-acetyl-l-leucine in Niemann–Pick disease type C

por Bremova-Ertl, Tatiana, Claassen, Jens, Foltan, Tomas, Gascon-Bayarri, Jordi, Gissen, Paul, Hahn, Andreas, Hassan, Anhar, Hennig, Anita, Jones, Simon A., Kolnikova, Miriam, Martakis, Kyriakos, Raethjen, Jan, Ramaswami, Uma, Sharma, Reena, Schneider, Susanne A.
Publicado 2021

A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C

por Bremova‐Ertl, Tatiana, Abel, Larry, Walterfang, Mark, Salsano, Ettore, Ardissone, Anna, Malinová, Věra, Kolníková, Miriam, Gascón Bayarri, Jordi, Reza Tavasoli, Ali, Reza Ashrafi, Mahmoud, Amraoui, Yasmina, Mengel, Eugen, Kolb, Stefan A., Brecht, Andreas, Bardins, Stanislavs, Strupp, Michael
Publicado 2021