Miriam Kolníková

Acetyl- <scp>dl</scp> -leucine in Niemann-Pick type C

Tatiana Brémovà-Ertl, Vĕra Malinová, Yasmina Amraoui et al. · Neurology · 2015 · 100 citations

Trial of <i>N</i> -Acetyl- <scp>l</scp> -Leucine in Niemann–Pick Disease Type C

Tatiana Brémovà-Ertl, Uma Ramaswami, Marion M. Brands et al. · New England Journal of Medicine · 2024 · 82 citations

<i>EIF2S3</i>Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Martina Škopková, Friederike Hennig, Byung‐Sik Shin et al. · Human Mutation · 2017 · 81 citations · Full text

Genetics, Disease Gene Identification, Transcriptional Regulation +19

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

Tatiana Brémovà-Ertl, Tomas Foltan, Jordi Gascón‐Bayarri et al. · Journal of Neurology · 2021 · 58 citations · Full text

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

Mercédes Pineda, Katarína Juríčková, Parvaneh Karimzadeh et al. · Orphanet Journal of Rare Diseases · 2019 · 47 citations · Full text