Martina Nemethova

Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment

L. Ranganath, Anna M. Milan, Andrew T. Hughes et al. · Annals of the Rheumatic Diseases · 2014 · 155 citations · Full text

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy

Martina Nemethova, Ján Radvánszky, Ľudevít Kádaši et al. · European Journal of Human Genetics · 2015 · 102 citations · Full text

Genetic Disorder, Alkaptonuria Patients, Genetics +8

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

Andrea Zaťková, Tatiana Sedláčková, Ján Radvánský et al. · JIMD Reports · 2011 · 58 citations · Full text

Thirty-Nine Novel Neurofibromatosis 1 (<i>NF1)</i>Gene Mutations Identified in Slovak Patients

Martina Nemethova, Anna Bolcekova, Denisa Ilenčíková et al. · Annals of Human Genetics · 2013 · 31 citations

Neuro-oncology, Fibrosis, Nf1 Deletions +15

Mutation Screening of the<i>HGD</i>Gene Identifies a Novel Alkaptonuria Mutation with Significant Founder Effect and High Prevalence

Srinivasan Sakthivel, Andrea Zaťková, Martina Nemethova et al. · Annals of Human Genetics · 2014 · 26 citations

Genetics, Human Polymorphism, Genetic Epidemiology +17