User profiles for "author:Martin Krenn"

Martin Krenn

MD PhD, Medical University of Vienna
Verified email at meduniwien.ac.at
Cited by 1166

Monogenic variants in dystonia: an exome-wide sequencing study

M Zech, R Jech, S Boesch, M Škorvánek… - The Lancet …, 2020 - thelancet.com
Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …

[HTML][HTML] Pathomechanisms and clinical implications of myasthenic syndromes exacerbated and induced by medical treatments

M Krenn, A Grisold, P Wohlfarth, J Rath… - Frontiers in Molecular …, 2020 - frontiersin.org
Myasthenic syndromes are typically characterized by muscle weakness and increased
fatigability due to an impaired transmission at the neuromuscular junction (NMJ). Most cases …

Carbamazepine‐and oxcarbazepine‐induced hyponatremia in people with epilepsy

B Berghuis, J van der Palen, GJ de Haan… - …, 2017 - Wiley Online Library
Objective To ascertain possible determinants of carbamazepine (CBZ)–and oxcarbazepine
(OXC)–induced hyponatremia in a large cohort of people with epilepsy. Methods We …

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

P May, S Girard, M Harrer, DR Bobbili… - The Lancet …, 2018 - thelancet.com
Background Genetic generalised epilepsy is the most common type of inherited epilepsy.
Despite a high concordance rate of 80% in monozygotic twins, the genetic background is …

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

M McCormack, H Gui, A Ingason, D Speed… - Neurology, 2018 - AAN Enterprises
Objective To characterize, among European and Han Chinese populations, the genetic
predictors of maculopapular exanthema (MPE), a cutaneous adverse drug reaction common …

[HTML][HTML] Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype …

M Krenn, E Salzer, I Simonitsch-Klupp, J Rath… - Journal of …, 2018 - Springer
A subset of patients with polyglucosan body myopathy was found to have underlying
mutations in the RBCK1 gene. Affected patients may display diverse symptoms ranging from …

[HTML][HTML] The TGF‐b/SOX4 axis and ROS‐driven autophagy co‐mediate CD39 expression in regulatory T‐cells

MC Gerner, LS Ziegler, RLJ Schmidt, M Krenn… - The FASEB …, 2020 - ncbi.nlm.nih.gov
The ectonucleotidase CD39 on human regulatory T‐cells (Treg) is an important immune
regulator which is dysregulated in autoimmune diseases and cancer immunosuppression …

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

G Androsova, R Krause, M Borghei, M Wassenaar… - …, 2017 - Wiley Online Library
Objective Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE‐HS) is a
common epilepsy syndrome that is often poorly controlled by antiepileptic drug (AED) …

Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings

A Schmidt, M Danyel, K Grundmann, T Brunet… - MedRxiv, 2023 - medrxiv.org
Most individuals with rare diseases initially consult their primary care physician. For a subset
of rare diseases, efficient diagnostic pathways are available. However, ultra-rare diseases …

Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy

S Wolking, C Moreau, M McCormack… - Annals of clinical …, 2021 - Wiley Online Library
Objective Resistance to antiseizure medications (ASMs) is one of the major concerns in the
treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of …