User profiles for "author:Martin Krenn"
Martin KrennMD PhD, Medical University of Vienna Verified email at meduniwien.ac.at Cited by 1166 |
Monogenic variants in dystonia: an exome-wide sequencing study
Background Dystonia is a clinically and genetically heterogeneous condition that occurs in
isolation (isolated dystonia), in combination with other movement disorders (combined …
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
Myasthenic syndromes are typically characterized by muscle weakness and increased
fatigability due to an impaired transmission at the neuromuscular junction (NMJ). Most cases …
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 …
(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
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 …
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
Objective To characterize, among European and Han Chinese populations, the genetic
predictors of maculopapular exanthema (MPE), a cutaneous adverse drug reaction common …
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 …
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 …
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 …
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) …
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 …
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 …
treatment of epilepsy. Despite the increasing number of ASMs available, the proportion of …