List of works by Martin Krenn

Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing

scientific article published on 25 June 2019

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

scientific article published on 21 May 2021

CANOMAD responding to weekly treatment with intravenous immunoglobulin (IVIg).

scientific article published on 10 April 2014

Cerebrospinal fluid analysis in Guillain-Barré syndrome: value of albumin quotients

scientific article published on 02 March 2021

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes

scientific article published on 21 February 2020

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach

scientific article published on 13 August 2019

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene

scientific article published on 22 March 2017

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

scientific article published on 19 December 2017

Phenotypic variability of GABRA1-related epilepsy in monozygotic twins

scientific article published on 30 September 2019

Rare Human Missense Variants can affect the Function of Disease-Relevant Proteins by Loss and Gain of Peroxisomal Targeting Motifs

scientific article published on 17 September 2019

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

article

Real-world treatment of adult patients with Guillain-Barré syndrome over the last two decades

scientific article published on 27 September 2021

Testing association of rare genetic variants with resistance to three common antiseizure medications

scientific article published on 06 March 2020

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