Search filters

List of works by Eva Reinthaler

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

scientific article published on 16 June 2014

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

scientific article

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

scientific article

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

scientific article

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

scientific article published on 06 June 2019

Genome-wide significant association with seven novel multiple sclerosis risk loci

scientific article

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

scientific article published on 11 August 2013

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

scientific article

Paulina is supported by:

About Paulina

Help