Publications by authors named "Eva Reinthaler"

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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Eva Reinthaler

medRxiv· September 2024

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Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Carles Vilariño-Güell, Alexander Zimprich, Filippo Martinelli-Boneschi, Bruno Herculano, Zhe Wang, Eva M Reinthaler

PLoS Genet· June 2019

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Rare gene deletions in genetic generalized and Rolandic epilepsies.
Kamel Jabbari, Dheeraj R Bobbili, Dennis Lal, Eva M Reinthaler, Julian Schubert

PLoS One· February 2019

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A rare P2RX7 variant in a Hungarian family with multiple sclerosis.
Tobias Zrzavy, Reka Kovacs-Nagy, Eva Reinthaler, Angela Deutschländer, Christiane Schmied

Mult Scler Relat Disord· January 2019

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TPP2 mutation associated with sterile brain inflammation mimicking MS.
Eva M Reinthaler, Elisabeth Graf, Tobias Zrzavy, Thomas Wieland, Christoph Hotzy

Neurol Genet· December 2018

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Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Dheeraj R Bobbili, Dennis Lal, Patrick May, Eva M Reinthaler, Kamel Jabbari, Eva M Reinthaler

Eur J Hum Genet· February 2018

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Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Eduardo Pérez-Palma, Ingo Helbig, Karl Martin Klein, Verneri Anttila, Heiko Horn, Eva Maria Reinthaler

J Med Genet· September 2017

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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele

PLoS One· August 2016

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Genome-wide significant association with seven novel multiple sclerosis risk loci.
Christina M Lill, Felix Luessi, Antonio Alcina, Ekaterina A Sokolova, Nerea Ugidos, Eva Reinthaler

J Med Genet· December 2015

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Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Eva M Reinthaler, Borislav Dejanovic, Dennis Lal, Marcus Semtner, Yvonne Merkler

Ann Neurol· June 2015

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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.
Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Eva M Reinthaler

PLoS Genet· May 2015

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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Eva M Reinthaler, Dennis Lal, Sebastien Lebon, Michael S Hildebrand, Hans-Henrik M Dahl

Hum Mol Genet· November 2014

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Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Eva M Reinthaler, Dennis Lal, Wiktor Jurkowski, Martha Feucht, Hannelore Steinböck

Epilepsia· August 2014

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RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
Dennis Lal, Eva M Reinthaler, Janine Altmüller, Mohammad R Toliat, Holger Thiele

PLoS One· June 2014

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DEPDC5 mutations in genetic focal epilepsies of childhood.
Dennis Lal, Eva M Reinthaler, Julian Schubert, Hiltrud Muhle, Erik Riesch

Ann Neurol· May 2014

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No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.
Eva Reinthaler, Gerrit Machetanz, Christoph Hotzy, Markus Reindl, Franz Fazekas

Mult Scler· March 2014

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Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, Jan Novy, Eva M Reinthaler

Brain· October 2013

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
Johannes R Lemke, Dennis Lal, Eva M Reinthaler, Isabelle Steiner, Michael Nothnagel

Nat Genet· September 2013

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Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
Elisabeth Stogmann, Eva Reinthaler, Salwa Eltawil, Mohammed A El Etribi, Mahmoud Hemeda

Brain· April 2013

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Lack of association between ABCC2 gene variants and treatment response in epilepsy.
Eva Hilger, Eva Maria Reinthaler, Elisabeth Stogmann, Christoph Hotzy, Ekaterina Pataraia

Pharmacogenomics· January 2012

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A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Alexander Zimprich, Anna Benet-Pagès, Walter Struhal, Elisabeth Graf, Sebastian H Eck, Eva Reinthaler

Am J Hum Genet· July 2011

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Association of transcription factor polymorphisms PITX3 and EN1 with Parkinson's disease.
Dietrich Haubenberger, Eva Reinthaler, Jakob C Mueller, Walter Pirker, Regina Katzenschlager

Neurobiol Aging· February 2011

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PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease.
Alexander Zimprich, Claudia Schulte, Eva Reinthaler, Dietrich Haubenberger, Jörg Balzar

Parkinsonism Relat Disord· August 2009

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