Ján Necpál

14PUBLICATIONS
35CO-AUTHORS
Developmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Toxicology (incl. clinical toxicology)Other European languagesCatalysis and mechanisms of reactions
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Publications (14)

|Jun 03, 2026
Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype.

|Oct 01, 2025
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.

Ugo Sorrentino, Martin Pavlov, Nazanin Mirza-Schreiber

|Apr 25, 2025
Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

Philip Harrer, Magdalena Krygier, Martin Krenn

|Mar 22, 2025
Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.

Miriam Ostrozovicova, Gertrud Tamas, Agsha Atputhavadivel

|Nov 28, 2024
The three clap test: a window into cognitive and frontal lobe dysfunction.

Zuzana Brežná, Katarína Ďurčová Typčuková, Ján Necpál

|Apr 15, 2024
Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.

Ugo Sorrentino, Luigi M Romito, Barbara Garavaglia

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Frequent Collaborators

6 joint publications

Robert Jech

4 joint publications

Michael Zech

4 joint publications

Matej Skorvanek

2 joint publications

Matias Wagner