Martin Paucar

17PUBLICATIONS
16CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesMedical biotechnology diagnostics (incl. biosensors)Ophthalmology and optometry not elsewhere classified
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (17)

|Aug 29, 2026
ATXN2 Spectrum Disorders: Genetic Complexity Beyond Dominant Inheritance.

|May 01, 2026
The ATXN2 9 bp duplication in SCA3: clarifying evidence and correcting misinterpretations.

|Sep 27, 2025
Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson's Disease: ATXN2, ATXN3, CACNA1A, PRNP, TBP, C9ORF72, TOMM40, APOE, and POLG-A Swedish Perspective.

Jose Miguel Laffita-Mesa, Martin Paucar, Per Svenningsson

|Jan 22, 2025
Acute Vestibular Syndrome Unmasking an RFC1-Spectrum Disorder.

Luca Verrecchia, Victor Alm, Håkan Thonberg

|Nov 30, 2023
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.

Ilan Ben-Shabat, Malin Kvarnung, Wolfgang Sperker

|Feb 12, 2021
V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations.

Martin Paucar, Richard Ågren, Tianyi Li

Pageof 3

Frequent Collaborators

5 joint publications

Per Svenningsson

2 joint publications

Jose Miguel Laffita-Mesa

1 joint publications

Kristina Lagerstedt-Robinson

1 joint publications

Ilan Ben-Shabat