Martin Paucar
0000-0003-3735-1480
Publication & Citation Trends
Publications
0 total
Clinical Heterogeneity in a Scandinavian FMR1 Premutation Carrier Cohort and Basal Ganglia Atrophy in FXTAS
Cited by 0
Semantic Scholar
Repeat Variants, Biomarkers, and Molecular Signatures in Parkinson’s Disease: ATXN2, ATXN3, CACNA1A, PRNP, TBP, C9ORF72, TOMM40, APOE, and POLG—A Swedish Perspective
Cited by 0
Semantic Scholar
ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model OA
Cited by 5
Semantic Scholar
Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease. OA
Cited by 4
Semantic Scholar
Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry OA
Cited by 0
Semantic Scholar
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial OA
Cited by 16
Semantic Scholar
An E280K Missense Variant in KCND3/Kv4.3—Case Report and Functional Characterization OA
Cited by 3
Semantic Scholar
Research Topics
Genetic Neurodegenerative Diseases
(47)
Mitochondrial Function and Pathology
(28)
Genetics and Neurodevelopmental Disorders
(12)
Neurological diseases and metabolism
(10)
Genomics and Rare Diseases
(9)
Affiliations
Karolinska University Hospital
National Yang Ming Chiao Tung University
University of Khartoum
Science for Life Laboratory
German Center for Neurodegenerative Diseases