Matias S. Wagner

Munich, BY, Germany

Last Updated: 09/26/2026

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Found 222 publications

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

Journal: Journal of neuromuscular diseases

Published: August 29, 2026

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study.

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study.

Journal: Epilepsia open

Published: July 08, 2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Journal: Clinical genetics

Published: July 08, 2026

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Journal: Molecular metabolism

Published: May 13, 2026

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Journal: Human mutation

Published: April 21, 2026

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Trio analysis in dystonia identifies de novo KLC1 variants in a kinesinopathy with distinct motor and neurodevelopmental features.

Journal: EBioMedicine

Published: March 17, 2026

Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy.

Prominent Movement Disorders in RNU2-2-Related Spliceosomopathy.

Journal: Annals of clinical and translational neurology

Published: February 27, 2026

Transaldolase deficiency - natural disease course towards adulthood.

Transaldolase deficiency - natural disease course towards adulthood.

Journal: Molecular genetics and metabolism

Published: January 08, 2026

Guidance on communication and informed consent with patients and their families for experimental individualized treatments.

Guidance on communication and informed consent with patients and their families for experimental individualized treatments.

Journal: American journal of human genetics

Published: December 19, 2025

Epilepsy surgery in pediatric patients with complex COL4A1/2-associated epilepsy.

Epilepsy surgery in pediatric patients with complex COL4A1/2-associated epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: November 27, 2025

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Journal: Epilepsia

Published: October 31, 2025

Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies.

Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies.

Journal: Neuropediatrics

Published: October 27, 2025

Showing 1-12 of 222

Last Updated: 09/26/2026