Christian Windpassinger

Graz, 8010, Austria

Last Updated: 09/26/2026

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Found 48 publications

SAA4: An Underdog Within the Serum Amyloid a Superfamily?

SAA4: An Underdog Within the Serum Amyloid a Superfamily?

Journal: International journal of molecular sciences
Published: March 18, 2026

Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.

Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.

Journal: Molecular biology reports
Published: March 04, 2026

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent CDK6 variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population.

Journal: Journal of genetics
Published: August 13, 2025

Adult-Onset Acute Cerebellar Ataxia with Preceding Essential Tremor-like Syndrome Associated with a Novel Variant in ATP1A3.

Adult-Onset Acute Cerebellar Ataxia with Preceding Essential Tremor-like Syndrome Associated with a Novel Variant in ATP1A3.

Journal: Movement disorders clinical practice
Published: August 12, 2025

Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.

Mutation screening of the ASPM gene in multiple Pashtun origin MCPH families revealed the recurrent nonsense mutation p.Trp1326*: A step towards the development of a genetic diagnostic test.

Journal: Neurogenetics
Published: July 25, 2025

The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations.

The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations.

Journal: Genes
Published: April 29, 2025

Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.

Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.

Journal: Journal of neuromuscular diseases
Published: March 29, 2025

Functional Movement Disorder in Familial Ataxia: A Case Report of Monozygotic Twins.

Functional Movement Disorder in Familial Ataxia: A Case Report of Monozygotic Twins.

Journal: Movement disorders clinical practice
Published: March 26, 2025

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.

Journal: Clinical genetics
Published: March 27, 2023

Fasting Dependent Paroxysmal Exercise Induced Dystonia as Presenting Symptom in PRKN Type of Parkinson's Disease.

Fasting Dependent Paroxysmal Exercise Induced Dystonia as Presenting Symptom in PRKN Type of Parkinson's Disease.

Journal: Movement disorders clinical practice
Published: December 21, 2022

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

Journal: Gene
Published: December 09, 2021

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.

Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM.

Journal: Biotechnology and applied biochemistry
Published: August 06, 2021
Showing 1-12 of 48

Last Updated: 09/26/2026