Projects per year
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Branches of science
- 305 Other Human Medicine, Health Sciences
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Dive into the research topics where Christian Windpassinger is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Projects
- 2 Finished
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XMPMA: Phänotypische und pathophisiologische Charaktersisierung der X-chromosomalen Myopathie mit Posturalmuskelatrophie (XMPMA)
Windpassinger, C. (Principal investigator)
1/09/09 → 31/07/11
Project: Research funding
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Hereditäare spastische Paraparese: Hereditäre spastische Paraparese mit Amyotrophie der kleinen Handmuskulatur (Silver-Syndrom): Zelluläre Expressionsanalyse des BSCL2 Gens
Windpassinger, C. (Principal investigator), Auer-Grumbach, M. (Co-investigator) & Wagner, K. (Co-investigator)
1/01/05 → 1/08/05
Project: Research funding
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Adult-Onset Acute Cerebellar Ataxia with Preceding Essential Tremor-like Syndrome Associated with a Novel Variant in ATP1A3.
Gattermeyer-Kell, L. (First author), Franthal, S. O., Tscherner, M., Kögl, M. W., Katschnig-Winter, P., Windpassinger, C. & Schwingenschuh, P., Mar 2026, In: Movement Disorders Clinical Practice. 13, 3, p. 832-834 3 p.Research output: Contribution to journal › Research letter
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Mutation mapping and functional characterization of a missense mutation p.Arg228Cys in ALDH3A2 gene causing Sjögran-Larson syndrome.
Ali, M., Sattar, S., Alayoubi, A., Abbas, S., Alharthi, M., Altemani, A., Latif, M., Khan, M. & Windpassinger, C., 1 Apr 2026, In: Molecular Biology Reports. 53, 1, 11 p., 569.Research output: Contribution to journal › Research article
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SAA4: An Underdog Within the Serum Amyloid a Superfamily?
Malle, E. (First author), Madreiter-Sokolowski, C. & Windpassinger, C., 28 Apr 2026, In: International Journal of Molecular Sciences. 27, 9, 26 p., 3907.Research output: Contribution to journal › Review
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Functional Movement Disorder in Familial Ataxia: A Case Report of Monozygotic Twins.
Kern, D. (First author), Windpassinger, C. & Schwingenschuh, P., Nov 2025, In: Movement Disorders Clinical Practice. 12, 11, p. 1992-1994 3 p.Research output: Contribution to journal › Case report
1 Citation (Web of Science) -
Genetic analysis in a consanguineous MCPH family revealed a refinement of the MCPH12 locus and a founder effect of the recurrent <i>CDK6</i> variant [c.589G>A, p.(Ala197Thr)] in the Pakistani population
Khan, M., Blatterer, J., Kuster, M., Kaufmann, L., Kroisel, P., Vincent, J., Zubair, M., Muzammal, M., Ahmad, N., Abbas, S., Shah, W., Ali, M., Hussain, M., Thiele, H., Nürnberg, P., Wagner, K. & Windpassinger, C., 1 Aug 2025, In: Journal of Genetics. 104, 2, 6 p., 19.Research output: Contribution to journal › Research article
1 Citation (Web of Science)
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Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons
Kaufmann, L. (Speaker), Pilic, J. (Author), Auinger, L. (Author), Mayer, A.-L. (Author), Blatterer, J. (Author), Semmler-Bruckner, J. (Author), Abbas, S. (Author), Rehman, K. (Author), Ayaz, M. (Author), Graier, W. (Author), Malli, R. (Author), Petek, E. (Author), Wagner, K. (Author), Al Kaissi, A. (Author), Khan, M. (Author) & Windpassinger, C. (Author)
2023Activity: Talk, presentation or poster › Poster
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Young man presenting with a paroxysmal gait disorder.
Gattermeyer-Kell, L. (Speaker), Windpassinger, C. (Author), Katschnig-Winter, P. (Author) & Schwingenschuh, P. (Author)
2023Activity: Talk, presentation or poster › Scientific talk or presentation › On site
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An exceptional biallelic N-terminal frameshift mutation in ZMPSTE24 leads to non-lethal progeria due to utilization of a downstream alternative start codon
Kaufmann, L. (Author), Blatterer, J. (Author), Schaflinger, E. (Author), Khan, A. (Author), Auinger, L. (Author), Tatrai, B. (Author), Abbasi, S. (Author), Ali, M. (Author), Abbasi, A. (Author), Al Kaissi, A. (Author), Wagner, K. (Author), Khan, M. (Author) & Windpassinger, C. (Author)
2022Activity: Talk, presentation or poster › Scientific talk or presentation › On site
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Molecular genetic and cellular characterization of a missense mutation in SLITRK1 associated with non-syndromic autosomal recessive intellectual disability
Khan, M. (Author), Blatterer, J. (Author), Ali, M. (Author), Baufeld, L. (Author), Petek, E. (Author), Wagner, K. (Author), Ramadani Muja, J. (Author), Malli, R. (Author), Muzammal, M. (Author) & Windpassinger, C. (Author)
2019Activity: Talk, presentation or poster › Poster
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SCREENING FOR MUTATIONS IN NON-SYNDROMIC AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY GENES IN NON-CONSANGUINEOUS INTELLECTUAL DISABILITY AND AUTISM POPULATIONS
Vincent, J. (Author), Harripaul, R. (Author), Santavy, L. (Author), NcNaughton, A. (Author), Mittal, K. (Author), Vasli, N. (Author), Mikhailov, A. (Author), Henry, C. (Author), Hudson, M. (Author), Windpassinger, C. (Author), Stavropoulos, J. (Author), Carter, M. (Author), Limprasert, P. (Author), Ayub, M. (Author) & Liu, X. (Author)
2017Activity: Talk, presentation or poster › Scientific talk or presentation › On site
Prizes
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Deutsche Gesellschaft für Humangenetik (GfH)-Tagung Graz -Posterpreis
Windpassinger, C. (Recipient), 2015
Prize
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Förderungsstipendium der Medizinischen Universität Graz (PI, Supervisor)
Windpassinger, C. (Recipient), 2020
Prize