Wolfgang M. Schmidt

Medical University of Vienna — Austria

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index3.6kcitations125works1.82yr avg
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Research Topics

Molecular Biology Techniques and Applications(10), Mitochondrial Function and Pathology(9), Muscle Physiology and Disorders(9), Occupational and environmental lung diseases(9), RNA Research and Splicing(7)

Publications122 total

KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation
Frontiers in Neurology·2026Open Access
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy
Genetics in Medicine·2025Open Access
Two Patients with AGS9: Divergent Clinical Courses of a Rare Metabolic Disease
Neuropediatrics·2025
433PPhenotypic delineation of NAA10-related neurodevelopmental disorder due to Leu126Arg or Phe128Leu missense variants
Neuromuscular Disorders·2025
117VPGeneration of a C2C12-based model for the investigation of disease mechanisms in the early development of Duchenne muscular dystrophy
Neuromuscular Disorders·2025
623PDMD missense variants in the ZZ domain cause severe dystrophinopathy despite the co-expression of dystrophin and utrophin at the sarcolemma
Neuromuscular Disorders·2025
407PFamilial congenital myopathy due to digenic pathogenic variants in the SRPK3 and TTN genes
Neuromuscular Disorders·2025
Impaired Autophagic Flux in Skeletal Muscle of Plectin‐Related Epidermolysis Bullosa Simplex With Muscular Dystrophy
Journal of Cachexia Sarcopenia and Muscle·2025· 2 citedOpen Access
Biallelic <i>NSUN3</i> Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
Investigative Ophthalmology & Visual Science·2025· 3 citedOpen Access
Impaired autophagic flux in skeletal muscle of plectin-related epidermolysis bullosa simplex with muscular dystrophy
2025Open Access
Alternative lengthening of telomere-based immortalization renders H3G34R-mutant diffuse hemispheric glioma hypersensitive to PARP inhibitor combination regimens
Neuro-Oncology·2024· 11 citedOpen Access
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes
Pediatric Neurology·2024· 5 citedOpen Access
The Lipid Metabolism as Target and Modulator of BOLD‐100 Anticancer Activity: Crosstalk with Histone Acetylation
Advanced Science·2023· 21 citedOpen Access
Episignature analysis of moderate effects and mosaics
European Journal of Human Genetics·2023· 20 citedOpen Access
Supplementary Figure S3 from Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup
2023Open Access
Supplementary Figure S4 from Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup
2023Open Access
Supplementary Tables S1-S5 and S7-S9 from Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup
2023Open Access
Supplementary Table S6 from Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup
2023Open Access
Supplementary Figure S3 from Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup
2023Open Access
Data from Telomerase Reverse Transcriptase Promoter Mutations Identify a Genomically Defined and Highly Aggressive Human Pleural Mesothelioma Subgroup
2023Open Access
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Frequent Co-authors

Manfred W. Mueller(9), Reginald E. Bittner(8), Robert M. Mader(7), Martin Huber(4), Georg Krupitza(4), Christine Pirker(4), Walter Berger(4), Benedikt Giessrigl(3), Sigurd Krieger(3), Walter Jäger(3), Michael Grusch(3), Roland Sedivy(3), Maria Kalipciyan(3), W. Heise(3), Ernst–Otto Riecken(3), Reinhard Hiller(2), Christian Harwanegg(2), Heimo Breiteneder(2), Otto Scheiner(2), Leonhard Müllauer(2)