Author

Veronika Pilshofer

Observed institutions: University of Freiburg, University Medical Center Freiburg, Ordensklinikum Linz Barmherzige Schwestern

OpenAlex ID: A5073744148

Monogenic variants in dystonia: an exome-wide sequencing study

2020 · Michael Zech, Robert Jech, et al. · The Lancet Neurology · 212

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

2016 · Michael Zech, Sylvia Boesch, et al. · The American Journal of Human Genetics · 171

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy

2024 · Oliver Schwartz, Katharina Vill, et al. · Archives of Pediatrics and Adolescent Medicine · 73

Blood DNA methylation provides an accurate biomarker ofKMT2B-related dystonia and predicts onset

2021 · Nazanin Mirza-Schreiber, Michael Zech, et al. · Brain · 43

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

2022 · Astrid Pechmann, Max Behrens, et al. · Orphanet Journal of Rare Diseases · 41

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry

2025 · Cornelia Voigt-Müller, Michelle Pfaffenlehner, et al. · Brain · 3

Real-World Outcomes of Risdiplam in 5q Spinal Muscular Atrophy Over 30 Months in Adolescents and Adults: A Multicentre, Prospective, Observational SMArtCARE Study

2026 · Maggie C. Walter, Markus Weiler, et al. · SSRN Electronic Journal

Methyltransferases and intellectual disability - an NGS-Gene-Panel approach

2015 · Marie Bernkopf, Christian Windpassinger, et al.

Works count: 8

Citation count: 543

H-index: 5

I10-index: 5