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Veronika Pilshofer | Researchclopedia

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Veronika Pilshofer

8

Works

509

Citations

5

h-index

5

i10-index

Research Topics

Neurogenetic and Muscular Disorders Research Epigenetics and DNA Methylation Cardiomyopathy and Myosin Studies

Affiliations

Ordensklinikum Linz Barmherzige Schwestern2015–2021

SMART Reading2024–2024

AGO Austria2015–2021

Top Works

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech,Robert Jech,et al.

2020207 citations

Neurological disorders and treatments

Genetic Neurodegenerative Diseases

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

Michael Zech,Sylvia Boesch,et al.

2016170 citations

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy

Oliver Schwartz,Katharina Vill,et al.

202451 citations

Blood DNA methylation provides an accurate biomarker of<i>KMT2B</i>-related dystonia and predicts onset

Nazanin Mirza‐Schreiber,Michael Zech,et al.

202143 citations

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

Cornelia Voigt-Müller,Michelle Pfaffenlehner,et al.

20251 citations

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

Maggie C. Walter,M. Weiler,et al.

20260 citations

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

Marie Bernkopf,Christian Windpassinger,et al.

20150 citations