Concepedia

Stefanie Bulst

SB

Statistics

Publications

10

Citations

581

H-Index

10

Active since

2007

Affiliations

Ludwig-Maximilians-Universität München(Current)

Friedrich Baur Stiftung

Newcastle University

Medical Genetics Center

Wellcome Centre for Mitochondrial Research

Stefanie Bulst is an author at Ludwig-Maximilians-Universität München specializing in genetics, life sciences, and genetic disorders.

Publications per year

2007–2017

10

Publications

10

Polymerase γ Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity

Joanna D. Stewart, Rita Horváth, Enrico Baruffini et al. · Hepatology · 2010 · 237 citations · Full text

, , +14

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P

Maggie C. Walter, Peter Reilich, Angela Huebner et al. · Brain · 2007 · 105 citations · Full text

, , +16

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

Stefanie Bulst, Angela Abicht, Elke Holinski‐Feder et al. · Human Molecular Genetics · 2009 · 56 citations · Full text

, , +17

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2

Maggie C. Walter, Birgit Czermin, Solvig Müller-Ziermann et al. · Journal of Neurology · 2010 · 42 citations

, , +9

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

Stefanie Bulst, Elke Holinski‐Feder, Brendan Payne et al. · Molecular Genetics and Metabolism · 2012 · 37 citations

, , +15

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