Concepedia

Sofia Petrova

SP

3

Publications

172

Citations

3

H-Index

2003

Active since

Affiliations

Ludwig-Maximilians-Universität München(Current)

Technische Universität Dresden

Sofia Petrova is an author at Ludwig-Maximilians-Universität München specializing in genetics, medicine, and rare diseases.

Top concepts

GeneticsMedicineNeurologyPathologyNeurogeneticsRare DiseasesNeuropathologyMolecular BiologyDevelopmental BiologyNeuromuscular Pathology

Publications per year

2003–2004

3

Publications

3

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients

Juliane S. Müller, Gina Mildner, Wolfgang Müller‐Felber et al. · Neurology · 2003 · 88 citations

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

Carolin Schmidt, Angela Abicht, K Krampfl et al. · Neuromuscular Disorders · 2003 · 56 citations

Choline Acetyltransferase, Developmental Biology, Mendelian Disorder +5

Synaptic Congenital Myasthenic Syndrome in Three Patients due to a Novel Missense Mutation (T441A) of the<i>COLQ</i>Gene

J. S. Müller, Sofia Petrova, Reinhard Kiefer et al. · Neuropediatrics · 2004 · 28 citations

Genetics, Pathology, Molecular Biology +18

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