Anni Evilä
University of Helsinki(FI)Folkhälsans Forskningscentrum(FI)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research, RNA Research and Splicing, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1(2012)155 cited
- → Titin mutation segregates with hereditary myopathy with early respiratory failure(2012)138 cited
- → Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy(2015)134 cited
- → Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5(2012)116 cited
- → TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations(2018)108 cited
- → The genetic basis of undiagnosed muscular dystrophies and myopathies(2016)102 cited
- → Targeted next-generation sequencing assay for detection of mutations in primary myopathies(2015)100 cited
- → Atypical phenotypes in titinopathies explained by second titin mutations(2014)93 cited
- → Interpreting Genetic Variants in Titin in Patients With Muscle Disorders(2018)92 cited
- → SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles(2015)89 cited