Corina Heller
Praxis für Humangenetik Tübingen(DE)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Mitochondrial Function and Pathology, Muscle Physiology and Disorders, Genetics and Neurodevelopmental Disorders, Nuclear Structure and Function
Most-Cited Works
- → Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies(2017)78 cited
- → Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder(2020)59 cited
- → Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene(2017)39 cited
- → Identification of Key Amino Acid Residues That Determine the Ability of High Risk HPV16-E7 to Dysregulate Major Histocompatibility Complex Class I Expression(2011)36 cited
- → Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy(2017)29 cited
- → Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family(2019)13 cited
- → Cation leak through the ATP1A3 pump causes spasticity and intellectual disability(2023)12 cited
- → De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy(2024)9 cited
- → Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers(2022)3 cited
- Is it muscle or nerve? - Novel heterozygous variant c.3542G>A; p. Ser1181Asn in POLG explaining a mixed neuro-myopathic phenotype(2018)