Mariella Simon
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, ATP Synthase and ATPases Research, RNA and protein synthesis mechanisms, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss(2011)393 cited
- → Topology of the pore-region of a K+ channel revealed by the NMR-derived structures of scorpion toxins(1995)254 cited
- → A polypeptide bound by the chaperonin groEL is localized within a central cavity.(1993)178 cited
- → Antigenic variation is associated with DNA rearrangements in a relapsing fever borrelia(1985)174 cited
- → Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin.(1996)169 cited
- → Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress(2003)145 cited
- → Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans(2012)143 cited
- → Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion(2016)119 cited
- → Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome(2015)113 cited
- → Genotype–phenotype studies of VCP‐associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia(2012)111 cited