Carmen Espinós
Centro de Investigacion Principe Felipe(ES)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Neurological diseases and metabolism, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders
Most-Cited Works
- → Autosomal recessive cerebellar ataxias(2006)196 cited
- → USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses(2002)172 cited
- → Charcot-Marie-Tooth disease(2013)129 cited
- → Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy(2008)99 cited
- → Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation(2006)99 cited
- → Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease(2015)98 cited
- → Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)(2020)86 cited
- → Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders(2016)77 cited
- → Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation(2020)67 cited
- → Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration(2020)63 cited