Marina Frasquet
Hospital Universitari i Politècnic La Fe(ES)Instituto de Investigación Sanitaria La Fe(ES)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism, Genetic Neurodegenerative Diseases, RNA Research and Splicing
Most-Cited Works
- → Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation(2020)67 cited
- → Longitudinally extensive transverse myelitis with AQP4 antibodies revealing ovarian teratoma(2013)39 cited
- → Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain(2017)32 cited
- → Embolism and impaired washout: A possible explanation of border zone strokes in hypereosinophilic syndrome(2013)29 cited
- → Early Referral to an ALS Center Reduces Several Months the Diagnostic Delay: A Multicenter-Based Study(2020)26 cited
- → Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations(2018)24 cited
- → Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene(2018)22 cited
- → Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation(2016)20 cited
- → Antibodies against nodo-paranodal proteins are not present in genetic neuropathies(2020)17 cited
- → Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?(2019)16 cited