Carmen Espinós

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

Avital Adato, Sarah Vreugde, Tarja Joensuu et al. · European Journal of Human Genetics · 2002 · 172 citations · Full text

Charcot-Marie-Tooth disease

Rafael Sivera, Teresa Sevilla, Juan J. Vílchez et al. · Neurology · 2013 · 128 citations · Full text

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

Rafael Artuch, Gloria Brea‐Calvo, Paz Briones et al. · Journal of the Neurological Sciences · 2006 · 99 citations

Coenzyme Q10 Supplementation, Neurology, Cerebellar Ataxia +3

Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

Teresa Sevilla, Teresa Jaijo, D. Nauffal et al. · Brain · 2008 · 98 citations · Full text

Phoniatrics, Vocal Cord Paresis, Rare Diseases +14

Mutations in the<i>MORC2</i>gene cause axonal Charcot–Marie–Tooth disease

Teresa Sevilla, Vincenzo Lupo, Dolores Martínez‐Rubio et al. · Brain · 2015 · 98 citations · Full text

Rare Diseases, Morc2 P.s25l Mutation, Mendelian Disorder +14