María José Chumillas
Hospital Universitari i Politècnic La Fe(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Centro de Investigación Biomédica en Red(ES)Instituto de Investigación Sanitaria La Fe(ES)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Botulinum Toxin and Related Neurological Disorders, Neurological diseases and metabolism, Amyotrophic Lateral Sclerosis Research
Most-Cited Works
- → The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease(2001)359 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
- → Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease(2015)98 cited
- → Peripheral nerve hyperexcitability(2011)70 cited
- → Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot‐Marie‐Tooth disease(2010)63 cited