Concepedia

María José Chumillas

MJ

Statistics

Publications

15

Citations

1.1K

H-Index

15

Active since

1993

Affiliations

Hospital Universitari i Politècnic La Fe(Current)

Centro de Investigación Biomédica en Red

Centre for Biomedical Network Research on Rare Diseases

Universitat de València

Instituto de Investigación Sanitaria La Fe

María José Chumillas is an author at Hospital Universitari i Politècnic La Fe specializing in medicine, pathology, and neurology.

Top concepts

MedicinePathologyGeneticsNeurologyNeuroscienceNeuropathologyRare DiseasesClinical GeneticsMolecular GeneticsNeuromuscular Pathology

Publications per year

1993–2019

15

Publications

15

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

Ana Cuesta, Laia Pedrola, Teresa Sevilla et al. · Nature Genetics · 2001 · 359 citations

Developmental Biology, Genetics, Experimental Neuropathology +5

Charcot-Marie-Tooth disease

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

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

Peripheral nerve hyperexcitability

I. Rubio-Agusti, Francisco Pérez‐Miralles, Teresa Sevilla et al. · Neurology · 2011 · 70 citations

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