Maria J. Chumillas
Valencia, VC, Spain
Last Updated: 09/26/2026
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Found 11 publications
Facial onset sensory and motor neuronopathy: a motor neuron disease with an oligogenic origin?
Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: March 21, 2019
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Journal: Journal of medical genetics
Published: July 31, 2018
Quantitative neuromuscular ultrasound analysis as biomarkers in amyotrophic lateral sclerosis.
Journal: European radiology
Published: July 30, 2018
New insights into the pathophysiology of fasciculations in amyotrophic lateral sclerosis: An ultrasound study.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: April 26, 2018
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
Journal: Journal of the neurological sciences
Published: November 07, 2017
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Journal: Scientific reports
Published: April 12, 2017
Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravis.
Journal: Neurology
Published: September 27, 2016
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: December 10, 2015
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
Journal: Brain : a journal of neurology
Published: May 25, 2015
The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.
Journal: European journal of neurology
Published: March 27, 2015
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Journal: Neurology
Published: October 01, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026