A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathyNEUROPATHOLOGY AND APPLIED NEUROBIOLOGYIF3.42022-04-108OAAI
Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral centerANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGYIF3.92021-07-298OAAI
Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor NeuropathyNEUROLOGYIF8.52021-01-195PREAI
Antibodies against nodo-paranodal proteins are not present in genetic neuropathiesNEUROLOGYIF8.52020-07-289OA
A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4JOURNAL OF THE NEUROLOGICAL SCIENCESIF3.22019-07-018PREAI
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutationsJOURNAL OF MEDICAL GENETICSIF3.72018-11-1018OAAI
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 geneJOURNAL OF THE NEUROLOGICAL SCIENCESIF3.22018-04-0120PREAI
Distribution and genotype-phenotype correlation of GDAP1 mutations in SpainSCIENTIFIC REPORTSIF3.92017-07-2723OAAI
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutationJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRYIF7.52016-04-1514PREAI
Embolism and impaired washout: A possible explanation of border zone strokes in hypereosinophilic syndromeJOURNAL OF THE NEUROLOGICAL SCIENCESIF3.22013-02-0120PREAI
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