J.M. Pardal-Fernández

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Peter Hackman, Sylvie Marchand, J. Sarparanta et al. · Neuromuscular Disorders · 2008 · 104 citations

Genetics, Pathology, Degenerative Disease +2

EEG characterization of audiogenic seizures in the hamster strain GASH:Sal

Melissa M. Carballosa-Gonzalez, Luis J. Muñoz, Tomás López‐Alburquerque et al. · Epilepsy Research · 2013 · 26 citations

Neuropsychology, Neurophysiology, Physiology +11

A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20

J.M. Pardal-Fernández, M.C. Carrascosa-Romero, Sara Álvarez et al. · Neuromuscular Disorders · 2018 · 22 citations

New Severe Mutation, Developmental Biology, Mendelian Disorder +8

Opposite caudal versus rostral brain nitric oxide synthase response to generalized seizures in a novel rodent model of reflex epilepsy

Ana I. Prieto-Martín, Sílvia Llorens, J.M. Pardal-Fernández et al. · Life Sciences · 2012 · 18 citations

Novel Rodent Model, Neurophysiology, Neuroanatomy +12

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1

Beatriz G. Giráldez, Rosa Guerrero, Laura Ortega-Moreno et al. · Neuromuscular Disorders · 2014 · 17 citations

Uniparental Disomy, Mendelian Disorder, T Mutation +12