Publicacións nas que colabora con Francisco Martínez Azorín (15)

2022

  1. First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

    Human Mutation, Vol. 43, Núm. 10, pp. 1361-1367

2021

  1. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

    Molecular Genetics and Metabolism, Vol. 133, Núm. 2, pp. 201-210

  2. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

    Brain, Vol. 144, Núm. 9, pp. 2722-2731

2020

  1. A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

    Journal of Genetics, Vol. 99, Núm. 1

  2. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia

    American Journal of Medical Genetics, Part A, Vol. 182, Núm. 6, pp. 1483-1490

2019

  1. A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

    European Journal of Human Genetics, Vol. 27, Núm. 9, pp. 1369-1378

  2. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

    American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 721-730

2018

  1. Author’s Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome

    Pediatric and Developmental Pathology

  2. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation

    Journal of Human Genetics, Vol. 63, Núm. 4, pp. 525-528

2017

  1. Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene

    Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420

  2. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

    Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53

2016

  1. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

    Neurogenetics, Vol. 17, Núm. 1, pp. 51-56

  2. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

    Neurogenetics, Vol. 17, Núm. 4, pp. 259-263

2013

  1. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

    BMC Nephrology, Vol. 14, Núm. 1

  2. Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

    Human Mutation, Vol. 34, Núm. 12, pp. 1623-1627