Publicacións (45) Publicacións de Ana Fernández Marmiesse

2020

  1. Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene

    Acta Myologica, Vol. 39, Núm. 1, pp. 24-28

  2. Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

    Frontiers in Genetics, Vol. 10

  3. PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes

    Genomics, Vol. 112, Núm. 2, pp. 1245-1256

  4. Paucisymptomatic hyperCKemia due to a mutation in the ANO5 gene

    Neurologia

2019

  1. A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

    Seizure, Vol. 71, pp. 161-165

  2. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

    Journal of Neurology, Vol. 266, Núm. 4, pp. 934-941

  3. Diagnóstico bioquímico y genético en las enfermedades metabólicas hereditarias

    Manual de pediatría (Ergon), pp. 669-672

  4. Free-access copy-number variant detection tools for targeted next-generation sequencing data

    Mutation Research - Reviews in Mutation Research, Vol. 779, pp. 114-125

  5. Mutación puntual de novo en el gen KCND3 en un paciente con ataxia crónica de inicio precoz

    Revista de Neurologia

  6. Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

    Frontiers in Neuroscience, Vol. 13

  7. Septo-optic dysplasia caused by a novel FLNA splice site mutation: A case report

    BMC Medical Genetics, Vol. 20, Núm. 1

2018

  1. A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

    Movement Disorders, Vol. 33, Núm. 6, pp. 992-999

  2. Carbohydrate status in patients with phenylketonuria

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

  3. Congenital hyperinsulinism in two siblings with ABCC8 mutation: Same genotype, different phenotypes

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 5, pp. 560-565

  4. New CTSA mutation in early infantile galactosialidosis

    Pediatrics International

  5. Ngs technologies as a turning point in rare disease resea rch , diagnosis and treatment

    Current Medicinal Chemistry, Vol. 25, Núm. 3, pp. 404-432

  6. Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy

    Acta Myologica, Vol. 37, Núm. 2, pp. 117-120

  7. Prioritization of variants detected by next generation sequencing according to the mutation tolerance and mutational architecture of the corresponding genes

    International Journal of Molecular Sciences, Vol. 19, Núm. 6

  8. SIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family

    Acta Myologica

2017

  1. Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    Journal of Human Genetics, Vol. 62, Núm. 2, pp. 185-189