Publicacións (20) Publicacións de Patricia Blanco Arias

2023

  1. Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant

    Neuromuscular Disorders, Vol. 33, Núm. 7, pp. 557-561

2022

  1. Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain

    Neurologia, Vol. 37, Núm. 4, pp. 257-262

2021

  1. Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene

    Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 987-989

2018

  1. Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation

    Neuromuscular Disorders, Vol. 28, Núm. 11, pp. 952-955

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  2. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

    Neuromuscular Disorders, Vol. 27, Núm. 7, pp. 667-672

2016

  1. Bilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up

    Acta Neurochirurgica, Vol. 158, Núm. 10, pp. 2023-2028

  2. Deep brain bilateral pallidal stimulation in chorea-acanthocytosis caused by a homozygous VPS13A mutation

    European Journal of Neurology

2015

  1. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Applied and Translational Genomics, Vol. 5, pp. 33-36

2012

  1. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

    Brain, Vol. 135, Núm. 5, pp. 1423-1435

  2. Actualización en la base genética de las distonías

    Revista española de trastornos del movimiento, Vol. 4, Núm. 4, pp. 22-32

  3. Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

    Muscle and Nerve, Vol. 46, Núm. 6, pp. 961-964

  4. Estudio de un caso de hipoalbuminemia severa

    Revista del laboratorio clínico, Vol. 5, Núm. 2, pp. 81-86

2011

  1. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262

2010

  1. Association study of the serotoninergic system in migraine in the Spanish population

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 1, pp. 177-184

2009

  1. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

    Human Molecular Genetics, Vol. 18, Núm. 13, pp. 2370-2377

2006

  1. Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation

    Neuromuscular Disorders, Vol. 16, Núm. 8, pp. 498-503

2004

  1. A comparative analysis of the pig, mouse, and human PCDHX genes

    Mammalian Genome, Vol. 15, Núm. 4, pp. 296-306

  2. Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains

    Mammalian Genome, Vol. 15, Núm. 1, pp. 41-52

2002

  1. The human-specific Yp11.2/Xq21.3 homology block encodes a potentially functional testis-specific TGIF-like retroposon

    Mammalian Genome, Vol. 13, Núm. 8, pp. 463-468