Argitalpenak (18) CLAUDIO CATALLI argitalpenak

2023

  1. Non-Ceruloplasmin Copper Identifies a Subtype of Alzheimer’s Disease (CuAD): Characterization of the Cognitive Profile and Case of a CuAD Patient Carrying an RGS7 Stop-Loss Variant

    International Journal of Molecular Sciences, Vol. 24, Núm. 7

2022

  1. Neuropsychological Profile of Hereditary Ataxias: Study of 38 Patients

    Archives of Clinical Neuropsychology, Vol. 37, Núm. 5, pp. 904-915

2021

  1. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

    European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073

  2. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

2020

  1. A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement

    Clinical Neurology and Neurosurgery, Vol. 195

2019

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

2018

  1. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222

2017

  1. Cognitive decline in Huntington's disease expansion gene carriers

    Cortex, Vol. 95, pp. 51-62

2014

  1. A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

    Journal of Human Genetics, Vol. 59, Núm. 3, pp. 153-157

2013

  1. Suicidal ideation in a European Huntington's disease population

    Journal of Affective Disorders, Vol. 151, Núm. 1, pp. 248-258

  2. The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients

    PLoS ONE, Vol. 8, Núm. 7

  3. β-defensin genomic copy number does not influence the age of onset in huntington’s disease

    Journal of Huntington's Disease, Vol. 2, Núm. 1, pp. 107-124

2012

  1. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

    European Journal of Human Genetics, Vol. 20, Núm. 12, pp. 1203-1208

  2. Discrepancies in reporting the CAG repeat lengths for Huntington’s disease

    European Journal of Human Genetics, Vol. 20, Núm. 1, pp. 20-26

  3. Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency

    Neurologist, Vol. 18, Núm. 5, pp. 306-309

2010

  1. Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2)

    Journal of Molecular Diagnostics, Vol. 12, Núm. 5, pp. 601-606

2008

  1. Analysis of single nucleotide polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients

    Acta Myologica, Vol. 27, Núm. DEC., pp. 82-89

  2. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

    Journal of Medical Genetics, Vol. 45, Núm. 10, pp. 639-646