Publicaciones en colaboración con investigadores/as de University Medical Center Freiburg (14)

2024

  1. The “Woundosome” Concept and Its Impact on Procedural Outcomes in Patients With Chronic Limb-Threatening Ischemia

    Journal of Endovascular Therapy

2020

  1. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    Journal of Molecular Diagnostics, Vol. 22, Núm. 9, pp. 1205-1215

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. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

2013

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

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

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

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

  2. Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

    Nature Genetics

2010

  1. Deferasirox in iron-overloaded patients with transfusion-dependent myelodysplastic syndromes: Results from the large 1-year EPIC study

    Leukemia Research, Vol. 34, Núm. 9, pp. 1143-1150

2008

  1. The Provisional Paediatric Rheumatology International Trials Organisation/American College of Rheumatology/European League Against Rheumatism disease activity core set for the evaluation of response to therapy in juvenile dermatomyositis: A prospective validation study

    Arthritis Care and Research, Vol. 59, Núm. 1, pp. 4-13

2007

  1. Clinical and molecular phenotype of Aicardi-Goutières syndrome

    American Journal of Human Genetics, Vol. 81, Núm. 4, pp. 713-725

2001

  1. Systemic lupus erythematosus [6]

    Lancet