Publications in collaboration with researchers from Hospital de São João (14)

2019

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

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

  2. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

2018

  1. Long-term safety of in utero exposure to anti-TNFα drugs for the treatment of inflammatory bowel disease: Results from the multicenter European TEDDY study

    American Journal of Gastroenterology, Vol. 113, Núm. 3, pp. 396-403

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

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

  3. Targets and teamwork: Understanding differences in pediatric diabetes centers treatment outcomes

    Pediatric Diabetes, Vol. 19, Núm. 3, pp. 559-565

2017

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

    Cortex, Vol. 95, pp. 51-62

2014

  1. Echocardiographic reference ranges for normal cardiac chamber size: Results from the NORRE study

    European Heart Journal Cardiovascular Imaging, Vol. 15, Núm. 6, pp. 680-690

2013

  1. Lessons from the Hvidoere International Study Group on childhood diabetes: Be dogmatic about outcome and flexible in approach

    Pediatric Diabetes, Vol. 14, Núm. 7, pp. 473-480

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

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

2010

  1. Recommendations and management of type i hereditary or hepatorenal tyrosinemia

    Anales de Pediatria, Vol. 73, Núm. 5

2000

  1. Fetal cardiotocography during cesarean section (multiple letters)

    European Journal of Obstetrics and Gynecology and Reproductive Biology

1995

  1. Factors influencing the immediate and late outcome of Cushing's disease treated by transsphenoidal surgery: A retrospective study by the European Cushing's Disease Survey Group

    Journal of Clinical Endocrinology and Metabolism, Vol. 80, Núm. 11, pp. 3114-3120