An Adult Female With Resistance to Thyroid Hormone Mediated by Defective Thyroid Hormone Receptor α

Carla Moran, Nadia Schoenmakers, Maura Agostini, +14

The Journal of Clinical Endocrinology & Metabolism

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients

Carla Moran, Maura Agostini, W. Edward Visser, +13

The Lancet Diabetes & Endocrinology

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Stefan Groeneweg, Robin P. Peeters, Carla Moran, +43

The Lancet Diabetes & Endocrinology

Iodine Deficiency DisordersPharmacologyMct8 DeficiencyTri-iodothyronine Analogue TriacThyroid Hormone +1

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı, +85

The Lancet Diabetes & Endocrinology

Disease CharacteristicsDisease MechanismGenetic DisorderImmunodeficienciesPathogenesis +8

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

Erik Schoenmakers, Bradley A. Carlson, Maura Agostini, +13

Journal of Clinical Investigation

Reductive StressSystems BiologyTrna MutationNatural SciencesGenetics +12

Safety and efficacy of bexarotene in patients with relapsing-remitting multiple sclerosis (CCMR One): a randomised, double-blind, placebo-controlled, parallel-group, phase 2a study

J William L Brown, Nick Cunniffe, Ferrán Prados, +21

The Lancet Neurology

Relapsing-remitting Multiple SclerosisMedicineClinical NeurologyClinical TrialsNeurological Progress +5

Alemtuzumab-Induced Thyroid Dysfunction Exhibits Distinctive Clinical and Immunological Features

Nadia Pariani, Mark Willis, Ilaria Muller, +10

The Journal of Clinical Endocrinology & Metabolism

Central pontine myelinolysis complicating treatment of the hyperglycaemic hyperosmolar state

Gráinne O’Malley, Carla Moran, Mohd Shazli Draman, +3

Annals of Clinical Biochemistry International Journal of Laboratory Medicine

Electrolyte DisorderCentral Pontine MyelinolysisNeurological DisorderCerebral Vascular RegulationNeurovascular Disease +15

Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins

Carla Moran, Maura Agostini, Anne McGowan, +10

Thyroid

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

Ferdy S. van Geest, Stefan Groeneweg, Erica L T van den Akker, +59

The Journal of Clinical Endocrinology & Metabolism