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Author/Creator Stoupa, Athanasia

1. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. Issue 2 (28th September 2020)

Authors:
Bérat, Claire‐Marine; Montealegre, Sebastian; Wiedemann, Arnaud; Nuzum, Malou Le Corronc; Blondel, Amélie; Debruge, Hugo; Cano, Aline; Chabrol, Brigitte; Hoebeke, Célia; Polak, Michel; Stoupa, Athanasia; Feillet, François; Torre, Stéphanie; Boddaert, Nathalie; Bruel, Henri; Barth, Magalie; Damaj,...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 2(2021)
Page Start:
415
Record Type:
Journal Article
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2. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Issue 7 (July 2020)

Authors:
Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Casti...
Journal:
Lancet
Issue:
Volume 8:Issue 7(2020)
Page Start:
594
Record Type:
Journal Article
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3. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Issue 7 (July 2020)

Authors:
Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautam P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Casti...
Journal:
Lancet
Issue:
Volume 8:Issue 7(2020)
Page Start:
594
Record Type:
Journal Article
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4. 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. Issue 9 (September 2019)

Authors:
Groeneweg, Stefan; Peeters, Robin P; Moran, Carla; Stoupa, Athanasia; Auriol, Françoise; Tonduti, Davide; Dica, Alice; Paone, Laura; Rozenkova, Klara; Malikova, Jana; van der Walt, Adri; de Coo, Irenaeus F M; McGowan, Anne; Lyons, Greta; Aarsen, Femke K; Barca, Diana; van Beynum, Ingrid M; van de...
Journal:
Lancet
Issue:
Volume 7:Issue 9(2019)
Page Start:
695
Record Type:
Journal Article
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5. First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations. Issue 5 (November 2020)

Authors:
Stoupa, Athanasia; Al Hage Chehade, Ghada; Kariyawasam, Dulanjalee; Tohier, Celine; Bole-Feysot, Christine; Nitschke, Patrick; Thibault, Helene; Jullie, Marie-Laure; Polak, Michel; Carré, Aurore
Journal:
European journal of endocrinology
Issue:
Volume 183:Issue 5(2020)
Page Start:
K1
Record Type:
Journal Article
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8. TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology. Issue 12 (19th November 2018)

Authors:
Stoupa, Athanasia; Adam, Frédéric; Kariyawasam, Dulanjalee; Strassel, Catherine; Gawade, Sanjay; Szinnai, Gabor; Kauskot, Alexandre; Lasne, Dominique; Janke, Carsten; Natarajan, Kathiresan; Schmitt, Alain; Bole‐Feysot, Christine; Nitschke, Patrick; Léger, Juliane; Jabot‐Hanin, Fabienne; Tores, Fr...
Journal:
EMBO molecular medicine
Issue:
Volume 10:Issue 12(2018)
Page Start:
n/a
Record Type:
Journal Article
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