Pauline Burger
11 Papers
Pauline Burger is an academic researcher. The author has contributed to research in topics: Intellectual disability & Medicine. The author has an hindex of 2, co-authored 5 publications.
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Papers
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
Pauline Burger,Florent Colin,Axelle Strehle,Timothée Mazzucotelli,Nicole Collot,Romain Coutelle,B. Durand,A. C. Bouman,Daphna Landau Prat,Tjitske Kleefstra,Pierre Parrend,Amélie Piton,David A. Koolen,Jean-Louis Mandel +13 more
TL;DR: GenIDA as mentioned in this paper is an online participatory database that aims to better characterise the clinical manifestations and natural histories of these rare diseases, which often remain insufficiently described in terms of clinical spectrum, associated medical problems, etc., due to their rarity and the often limited number of patients' phenotypes reported.
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Bertrand Mollereau,Susan J. Hayflick,Ricardo Escalante,Mario Mauthe,Apostolos Papandreou,Arcangela Iuso,Marion Celle,Sahra Aniorte,Abdul Raouf Issa,Jean-Paul Lasserre,Gaetan Lesca,Stéphane Thobois,Pauline Burger,Ludivine Walter +13 more
TL;DR: Beta-propeller protein-associated neurodegeneration is one of the few human monogenic neurological diseases targeting a regulator of autophagy, which raises the possibility that it is a relevant model to directly assess the roles of autphagy in neurodegenersation and to develop autophagic restorative therapeutic strategies for more common disorders.
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The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDA
Romain Coutelle,Morgane Boedec,Karlijn Vermeulen,Joost Kummeling,David A. Koolen,Tjitske Kleefstra,Camille Fournier,Florent Colin,Axelle Strehle,David Geneviève,Pauline Burger,Jean-Louis Mandel +11 more
TL;DR: In this paper , the authors conducted an international online survey about the impact of COVID-19-associated first lockdown on people with genetic neurodevelopmental disorders and found that the negative impact of lockdown does not depend on the intellectual disability per se but on the associated comorbidities such as behavioural disorders.
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver reported information on 237 individuals with Koolen-de Vries syndrome
Florent Colin,Pauline Burger,Timothée Mazzucotelli,Axelle Strehle,Joost Kummeling,Nicole Collot,Elyette Broly,Angela T Morgan,Kenneth A. Myers,Agnès Bloch-Zupan,Charlotte W. Ockeloen,Bert B.A. de Vries,Tjitske Kleefstra,Pierre Parrend,David A. Koolen,Jean-Louis Mandel +15 more
- 01 May 2023
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Ocular manifestations in Koolen–de Vries syndrome: an international study
Dafna Shalev,David A. Koolen,Bert B.A. de Vries,S. B. Meirovitch,Jean-Louis Mandel,Pauline Burger,Alik Rosenfeld,Guy J. Ben Simon,Daphna Prat +8 more
TL;DR: A high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular reticular dystrophy is described for the first time.
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