Journal articles
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation
Marion Coolen
1
Nami Altin
1
Karthyayani Rajamani
1
Eva Pereira
1
Karine Siquier-Pernet
Emilia Puig Lombardi
1
Nadjeda Moreno
2
Giulia Barcia
1
Marianne Yvert
3
Annie Laquerrière
4
Aurore Pouliet
1
Patrick Nitschké
1
Nathalie Boddaert
1
Antonio Rausell
1
Féréchté Razavi
5
Alexandra Afenjar
6
Thierry Billette de Villemeur
7
Almundher Al-Maawali
8
Khalid Al-Thihli
8
Julia Baptista
9
Ana Beleza-Meireles
10
Catherine Garel
6
Marine Legendre
11
Antoinette Gelot
12
Lydie Burglen
1
Sébastien Moutton
3
Vincent Cantagrel
1
Karine Siquier-Pernet
Author
Emilia Puig Lombardi 1
Author
Nadjeda Moreno 2
Author
Giulia Barcia 1
Author
Marianne Yvert 3
Author
Annie Laquerrière 4
Author
Aurore Pouliet 1
Author
Patrick Nitschké 1
Author
Nathalie Boddaert 1
Author
Antonio Rausell 1
Author
Féréchté Razavi 5
Author
Alexandra Afenjar 6
Author
Thierry Billette de Villemeur 7
Author
Almundher Al-Maawali 8
Author
Khalid Al-Thihli 8
Author
Julia Baptista 9
Author
Ana Beleza-Meireles 10
Author
Catherine Garel 6
Author
Marine Legendre 11
Author
Antoinette Gelot 12
Author
Lydie Burglen 1
Author
Sébastien Moutton 3
Author
Vincent Cantagrel 1
Author ORCID : https://orcid.org/0000-0002-5180-4848
1
Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU) (IHU Imagine,
156 rue de Vaugirard, 75015 PARIS
et
24 Boulevard du Montparnasse, 75015 Paris - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1163 (101, rue de Tolbiac, 75013 Paris - France)
- UPC - Université Paris Cité : UMR_S 1163 (85 boulevard Saint-Germain 75006 Paris - France)
2
UCL - Great Ormond Street Institute of Child Health (London - United Kingdom)
- UCL - University College of London [London] (Gower Street, London WC1E 6BT - United Kingdom)
3
MSPB - Maison de Santé Protestante de Bordeaux-Bagatelle (Talence - France)
4
UNIROUEN - Université de Rouen Normandie (1, rue Thomas Becket 76821 Mont-Saint-Aignan Cedex - France)
- NU - Normandie Université (Esplanade de la Paix - CS 14032 - 14032 Caen Cedex 5 - France)
5
URC, hôpital Necker Enfants Maladies, Paris (France)
7
SU - Sorbonne Université (21 rue de l’École de médecine - 75006 Paris - France)
8
SQU - Sultan Qaboos University (Sultan Qaboos University P.O. Box 50 Muscat 123 Sultanate of Oman - Oman)
9
Peninsula Medical School (France)
10
University Hospitals Bristol (France)
11
Hôpital des Enfants - Groupe hospitalier Pellegrin - CHU de Bordeaux (Place Amélie Raba Léon, 33000 Bordeaux. - France)
12
INMED - INSERM U1249 - Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (Parc scientifique de Luminy - 163, route de Luminy - BP13 - 13273 Marseille cedex 09. - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale (101, rue de Tolbiac, 75013 Paris - France)
- AMU - Aix Marseille Université (Aix-Marseille Université Jardins du Pharo 58 Boulevard Charles Livon 13284 Marseille cedex 7 - France)
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Journal articles
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https://hal-amu.archives-ouvertes.fr/hal-03654319
Contributor : Christophe Pellegrino Connect in order to contact the contributor
Submitted on : Thursday, April 28, 2022 - 3:11:50 PM
Last modification on : Monday, May 16, 2022 - 3:33:56 AM
Contributor : Christophe Pellegrino Connect in order to contact the contributor
Submitted on : Thursday, April 28, 2022 - 3:11:50 PM
Last modification on : Monday, May 16, 2022 - 3:33:56 AM
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- HAL Id : hal-03654319, version 1
- DOI : 10.1016/j.ajhg.2022.03.010
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Citation
Marion Coolen, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, et al.. Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation. American Journal of Human Genetics, Elsevier (Cell Press), 2022, ⟨10.1016/j.ajhg.2022.03.010⟩. ⟨hal-03654319⟩
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