Scientific publications
Publications
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2020
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STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases
- Roberto Silva Rojas
- Jocelyn Laporte
- Johann Böhm
Frontiers in Physiology ; Volume: 11
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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation
- Christine Y. Kim
- Thomas Wirth
- Cécile Hubsch
- Andrea H. Nemeth
- Volkan Okur
- Mathieu Anheim
- Nathalie Drouot
- Christine Tranchant
- Gabrielle Rudolf
- Jamel Chelly
- Katrina Tatton-Brown
- Cornelis Blauwendraat
- Jean Paul G. Vonsattel
- Etty Cortes
- Roy N. Alcalay
- Wendy K. Chung
Annals of Neurology ; Volume: 88 ; Page: 1028-1033
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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
- Gerarda Cappuccio
- Camille Sayou
- Pauline Le Tanno
- Emilie Tisserant
- Ange-Line Bruel
- Sara El Kennani
- Joaquim Sá
- Karen Low
- Cristina Dias
- Marketa Havlovicova
- Miroslava Hančárová
- Evan Eichler
- Françoise Devillard
- Sébastien Moutton
- Julien Van-Gils
- Christèle Dubourg
- Sylvie Odent
- Bénédicte Gérard
- Amélie Piton
- Toshiyuki Yamamoto
- ...
Genetics in Medicine ; Volume: 22 ; Page: 1838-1850
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The Role of Histone Variants in the Epithelial-To-Mesenchymal Transition
- Ali Hamiche
- Imtiaz Nisar Lone
- Burcu Sengez
- Stefan Dimitrov
- Hani Alotaibi
Cells ; Volume: 9 ; Page: 2499
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Brain MRI Findings in Severe COVID-19: A Retrospective Observational Study
- Stéphane Kremer
- François Lersy
- Jérome de Sèze
- Jean-Christophe Ferré
- Adel Maamar
- Béatrice Carsin-Nicol
- Olivier Collange
- Fabrice Bonneville
- Gilles Adam
- Guillaume Martin-Blondel
- Marie Rafiq
- Thomas Geeraerts
- Louis Delamarre
- Sylvie Grand
- Alexandre Krainik
- Manel Alleg
- Mathieu Anheim
- René Anxionnat
- François-Daniel Ardellier
- Seyyid Baloglu
- ...
Radiology ; Volume: 297 ; Page: E242-E251
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Le syndrome ASIA associé aux implants mammaires : lien de causalité ou association fortuite ?
- E. Cordel
- N. Reix
- C. Mathelin
Gynécologie Obstétrique Fertilité & Sénologie ; Volume: 48 ; Page: 754 - 762
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Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism
- Christine Y. Kim
- Thomas Wirth
- Cécile Hubsch
- Andrea H. Nemeth
- Volkan Okur
- Mathieu Anheim
- Nathalie Drouot
- Christine Tranchant
- Gabrielle Rudolf
- Jamel Chelly
- Katrina Tatton-Brown
- Cornelis Blauwendraat
- Jean Paul G. Vonsattel
- Etty Cortes
- Roy N. Alcalay
- Wendy K. Chung
Annals of Neurology ; Volume: 89 ; Page: 195-196
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Modular Conjugation of a Potent Anti-HER2 Immunotoxin Using Coassociating Peptides
- Audrey Stoessel
- Nadja Groysbeck
- Lucile Guyot
- Lina Barret
- Yves Nominé
- Leonel Nguekeu Zebaze
- Ambre Bender
- Laetitia Voilquin
- Thomas Lutz
- Nikita Pallaoro
- Marie Blocat
- Celia Deville
- Murielle Masson
- Guy Zuber
- Bruno Chatton
- Mariel Donzeau
Bioconjugate Chemistry ; Volume: 31 ; Page: 2421-2430
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Narrowband Modulation Two-Dimensional Mass Spectrometry and Label-Free Relative Quantification of Histone Peptides
- Matthias Halper
- Marc-André Delsuc
- Kathrin Breuker
- Maria A van Agthoven
Analytical Chemistry ; Volume: 92 ; Page: 13945-13952
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