Scientific publications
Publications
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2017
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Article in a journal
Rodent models in Down syndrome research: impact and future opportunities
- Yann Herault
- Jean M. Delabar
- Elizabeth M. C. Fisher
- Victor L. J. Tybulewicz
- Eugene Yu
- Veronique Brault
Disease Models & Mechanisms ; Volume: 23 ; Page: 578-589
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Article in a journal
Comparative performance analysis of human iPSC-derived and primary neural progenitor cells (NPC) grown as neurospheres in vitro
- Maxi Hofrichter
- Laura Nimtz
- Julia Tigges
- Yaschar Kabiri
- Friederike Schroter
- Brigitte Royer-Pokora
- Barbara Hildebrandt
- Martin Schmuck
- Alexey Epanchintsev
- Stephan Theiss
- James Adjaye
- Jean-Marc Egly
- Jean Krutmann
- Ellen Fritsche
Stem Cell Research ; Volume: 25 ; Page: 72-82
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Article in a journal
Prise en charge des cancers du sein : le changement, c’est maintenant ! [Breast cancer management: The change is now!]
- Carole Mathelin
- Elisabeth Luporsi
Gynécologie Obstétrique Fertilité & Sénologie ; Volume: 45 ; Page: 3-4
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Article in a journal
Detecting Spatial Chromatin Organization by Chromosome Conformation Capture II: Genome-Wide Profiling by Hi-C
- Matteo Viettri Rudan
- Suzana Hadjur
- Thomas Sexton
Methods in Molecular Biology ; Volume: 1589 ; Page: 47-74
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Article in a journal
A novel recurrent LIS1 splice site mutation in classic lissencephaly
- Marion Philbert
- Camille Maillard
- Mara Cavallin
- Alice Goldenberg
- Cecile Masson
- Nathalie Boddaert
- Adrienne El Morjani
- Julie Steffann
- Jameleddine Chelly
- Xavier Gerard
- Nadia Bahi-Buisson
American Journal of Medical Genetics Part A ; Volume: 173 ; Page: 561-564
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Article in a journal
BRG1-SWI/SNF-dependent regulation of the Wt1 transcriptional landscape mediates epicardial activity during heart development and disease
- Joaquim Vieira
- Sara Howard
- Cristina Villa del Campo
- Sveva Bollini
- Karina Dubé
- Megan Masters
- Damien Barnette
- Mala Rohling
- Xin Sun
- Laura Hankins
- Daria Gavriouchkina
- Ruth Williams
- Daniel Metzger
- Pierre Chambon
- Tatjana Sauka-Spengler
- Benjamin Davies
- Paul Riley
Nature Communications ; Volume: 8
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Article in a journal
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
- Elisa Giorgio
- Giovanna Vaula
- Paolo Benna
- Nicola Lo Buono
- Chiara Eandi
- Daniele Dino
- Cecilia Mancini
- Simona Cavalieri
- Eleonora Di Gregorio
- Elisa Pozzi
- Marta Ferrero
- Maria Giordana
- Christel Depienne
- Alfredo Brusco
Journal of neurology, neurosurgery, and psychiatry ; Volume: 88 ; Page: 894-896
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Article in a journal
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
- Vanessa Schartner
- Norma Romero
- Sandra Donkervoort
- Susan Treves
- Pinki Munot
- Tyler Pierson
- Ivana Dabaj
- Edoardo Malfatti
- Irina Zaharieva
- Francesco Zorzato
- Osario Abath Neto
- Guy Brochier
- Xavière Lornage
- Bruno Eymard
- Ana Taratuto
- Johann Böhm
- Hernan Gonorazky
- Leigh Ramos-Platt
- Lucy Feng
- Rahul Phadke
- ...
Acta Neuropathologica ; Volume: 133 ; Page: 517-533
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Article in a journal
Dissecting mechanism of coupled folding and binding of an intrinsically disordered protein by chemical synthesis of conformationally constrained analogues
- Boris Schmidtgall
- Olivier Chaloin
- Valentin Bauer
- Manuela Sumyk
- Catherine Birck
- Vladimir Torbeev
Chemical Communications ; Volume: 53 ; Page: 7369-7372
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Article in a journal
Distinct retinoic acid receptor (RAR) isotypes control differentiation of embryonal carcinoma cells to dopaminergic or striatopallidal medium spiny neurons
- Anna Podleśny-Drabiniok
- Joanna Sobska
- Angel de Lera
- Krystyna Golembiowska
- Katarzyna Kaminska
- Pascal Dolle
- Małgorzata Cebrat
- Wojciech Krężel
Scientific Reports ; Volume: 7 ; Page: 13671
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