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Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Jullien L. Kannengiesser C, Kermasson L, Cormier- Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P.

Hum Mutat 2016 37(5):469-72.


New algorithm using Arterial spin labeling (ASL) to classify brain tumors in children: First correlations using quantitative MRI perfusion and neuropathological data.

Volodia Dangouloff-Ros. David Grévent, Raphael Calmon, Caroline Elie, Stéphanie Puget, Christian Sainte-Rose, Thomas Blauwblomme, Christelle Duffour, Francis Brunelle, Badoual, M Zerah, Jacques Grill, Pascale Varlet, Nathalie Boddaert.

Radiology. 2016 March 2016.


Tuning Eye-Gaze Perception by Transitory STS Inhibition.

Saitovitch A. Popa T, Lemaitre H, Rechtman E, Lamy JC, Grévent D, Calmon R, Meunier S, Brunelle F, Samson Y, Boddaert N, Zilbovicius M.

Cereb Cortex. 2016 26(6): 2823–2831


Specific T cells for the treatment of cytomegalovirus and/or adenovirus in the context of hematopoietic stem cell transplantation.

Creidy R. Moshous D, Touzot F, Elie C, Neven B, Gabrion A, Ville ML, Maury S, Ternaux B, Nisoy J, Luby JM, Héritier S, Dalle JH, Ouachée-Chardin M, Xhaard A, Thomas X, Chevallier P, Souchet L, Treluyer JM, Picard C, Hacein-Bey-Abina S, Cortivo LD, Blanche S, Cavazzana M.

J Allergy Clin Immunol. 2016 138(3):920-924.e3.


Actin Dynamics Regulates Dendritic Cell-Mediated Transfer of HIV-1 to T Cells

Ménager MM, Littman DR., Littman DR.

Cell, 2016 pii: S0092-8674(15)01700-6. doi: 10.1016/j.cell.2015.12.036. PMID:26830877


Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Cavallin M Cavallin M, Hubert L, Cantagrel V, Munnich A, Boddaert N, Vincent-Delorme C, Cuvellier JC, Masson C, Besmond C, Bahi-Buisson N.

Neurogenetics. 2016 17(1):79-82.


Targeted inactivation of Bax reveals subtype-specific mechanism of Cajal-Retzius neuron death in the postnatal cerebral cortex.

Ledonne F. Ledonne F., Orduz D., Mercier J., Vigier L., Grove E.A., Tissir F., Angulo M.C., Pierani A. and Coppola E.

Cell Reports. 2016 17, 3133-3141.


APOL1 mediated eukaryotic cell injury involves disruption of conserved intracellular trafficking processes

Skorecki K, Kruzel-Davila E, Shemer R, Ofir A, Bavli-Kertselli I, Darlyuk-Saadon I, Oren-Giladi P, Wasser WG, Magen D, Zaknoun E, Schuldiner M, Salzberg A, Kornitzer D, Marelja Z, Simons M

Journal of the American Society of Nephrology 2016 pii: ASN.2016050546. [Epub ahead of print]


Recessive and Dominant de novo ITPR1 Mutations Cause Gillespie Syndrome

Fares Taie L Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM

Am J Hum Genet. 2016 98(5):971-80


Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Acevedo Arozena A et al Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H

Autophagy. 2016 12(1):1-222


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