Résultat de recherche

AK2 deficiency compromises the mitochondrial energy metabolism required for differentiation of human neutrophil and lymphoid lineages.

Emmanuelle SIX, Chantal LAGRESLE-PEYROU, Corinne de Chappedelaine, Alain Fischer, Isabelle André, Marina Cavazzana

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Human T-lymphoid progenitors generated in a feeder-cell-free Delta-like-4 culture system promote T-cell reconstitution in NOD/SCID/γc(-/-) mice.

Emmanuelle SIX, Chantal LAGRESLE-PEYROU, Corinne de Chappedelaine, Marina Cavazzana, Isabelle André

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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Vincent Cantagrel

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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

Vincent Cantagrel

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Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

Vincent Cantagrel

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Innate immune cells, major actors of sickle cell disease pathophysiology.

Olivier Hermine, Thiago Trovati Maciel

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A novel, highly potent and selective phosphodiesterase-9 inhibitor for the treatment of sickle cell disease.

Olivier Hermine, Thiago Trovati Maciel

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Enhanced Renewal of Erythroid Progenitors in Myelodysplastic Anemia by Peripheral Serotonin.

Francine Côté, Olivier Hermine

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