Publications and ressources

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Jean-Michel Rozet

Source :

Pmid / DOI:

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Marina Cavazzana, Alain Fischer, Despina Moshous, Bénédicte Neven, Felipe Suarez, Sven KRACKER

Source :

Pmid / DOI:

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Marina Cavazzana, Alain Fischer, Despina Moshous, Bénédicte Neven, Felipe Suarez, Sven KRACKER

Source :

Pmid / DOI:

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

Jean-Michel Rozet

Source :

Pmid / DOI:

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.

Nabil Kaci, Meriem Garfa-Traoré , Emilie Dambroise, Laurence Legeai-Mallet

Source :

Pmid / DOI:

Single-cell analysis reveals the continuum of human lympho-myeloid progenitor cells.

Emmanuelle SIX

Source :

Pmid / DOI:

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

Edor Kabashi

Source :

Pmid / DOI:

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Matias Simons

Source :

Pmid / DOI:

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin, Isabelle PERRAULT

Source :

Pmid / DOI:

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin

Source :

Pmid / DOI:

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Meriem Garfa-Traoré , Aurore POULIET, Nathalie Boddaert, Stanislas Lyonnet, Jean-Michel Rozet, Sandrine Marlin

Source :

Pmid / DOI:

A predictive model of asymmetric morphogenesis from 3D reconstructions of mouse heart looping dynamics.

Audrey Desgrange, Sigolène Meilhac

Source :

Pmid / DOI:

Targeted Inactivation of Bax Reveals a Subtype-Specific Mechanism of Cajal-Retzius Neuron Death in the Postnatal Cerebral Cortex.

Alessandra Pierani

Source :

Pmid / DOI:

Single-cell analysis identifies cellular markers of the HIV permissive cell.

Antonio Rausell

Source :

Pmid / DOI:

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.

Sophie Saunier

Source :

Pmid / DOI: