Publications and ressources

Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells.

Gaël Ménasché

Source : Nat Commun

2020 Apr 23

Pmid : 32286311

New Publication

Source :

Pmid : 32286311

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

Sophie Thomas

Source : Am. J. Hum. Genet.

2020 May 15

Pmid : 32413283

Inherited human IFN-γ deficiency underlies mycobacterial disease.

Jacinta Bustamante

Source : J. Clin. Invest.

2020 May 11

Pmid : 32163377

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.

Nadia Bahi-Buisson, Camille Maillard

Source : Eur J Med Genet

2019 Feb 22

Pmid : 30121372

Mutations in TBR1 gene leads to cortical malformations and intellectual disability.

Nadia Bahi-Buisson, Camille Maillard

Source : Eur J Med Genet

2019 Feb 22

Pmid : 30268909

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Nadia Bahi-Buisson, Camille Maillard

Source : Neurol Genet

2019 Nov 20

Pmid : 30533527

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Lydie Burglen, Nadia Bahi-Buisson

Source : Neuron

2019 Aug 8

Pmid : 30449657

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Nadia Bahi-Buisson

Source : Brain

2019 Dec 10

Pmid : 30879067

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Nadia Bahi-Buisson

Source : Eur J Med Genet

2019 Feb 22

Pmid : 30315939

Activity-dependent death of transient Cajal-Retzius neurons is required for functional cortical wiring.

Alessandra Pierani, Martina Riva

Source : Elife

2020 Jan 8

Pmid : 31891351