User profiles for G. Friocourt
Gaëlle FriocourtInserm UMR1078 Verified email at univ-brest.fr Cited by 3802 |
Doublecortin functions at the extremities of growing neuronal processes
G Friocourt, A Koulakoff, P Chafey, D Boucher… - Cerebral …, 2003 - academic.oup.com
Type I lissencephaly is a cortical malformation disorder characterized by disorganized
cortical layers and gyral abnormalities and associated with severe cognitive impairment and …
cortical layers and gyral abnormalities and associated with severe cognitive impairment and …
[HTML][HTML] Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons
…, D Boucher, P Chafey, B Schaar, MC Vinet, G Friocourt… - Neuron, 1999 - cell.com
Recently, we and others reported that the doublecortin gene is responsible for X-linked
lissencephaly and subcortical laminar heterotopia. Here, we show that Doublecortin is expressed …
lissencephaly and subcortical laminar heterotopia. Here, we show that Doublecortin is expressed …
[HTML][HTML] Mutations in ARX result in several defects involving GABAergic neurons
G Friocourt, JG Parnavelas - Frontiers in cellular neuroscience, 2010 - frontiersin.org
Genetic investigations of X-linked mental retardation have demonstrated the implication of
ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal …
ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal …
The role of ARX in cortical development
G Friocourt, K Poirier, S Rakić… - European Journal of …, 2006 - Wiley Online Library
The ARX protein (encoded by the aristaless‐related homeobox gene) is a member of the
paired class of homeoproteins. More precisely, it is a member of the Aristaless subclass of …
paired class of homeoproteins. More precisely, it is a member of the Aristaless subclass of …
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
T Bienvenu, K Poirier, G Friocourt, N Bahi… - Human molecular …, 2002 - academic.oup.com
… In the T4-MRX family we identified a missense mutation: an A to G transition in ARX resulting
in a … An additional missense mutation: a G to A transition resulting in a G (GGC) to S (AGC) …
in a … An additional missense mutation: a G to A transition resulting in a G (GGC) to S (AGC) …
A new gene involved in X-linked mental retardation identified by analysis of an X; 2 balanced translocation
…, F Francis, P Chafey, F Fauchereau, G Friocourt… - Nature …, 2000 - nature.com
… The mutation is a G→T (in exon 6 at position 652 of the coding cDNA sequence) transition
that leads to a premature stop. The arrow indicates the position of the mutation on the …
that leads to a premature stop. The arrow indicates the position of the mutation on the …
Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration
G Friocourt, JS Liu, M Antypa, S Rakić… - Journal of …, 2007 - Soc Neuroscience
Type I lissencephaly, a genetic disease characterized by disorganized cortical layers and
gyral abnormalities, is associated with severe cognitive impairment and epilepsy. Two genes, …
gyral abnormalities, is associated with severe cognitive impairment and epilepsy. Two genes, …
Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis
G Friocourt, S Kanatani, H Tabata, M Yozu… - Journal of …, 2008 - Soc Neuroscience
The aristaless-related homeobox (ARX) gene has been implicated in a wide spectrum of
disorders ranging from phenotypes with severe neuronal migration defects, such as …
disorders ranging from phenotypes with severe neuronal migration defects, such as …
IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis
N Bahi, G Friocourt, A Carrie, ME Graham… - Human Molecular …, 2003 - academic.oup.com
Previously, human genetics-based approaches allowed us to show that mutations in the IL-1
receptor accessory protein-like gene (IL1RAPL) are responsible for a non-specific form of X-…
receptor accessory protein-like gene (IL1RAPL) are responsible for a non-specific form of X-…
Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons
K Poirier, H Van Esch, G Friocourt, Y Saillour… - Molecular brain …, 2004 - Elsevier
Recent human genetics approaches identified the Aristaless-related homeobox (ARX) gene
as the causative gene in X-linked infantile spasms, Partington syndrome, and non-…
as the causative gene in X-linked infantile spasms, Partington syndrome, and non-…