P Cacciagli

Affiliations

Inserm, GMGF, UMR_S 910, faculté de médecine, Aix-Marseille university, 13085 Marseille, France; Department of medical genetics, hôpital de La Timone, AP-HM, 13085 Marseille, France.

Publications (6)

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Human molecular genetics

Avec: Elham Khosrowabadi , Cécile Mignon-Ravix , Florence Riccardi , Pierre Cacciagli , Béatrice Desnous , Sabine Sigaudy , Mathieu Milh , Laurent Villard , Lena Kjellén , Florence Molinari

The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: M-V André , P Cacciagli , A Cano , L Vaugier , M Roussel , N Girard , B Chabrol , L Villard , M Milh

TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.

Journal of medical genetics

Avec: Mario Abaji , Cécile Mignon-Ravix , Svetlana Gorokhova , Pierre Cacciagli , Jérémie Mortreux , Florence Molinari , Brigitte Chabrol , Sabine Sigaudy , Laurent Villard , Florence Riccardi

Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria.

European journal of human genetics : EJHG

Avec: Bilal El Waly , Cécile Mignon-Ravix , Pierre Cacciagli , Emmanuelle Buhler , Bruria Ben Zeev , Laurent Villard

Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.

Epilepsia

Avec: Julien Denis , Nathalie Villeneuve , Pierre Cacciagli , Cecile Mignon-Ravix , Caroline Lacoste , Jeremie Lefranc , Sylvia Napuri , Lena Damaj , Frederic Villega , Jean-Michel Pedespan , Sebastien Moutton , Cyril Mignot , Diane Doummar , Laurence Lion-François , Svetlana Gataullina , Olivier Dulac , Melanie Martin , Sophie Gueden , Gaetan Lesca , Sophie Julia , Claude Cances , Hubert Journel , Cecilia Altuzarra , Bruria Ben Zeev , Alexandra Afenjar , Magalie Barth , Laurent Villard , Mathieu Milh

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Epilepsia

Avec: Cécile Mignon-Ravix , Florence Riccardi , Géraldine Daquin , Pierre Cacciagli , Sylvie Lamoureux-Toth , Laurent Villard , Nathalie Villeneuve , Florence Molinari

Réseau de co-auteurs

Pierre Cacciagli 5 collaborations

Laurent Villard 5 collaborations

Cécile Mignon-Ravix 4 collaborations

Florence Riccardi 3 collaborations

Florence Molinari 3 collaborations

Sabine Sigaudy 2 collaborations

Mathieu Milh 2 collaborations

Bruria Ben Zeev 2 collaborations

Nathalie Villeneuve 2 collaborations

Elham Khosrowabadi 1 collaboration

Béatrice Desnous 1 collaboration

Lena Kjellén 1 collaboration

M-V André 1 collaboration

A Cano 1 collaboration

L Vaugier 1 collaboration

M Roussel 1 collaboration

N Girard 1 collaboration

B Chabrol 1 collaboration

L Villard 1 collaboration

M Milh 1 collaboration

Mario Abaji 1 collaboration

Svetlana Gorokhova 1 collaboration

Jérémie Mortreux 1 collaboration

Brigitte Chabrol 1 collaboration

Bilal El Waly 1 collaboration

Emmanuelle Buhler 1 collaboration

Julien Denis 1 collaboration

Cecile Mignon-Ravix 1 collaboration

Caroline Lacoste 1 collaboration

Jeremie Lefranc 1 collaboration

Sylvia Napuri 1 collaboration

Lena Damaj 1 collaboration

Frederic Villega 1 collaboration

Jean-Michel Pedespan 1 collaboration

Sebastien Moutton 1 collaboration

Cyril Mignot 1 collaboration

Diane Doummar 1 collaboration

Laurence Lion-François 1 collaboration

Svetlana Gataullina 1 collaboration

Olivier Dulac 1 collaboration

Melanie Martin 1 collaboration

Sophie Gueden 1 collaboration

Gaetan Lesca 1 collaboration

Sophie Julia 1 collaboration

Claude Cances 1 collaboration

Hubert Journel 1 collaboration

Cecilia Altuzarra 1 collaboration

Alexandra Afenjar 1 collaboration

Magalie Barth 1 collaboration

Géraldine Daquin 1 collaboration

Sylvie Lamoureux-Toth 1 collaboration