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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Published in:
Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01254-y
By:
- Biancalana, Valérie;
- Rendu, John;
- Chaussenot, Annabelle;
- Mecili, Helen;
- Bieth, Eric;
- Fradin, Mélanie;
- Mercier, Sandra;
- Michaud, Maud;
- Nougues, Marie-Christine;
- Pasquier, Laurent;
- Sacconi, Sabrina;
- Romero, Norma B.;
- Marcorelles, Pascale;
- Authier, François Jérôme;
- Gelot Bernabe, Antoinette;
- Uro-Coste, Emmanuelle;
- Cances, Claude;
- Isidor, Bertrand;
- Magot, Armelle;
- Minot-Myhie, Marie-Christine
Publication type:
Article
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Published in:
2017
By:
- Cavallin, Mara;
- Rujano, Maria A.;
- Bednarek, Nathalie;
- Medina-Cano, Daniel;
- Bernabe Gelot, Antoinette;
- Drunat, Severine;
- Maillard, Camille;
- Garfa-Traore, Meriem;
- Bole, Christine;
- Nitschké, Patrick;
- Beneteau, Claire;
- Besnard, Thomas;
- Cogné, Benjamin;
- Eveillard, Marion;
- Kuster, Alice;
- Poirier, Karine;
- Verloes, Alain;
- Martinovic, Jelena;
- Bidat, Laurent;
- Rio, Marlene
Publication type:
journal article
Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.
Published in:
2019
By:
- Fazzi, Elisa;
- Korff, Christian;
- Bernabe Gelot, Antoinette;
- Leroy, Patricia;
- Rivier, Francois;
- San Antonio-Arce, Victoria;
- Veggiotti, Pierangelo
Publication type:
Letter
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Published in:
Birth Defects Research, 2018, v. 110, n. 4, p. 382, doi. 10.1002/bdr2.1154
By:
- Alby, Caroline;
- Boutaud, Lucile;
- Bonnière, Maryse;
- Collardeau-Frachon, Sophie;
- Guibaud, Laurent;
- Lopez, Estelle;
- Bruel, Ange-Line;
- Aral, Bernard;
- Sonigo, Pascale;
- Roth, Philippe;
- Vibert-Guigue, Claude;
- Castaigne, Vanina;
- Carbonne, Bruno;
- Joye, Nicole;
- Faivre, Laurence;
- Cordier, Marie-Pierre;
- Gelot, Antoinette Bernabe;
- Clementi, Maurizio;
- Mammi, Isabella;
- Vekemans, Michel
Publication type:
Article
Progression of Fetal Brain Lesions in Tuberous Sclerosis Complex.
Published in:
Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.00899
By:
- Gelot, Antoinette Bernabe;
- Represa, Alfonso
Publication type:
Article
MFN2, a new gene responsible for mitochondrial DNA depletion.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e223, doi. 10.1093/brain/aws111
By:
- Renaldo, Florence;
- Amati-Bonneau, Patrizia;
- Slama, Abdelhamid;
- Romana, Claudia;
- Forin, Veronique;
- Doummar, Diane;
- Barnerias, Christine;
- Bursztyn, Joseph;
- Mayer, Michèle;
- Khouri, Nejib;
- Billette de Villemeur, Thierry;
- Burglen, Lydie;
- Reynier, Pascal;
- Bernabe Gelot, Antoinette;
- Rodriguez, Diana
Publication type:
Article
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 5, p. 1004, doi. 10.1093/hmg/ddr531
By:
- Carabalona, Aurelie;
- Beguin, Shirley;
- Pallesi-Pocachard, Emilie;
- Buhler, Emmanuelle;
- Pellegrino, Christophe;
- Arnaud, Karen;
- Hubert, Philippe;
- Oualha, Mehdi;
- Siffroi, Jean Pierre;
- Khantane, Sabrina;
- Coupry, Isabelle;
- Goizet, Cyril;
- Gelot, Antoinette Bernabe;
- Represa, Alfonso;
- Cardoso, Carlos
Publication type:
Article

Found: 7

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Progression of Fetal Brain Lesions in Tuberous Sclerosis Complex.

MFN2, a new gene responsible for mitochondrial DNA depletion.

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.