Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Anne-Isabelle Vermersch"'
Autor:
Magalie Barth, Marie-Ange Nguyen-Morel, Marie Le Roux, Florence Renaldo, Nathalie Villeneuve, Florence Riant, Alec Aeby, Lionel Arnaud, Arnaud Biraben, Claude Cances, Catheline Vilain, Anne-Isabelle Vermersch, Patrick Van Bogaert, Edouard Hirsch, Chloé Angelini, Laurence Chaton, Gaetan Lesca, Julien Van Gils, Laurent Villard, Sophie Gueden, Patrick Desbordes de Cepoy, Vincent des Portes, Luc Valton, Cecilia Altuzarra, Audrey Riquet, Anne de Saint Martin
Publikováno v:
European Journal of Paediatric Neurology
European Journal of Paediatric Neurology, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
European Journal of Paediatric Neurology, Elsevier, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
European Journal of Paediatric Neurology, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
European Journal of Paediatric Neurology, Elsevier, 2021, 33, pp.75-85. ⟨10.1016/j.ejpn.2021.05.010⟩
International audience; CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4496805228d3d29deb659a147f2ff8
https://pubmed.ncbi.nlm.nih.gov/34102571
https://pubmed.ncbi.nlm.nih.gov/34102571
Autor:
Ziad Assaf, Jean-François Magny, Nathalie Boddaert, Anne Isabelle Vermersch, Elise Leroy-Terquem, Alexandre Lapillonne, Pauline Dean
Publikováno v:
Neonatology. 112:359-364
Background: Abnormal interhemispheric synchrony has been described in many clinical compromises in brain function, but its prognostic value in neonatal hypoxic-ischemic encephalopathy (HIE) is unknown. Objectives: The study aimed at describing the fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9313083348e936d37f87b84512f0325
https://doi.org/10.1159/000478964
https://doi.org/10.1159/000478964
Autor:
Giuseppe Merla, Alison M. Muir, Boris Keren, Natascia Malerba, Chontelle King, Ingrid E. Scheffer, Peter Kannu, Brian H.Y. Chung, Gemma Poke, Mahendranath Moharir, Michele Germano, Carolina Fischinger Moura de Souza, Jasmine L.F. Fung, Guillem de Valles-Ibáñez, Heather C Mefford, Thorsten Stanley, Lynette G. Sadleir, Zhuo Shao, Anne Isabelle Vermersch, Cyril Mignot, Adina Ilea, Cheuk Wing Fung, Suzanne Davis
Publikováno v:
EpilepsiaREFERENCES. 60(11)
Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epilepto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0602bcff1b2b125dbea3ffb89bb085
https://pubmed.ncbi.nlm.nih.gov/31631344
https://pubmed.ncbi.nlm.nih.gov/31631344
Autor:
Nicolas Lebrun, Thierry Bienvenu, Stéphane Auvin, Aissa Moustaïne, Lila Allou, Jean-Louis Guéant, Laurent Pasquier, Philippe Jonveaux, Andrée Delahaye-Duriez, Eva Pipiras, Anne-Isabelle Vermersch, Bénédicte Héron, Cyril Mignot, Laetitia Lambert, Aline Saunier, Christophe Philippe, Marie-Laure Moutard, Marie-Christine Nougues, Jeremie Lefranc, Virginie Roth, Catherine Barrey, Boris Keren, Mylène Valduga, Laurence Olivier-Faivre, Sandra Chantot-Bastaraud, Delphine Héron
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2014, 52 (1), pp.61-70. 〈10.1136/jmedgenet-2014-102748〉
Journal of Medical Genetics, BMJ Publishing Group, 2014, 52 (1), pp.61-70. ⟨10.1136/jmedgenet-2014-102748⟩
Journal of Medical Genetics, BMJ Publishing Group, 2014, 52 (1), pp.61-70. 〈10.1136/jmedgenet-2014-102748〉
Journal of Medical Genetics, BMJ Publishing Group, 2014, 52 (1), pp.61-70. ⟨10.1136/jmedgenet-2014-102748⟩
International audience; BACKGROUND:Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::751aa219d10bd9c65ebee451991e0baf
https://doi.org/10.1136/jmedgenet-2014-102748
https://doi.org/10.1136/jmedgenet-2014-102748
Autor:
Raphaël Vialle, Manon Bachy, Arnaud Dubory, R. Kabbaj, Anne-Isabelle Vermersch, Antonin Leroy
Publikováno v:
SpringerPlus
SpringerPlus, SpringerOpen, 2016, 5 (1), pp.944. ⟨10.1186/s40064-016-2334-y⟩
SpringerPlus, SpringerOpen, 2016, 5 (1), pp.944. ⟨10.1186/s40064-016-2334-y⟩
International audience; Pedicle screw fixation allows purchase of all three spinal columns without encroaching into the spinal canal improving fracture fixation, as well as deformity correction. Fortunately, neurologic injury associated with pedicle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc1cfcc4b2fadd2e58f3600a22681983
https://doi.org/10.1186/s40064-016-2334-y
https://doi.org/10.1186/s40064-016-2334-y
Autor:
B. Pelosse, Roberto Flores-Guevara, Monique Auzoux-Chevé, Francis Renault, Natalie Loundon, Martha Momtchilova, Pascal Richard, Anne Isabelle Vermersch, Sandrine Marlin
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 13(6)
Background Usher syndrome type 1 needs to be diagnosed at early age in order to timely manage speech therapy, cochlear implantation, and genetic counseling. Few data are available regarding electroretinographic testing before the age of six years. Ai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc78ee03cc2a381de39eb61908f2b648
https://pubmed.ncbi.nlm.nih.gov/19006676
https://pubmed.ncbi.nlm.nih.gov/19006676
Autor:
Daniel Rabier, Elizabeth Thioulouse, Dominique Campion, Delphine Héron, Cyril Mignot, Agnès Guët, Alexandra Afenjar, Diana Rodriguez, Marie-Laure Moutard, Anne-Isabelle Vermersch, Thierry Billette de Villemeur, Diane Doummar, Lydie Burglen
Publikováno v:
Braindevelopment. 29(9)
Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d132fd8771b3698e80eedf1d00cb7c5a
https://pubmed.ncbi.nlm.nih.gov/17412540
https://pubmed.ncbi.nlm.nih.gov/17412540