Search Results - "Vermersch, Anne Isabelle"

The epileptology of GNB5 encephalopathy by Poke, Gemma, King, Chontelle, Muir, Alison, Valles‐Ibáñez, Guillem, Germano, Michele, Moura de Souza, Carolina F., Fung, Jasmine, Chung, Brian, Fung, Cheuk Wing, Mignot, Cyril, Ilea, Adina, Keren, Boris, Vermersch, Anne‐Isabelle, Davis, Suzanne, Stanley, Thorsten, Moharir, Mahendranath, Kannu, Peter, Shao, Zhuo, Malerba, Natascia, Merla, Giuseppe, Mefford, Heather C., Scheffer, Ingrid E., Sadleir, Lynette G.

“…Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22…”
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Cortical control of saccades by Pierrot-Deseilligny, C, Rivaud, S, Gaymard, B, Müri, R, Vermersch, A I

“…A scheme for the cortical control of saccadic eye movements is proposed based partly on defects revealed by specific test paradigms in humans with discrete…”
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Early neurological phenotype in 4 children with biallelic PRODH mutations by Afenjar, Alexandra, Moutard, Marie-Laure, Doummar, Diane, Guët, Agnés, Rabier, Daniel, Vermersch, Anne-Isabelle, Mignot, Cyril, Burglen, Lydie, Heron, Delphine, Thioulouse, Elizabeth, de Villemeur, Thierry Billette, Campion, Dominique, Rodriguez, Diana

“…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…”
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CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients by Le Roux, Marie, Barth, Magalie, Gueden, Sophie, Desbordes de Cepoy, Patrick, Aeby, Alec, Vilain, Catheline, Hirsch, Edouard, de Saint Martin, Anne, Portes, Vincent des, Lesca, Gaëtan, Riquet, Audrey, Chaton, Laurence, Villeneuve, Nathalie, Villard, Laurent, Cances, Claude, Valton, Luc, Renaldo, Florence, Vermersch, Anne-Isabelle, Altuzarra, Cecilia, Nguyen-Morel, Marie-Ange, Van Gils, Julien, Angelini, Chloé, Biraben, Arnaud, Arnaud, Lionel, Riant, Florence, Van Bogaert, Patrick

“…CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial…”
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The Indian Basket Trick: a case of delayed paraplegia with complete recovery, caused by misplaced thoracic pedicle screw by Leroy, Antonin, Kabbaj, Reda, Dubory, Arnaud, Bachy, Manon, Vermersch, Anne-Isabelle, Vialle, Raphaël

“…Introduction Pedicle screw fixation allows purchase of all three spinal columns without encroaching into the spinal canal improving fracture fixation, as well…”
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Sequences of memory-guided saccades in Parkinson's disease by Vermersch, A I, Rivaud, S, Vidailhet, M, Bonnet, A M, Gaymard, B, Agid, Y, Pierrot-Deseilligny, C

“…Sequences of ocular saccades were studied in 8 patients with Parkinson's disease, with (i.e., "on") and without (i.e., "off") levodopa treatment. The amplitude…”
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Improvement of memory guided saccades in parkinsonian patients by high frequency subthalamic nucleus stimulation by Rivaud-Péchoux, Sophie, Vermersch, Anne-Isabelle, Gaymard, Bertrand, Ploner, Christoph J, Bejjani, Boulos P, Damier, Philippe, Demeret, Sophie, Agid, Yves, Pierrot-Deseilligny, Charles

“…Recent studies in the monkey suggest that the subthalamic nucleus (STN) is involved in control of eye movement, yet its functional significance in humans is…”
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Hemispheric asymmetry in cortical control of memory-guided saccades. A transcranial magnetic stimulation study by Müri, René M., Gaymard, Bertrand, Rivaud, Sophie, Vermersch, Anne-Isabelle, Hess, Christian W., Pierrot-Deseilligny, Charles

“…To study the temporal organisation of memory-guided saccade control we used single-pulse transcranial magnetic stimulation (TMS) over the left posterior…”
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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation by Mignot, Cyril, Lambert, Laetitia, Pasquier, Laurent, Bienvenu, Thierry, Delahaye-Duriez, Andrée, Keren, Boris, Lefranc, Jérémie, Saunier, Aline, Allou, Lila, Roth, Virginie, Valduga, Mylène, Moustaïne, Aissa, Auvin, Stéphane, Barrey, Catherine, Chantot-Bastaraud, Sandra, Lebrun, Nicolas, Moutard, Marie-Laure, Nougues, Marie-Christine, Vermersch, Anne-Isabelle, Héron, Bénédicte, Pipiras, Eva, Héron, Delphine, Olivier-Faivre, Laurence, Guéant, Jean-Louis, Jonveaux, Philippe, Philippe, Christophe

“…Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings…”
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Abnormal Interhemispheric Synchrony in Neonatal Hypoxic-Ischemic Encephalopathy: A Retrospective Pilot Study by Leroy-Terquem, Elise, Vermersch, Anne Isabelle, Dean, Pauline, Assaf, Ziad, Boddaert, Nathalie, Lapillonne, Alexandre, Magny, Jean-François

“…Abnormal interhemispheric synchrony has been described in many clinical compromises in brain function, but its prognostic value in neonatal hypoxic-ischemic…”
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Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases by Le Roux, Marie, van Gils, Julien, van Gils, Julien, Gueden, Sophie, de Cepoy, Patrick Desbordes, Aeby, Alec, Vilain, Catheline, Hirsch, Edouard, Martin, Anne de Saint, Des Portes, Vincent, Lesca, Gaetan, Riquet, Audrey, Chaton, Laurence, Villeneuve, Nathalie, Villard, Laurent, Cances, Claude, Valton, Luc, Renaldo, Florence, Vermersch, Anne-Isabelle, Altuzarra, Cecilia, Nguyen-Morel, Marie-Ange, Angelini, Chloé, Biraben, Arnaud, Arnaud, Lionel, Riant, Florence, van Bogaert, Patrick

“…The molecular diagnosis of early-onset epileptic encephalopathy (EOEE), an expanding field in child neurology, is becoming increasingly possible thanks to the…”
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A simple EEG-based decision tool for neonatal therapeutic hypothermia in hypoxic-ischemic encephalopathy by Fiammante, Marc, Vermersch, Anne-Isabelle, Vidailhet, Marie, Chavez, Mario

“…Indication of therapeutic hypothermia needs an accurate identification of brain injury in the early neonatal period. Here, we aim to provide a simple…”
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Usher syndrome type 1: Early detection of electroretinographic changes by Flores-Guevara, Roberto, Renault, Francis, Loundon, Natalie, Marlin, Sandrine, Pelosse, Béatrice, Momtchilova, Martha, Auzoux-Chevé, Monique, Vermersch, Anne Isabelle, Richard, Pascal

“…Abstract Background Usher syndrome type 1 needs to be diagnosed at early age in order to timely manage speech therapy, cochlear implantation, and genetic…”
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Effects of single-pulse transcranial magnetic stimulation over the prefrontal and posterior parietal cortices during memory-guided saccades in humans by Müri, R M, Vermersch, A I, Rivaud, S, Gaymard, B, Pierrot-Deseilligny, C

“…1. We used single-pulse transcranial magnetic stimulation (TMS) to explore the temporal organization of the cortical control of memory-guided saccades in eight…”
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