Search Results - "Meneret, A."

PRRT2 mutations and paroxysmal disorders by Méneret, A., Gaudebout, C., Riant, F., Vidailhet, M., Depienne, C., Roze, E.

“…In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. We…”
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GLUT1 deficiency syndrome: An update by Gras, D., Roze, E., Caillet, S., Méneret, A., Doummar, D., Billette de Villemeur, T., Vidailhet, M., Mochel, F.

“…Glucose transporter type 1 deficiency syndrome is caused by heterozygous, mostly de novo, mutations in the SLC2A1 gene encoding the glucose transporter GLUT1…”
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The “Neurological Hat Game”: A fun way to learn the neurological semiology by Garcin, B., Mariani, L.L., Méneret, A., Mongin, M., Delorme, C., Cormier, F., Renaud, M.-C., Roze, E., Degos, B.

“…In-class courses are deserted by medical students who tend to find it more beneficial to study in books and through online material. New interactive teaching…”
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Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein by Mariani, L. L., Rivaud-Péchoux, S., Charles, P., Ewenczyk, C., Meneret, A., Monga, B. B., Fleury, M.-C., Hainque, E., Maisonobe, T., Degos, B., Echaniz-Laguna, A., Renaud, M., Wirth, T., Grabli, D., Brice, A., Vidailhet, M., Stoppa-Lyonnet, D., Dubois-d’Enghien, C., Le Ber, I., Koenig, M., Roze, E., Tranchant, C., Durr, A., Gaymard, B., Anheim, M.

“…Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by…”
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‘The Move’, an innovative simulation-based medical education program using roleplay to teach neurological semiology: Students’ and teachers’ perceptions by Roze, E., Flamand-Roze, C., Méneret, A., Ruiz, M., Le Liepvre, H., Duguet, A., Renaud, M.-C., Alamowitch, S., Steichen, O.

“…Neurological disorders are frequently being managed by general practitioners. It is therefore critical that future physicians become comfortable with…”
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Paroxysmal movement disorders: An update by Méneret, A., Roze, E.

“…Paroxysmal movement disorders comprise both paroxysmal dyskinesia, characterized by attacks of dystonic and/or choreic movements, and episodic ataxia, defined…”
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Oral erosive lichen planus associated with Good syndrome by Blanchard, M, Méneret, A, Moguelet, P, Brian, E, Baron, M, Khosrotehrani, K, Bazelly, B, Bachmeyer, C

“…Good syndrome is characterized by thymoma, hypogammaglobulinemia, low number of peripheral B cells, and variably, peripheral CD4 T cell lymphopenia and…”
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Systematic review of movement disorders and oculomotor abnormalities in Whipple's disease by Bally, Julien F., Méneret, Aurélie, Roze, Emmanuel, Anderson, Melanie, Grabli, David, Lang, Anthony E.

“…Whipple's disease, affecting the CNS, can cause a wide variety of symptoms. Movement disorders are very prevalent, and some are pathognomonic of the disease…”
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PRRT2 mutations cause hemiplegic migraine by RIANT, Florence, ROZE, Emmanuel, BARBANCE, Cecile, MENERET, Aurélie, GUYANT-MARECHAL, Lucie, LUCAS, Christian, SABOURAUD, Pascal, TREBUCHON, Agnes, DEPIENNE, Christel, TOURNIER-LASSERVE, Elisabeth

“…Hemiplegic migraine (HM) is a rare subtype of migraine with aura that occurs as a familial or sporadic condition. The 3 culprit genes identified so far do not…”
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Lichen plan buccal érosif associé à un syndrome de Good by Blanchard, M., Méneret, A., Moguelet, P., Brian, E., Baron, M., Khosrotehrani, K., Bazelly, B., Bachmeyer, C.

“…Le syndrome de Good est caractérisé par l’association d’un thymome à une hypogammaglobulinémie, une lymphopénie B circulante, et de manière variable, une…”
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A recent dyspnea on exertion by Méneret, A, Bachmeyer, C, Ridel, C, Khalil, A, Hertig, A, Parrot, A

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A recurrent diarrhea by Méneret, A, Tassart, M, Khalil, A, Roques, S, Barbut, F, Bachmeyer, C

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The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia by Méneret, Aurélie, Ahmar-Beaugendre, Yara, Rieunier, Guillaume, Mahlaoui, Nizar, Gaymard, Bertrand, Apartis, Emmanuelle, Tranchant, Christine, Rivaud-Péchoux, Sophie, Degos, Bertrand, Benyahia, Baya, Suarez, Felipe, Maisonobe, Thierry, Koenig, Michel, Durr, Alexandra, Stern, Marc-Henri, Dubois d’Enghien, Catherine, Fischer, Alain, Vidailhet, Marie, Stoppa-Lyonnet, Dominique, Grabli, David, Anheim, Mathieu

“…OBJECTIVE:To assess the clinical spectrum of ataxia-telangiectasia (A-T) in adults, with a focus on movement disorders. METHODS:A total of 14 consecutive…”
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48P Digging into histological-genetic correlations in MYH2-myopathy: a case series and review of the literature by Labella, B., Brochier, G., Beuvin, M., Méneret, A., Leonard-Louis, S., Maisonobe, T., Stojkovic, T., Métay, C., Evangelista, T.

“…MYH2 gene encodes the myosin heavy chain (MyHC)-IIA isoform expressed in muscle fast type 2A fibers. First described in 1998, the clinical and histological…”
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Spectre des mouvements anormaux chez les adultes atteints d’ataxie télangiectasie by Grabli, D., Meneret, A., Beaugendre, Y., Apartis, E., Malahoui, N., Stopppa-Lyonnet, D., Anheim, M.

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Une dyspnée d’effort récente by Méneret, A., Bachmeyer, C., Ridel, C., Khalil, A., Hertig, A., Parrot, A.

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Une diarrhée récidivante by Méneret, A., Tassart, M., Khalil, A., Roques, S., Barbut, F., Bachmeyer, C.

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Dystonie paroxystique familiale induite par l’exercice avec hémiplégie alternante de la petite enfance due à une mutation (P.ASP923ASN) ATP1A3 by Roubergue, A., Roze, E., Vuillaumier-Barrot, S., Fontenille, M.-J., Méneret, A., Vidailhet, M., Fontaine, B., Doummar, D., Philibert, B., Riant, F., Nicole, S.

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