Search Results - "Echenne, B."

Mutations within the Programmed Cell Death 10 Gene Cause Cerebral Cavernous Malformations by Bergametti, F., Denier, C., Labauge, P., Arnoult, M., Boetto, S., Clanet, M., Coubes, P., Echenne, B., Ibrahim, R., Irthum, B., Jacquet, G., Lonjon, M., Moreau, J.J., Neau, J.P., Parker, F., Tremoulet, M., Tournier-Lasserve, E.

“…Cerebral cavernous malformations (CCMs) are hamartomatous vascular malformations characterized by abnormally enlarged capillary cavities without intervening…”
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Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results by COUBES, Philippe, CIF, Laura, FREREBEAU, Philippe, HASSAN EL FERTIT, HEMM, Simone, VAYSSIERE, Nathalie, SERRAT, Stephanie, PICOT, Marie Christine, TUFFERY, Sylvie, CLAUSTRES, Mireille, ECHENNE, Bernard

“…Primary generalized dystonia (PGD) is a medically refractory disease of the brain causing twisting or spasmodic movements and abnormal postures. In more than…”
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PP11.3 – 2494: Phenotype selection in DCD patients prior to quantitative PET imaging by Farmer, M, Echenne, B

“…Objective The aim of the study was to propose a means to select a cohort of patients affected by Coordination Developmental Disorder (DCD) based on their…”
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Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression by Daoud, Fatma, Angeard, Nathalie, Demerre, Bénédicte, Martie, Itxaso, Benyaou, Rabah, Leturcq, France, Cossée, Mireille, Deburgrave, Nathalie, Saillour, Yoann, Tuffery, Sylvie, Urtizberea, Andoni, Toutain, Annick, Echenne, Bernard, Frischman, Martine, Mayer, Michèle, Desguerre, Isabelle, Estournet, Brigitte, Réveillère, Christian, Penisson-Besnier, Cuisset, Jean Marie, Kaplan, Jean Claude, Héron, Delphine, Rivier, François, Chelly, Jamel

“…The presence of variable degrees of cognitive impairment, extending from severe mental retardation to specific deficits, in patients with dystrophinopathies is…”
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Update on transcobalamin deficiency: clinical presentation, treatment and outcome by Trakadis, Y. J., Alfares, A., Bodamer, O. A., Buyukavci, M., Christodoulou, J., Connor, P., Glamuzina, E., Gonzalez-Fernandez, F., Bibi, H., Echenne, B., Manoli, I., Mitchell, J., Nordwall, M., Prasad, C., Scaglia, F., Schiff, M., Schrewe, B., Touati, G., Tchan, M. C., Varet, B., Venditti, C. P., Zafeiriou, D., Rupar, C. A., Rosenblatt, D. S., Watkins, D., Braverman, N.

“…Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with…”
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MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies by Lambert, L, Bienvenu, T, Allou, L, Valduga, M, Echenne, B, Diebold, B, Mignot, C, Héron, D, Roth, V, Saunier, A, Moustaïne, A, Jonveaux, P, Philippe, C

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Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family by Roubertie, A., Echenne, B., Leydet, J., Soete, S., Krams, B., Rivier, F., Riant, F., Tournier-Lasserve, E.

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Partial acute transverse myelitis is a predictor of multiple sclerosis in children by Meyer, P, Leboucq, N, Molinari, N, Roubertie, A, Carneiro, M, Walther-Louvier, U, Cuntz-Shadfar, D, Leydet, J, Cheminal, R, Cambonie, G, Echenne, B, Rondouin, G, Deiva, K, Mikaeloff, Y, Rivier, F

“…Background: Acute transverse myelitis (ATM) in children is a rare and often severe disease for which there are few known prognostic factors, particularly the…”
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Update on the treatment of childhood movement disorders: Focus on dystonia by Roubertie, A, Echenne, B

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Unexpected neurological sequelae following propofol anesthesia in infants: Three case reports by Meyer, P, Langlois, C, Soëte, S, Leydet, J, Echenne, B, Rivier, F, Bonafé, A, Roubertie, A

“…Abstract Propofol is a widely used hypnotic agent for induction and maintenance of pediatric anesthesia with a well known safety profile. Experimental in vitro…”
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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH) by des Portes, Vincent, Francis, Fiona, Pinard, Jean-Marc, Desguerre, Isabelle, Moutard, Marie-Laure, Snoeck, Irina, Meiners, Linda C., Capron, François, Cusmai, Raffaella, Ricci, Stefano, Motte, Jacques, Echenne, Bernard, Ponsot, Gérard, Dulac, Olivier, Chelly, Jamel, Beldjord, Cherif

“…Subcortical laminar heterotopia (SCLH), or ‘double cortex’, is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical…”
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Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes by Tezenas du Montcel, S, Clot, F, Vidailhet, M, Roze, E, Damier, P, Jedynak, C P, Camuzat, A, Lagueny, A, Vercueil, L, Doummar, D, Guyant-Maréchal, L, Houeto, J-L, Ponsot, G, Thobois, S, Cournelle, M-A, Durr, A, Durif, F, Echenne, B, Hannequin, D, Tranchant, C, Brice, A

“…Background: Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on…”
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Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q by GUIPPONI, M, RIVIER, F, VIGEVANO, F, BECK, C, CRESPEL, A, ECHENNE, B, LUCCHINI, P, SEBASTIANELLI, R, BALDY-MOULINIER, M, MALAFOSSE, A

“…Benign familial infantile convulsions (BFIC) are an autosomal-dominant epileptic syndrome characterized by an age of onset within the first year of life…”
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Current French Pompe Prevalence Study (French PoPS) by Sacconi, S, Piraud, M, Echaniz-Laguna, A, Tranchant, C, Boutte, C, Nadaj, A, Penisson-Besnier, I, Bouhour, F, Gervais, H, Petiot, P, Manel, V, Gallard, J, Salort-Campana, E, Solé, G, Pages, M, Echenne, B, Fourquet, I, Lacour, A, Feasson, L, Magot, A, Chabrol, B, Chapon, F, Clavelou, P, Martinez, E, Baëz, E, Laforêt, P, Pouget, J, Desnuelle, C

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Actualité de la prise en charge des mouvements anormaux chez l’enfant : la dystonie by Roubertie, A, Echenne, B

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Treatment of childhood dystonia by Roubertie, A, Roze, E, Bahi-Buisson, N, Payet, C, Echenne, B, Doummar, D

“…Dystonia is not uncommon in childhood, but is clinically very heterogeneous. Therefore, introduction and follow-up of the treatment of dystonia in children are…”
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Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases by Humbertclaude, V, Hamroun, D, Picot, M-C, Bezzou, K, Bérard, C, Boespflug-Tanguy, O, Bommelaer, C, Campana-Salort, E, Cances, C, Chabrol, B, Commare, M-C, Cuisset, J-M, de Lattre, C, Desnuelle, C, Echenne, B, Halbert, C, Jonquet, O, Labarre-Vila, A, N'guyen-Morel, M-A, Pages, M, Pepin, J-L, Petitjean, T, Pouget, J, Ollagnon-Roman, E, Richelme, C, Rivier, F, Sacconi, S, Tiffreau, V, Vuillerot, C, Béroud, C, Tuffery-Giraud, S, Claustres, M

“…The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of…”
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Particularités pédiatriques des mouvements anormaux by Roubertie, A, Carneiro, M, Echenne, B

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Acute motor deficit in childhood: diagnosis management by Roubertie, A, Soëte, S, Meyer, P, Echenne, B, Rivier, F, Langlois, C

“…Acute motor deficit is not uncommon in childhood, with various neurological etiologies. Pertinent semiological analysis allows correct diagnosis management,…”
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Genetic syndromes that mimic congenital infections: report of 2 cases by Thibault, M, Leydet, J, Tournier-Lasserve, E, Crow, Y-J, Rivier, F, Echenne, B, Langlois, C, Daudet, H, Sarda, P, Roubertie, A

“…Genetic syndromes that mimic congenital infections must be recognized because of the associated risk of recurrence. We describe a male infant who was born with…”
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