Bernard Échenne

irccs istituto ortopedico rizzoli

H指数:41

被引数:6,376

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Cognitive impairment in children with CACNA1A mutations

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

IF4.3

2019-05-2134

OAAI

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

进一步描述59名法国男性患者的MECP2重复综合征表型，特别关注形态学和神经学特征

JOURNAL OF MEDICAL GENETICS

IF3.7

2018-04-0452

OAAI

Miguet, Marguerite; Faivre, Laurence; Amiel, Jeanne; Nizon, Mathilde; Touraine, Renaud; Prieur, Fabienne; Pasquier, Laurent; Lefebvre, Mathilde; Thevenon, Julien; Dubourg, Christele; Julia, Sophie; Sarret, Catherine; Remerand, Ganaelle; Francannet, Christine; Laffargue, Fanny; Boespflug-Tanguy, Odile; David, Albert; Isidor, Bertrand; Vigneron, Jacqueline; Leheup, Bruno; Lambert, Laetitia; Philippe, Christophe; Beri-Dexheimer, Mylene; Cuisset, Jean-Marie; Andrieux, Joris; Plessis, Ghislaine; Toutain, Annick; Guibaud, Laurent; Cormier-Daire, Valerie; Rio, Marlene; Bonnefont, Jean-Paul; Echenne, Bernard; Journel, Hubert; Burglen, Lydie; Chantot-Bastaraud, Sandrine; Bienvenu, Thierry; Baumann, Clarisse; Perrin, Laurence; Drunat, Severine; Jouk, Pierre-Simon; Dieterich, Klaus; Devillard, Francoise; Lacombe, Didier; Philip, Nicole; Sigaudy, Sabine; Moncla, Anne; Missirian, Chantal; Badens, Catherine; Perreton, Nathalie; Thauvin-Robinet, Christel; AChro-Puce, Reseau; Pedespan, Jean-Michel; Rooryck, Caroline; Goizet, Cyril; Vincent-Delorme, Catherine; Duban-Bedu, Benedicte; Bahi-Buisson, Nadia; Afenjar, Alexandra; Maincent, Kim; Heron, Delphine; Alessandri, Jean-Luc; Martin-Coignard, Dominique; Lesca, Gaetan; Rossi, Massimiliano; Raynaud, Martine; Callier, Patrick; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Coutton, Charles; Satre, Veronique; Le Caignec, Cedric; Malan, Valerie; Romana, Serge; Keren, Boris; Tabet, Anne-Claude; Kremer, Valerie; Scheidecker, Sophie; Vigouroux, Adeline; Lackmy-Port-Lis, Marilyn; Sanlaville, Damien; Till, Marianne; Carneiro, Maryline; Gilbert-Dussardier, Brigitte; Willems, Marjolaine; Van Esch, Hilde; Des Portes, Vincent; El Chehadeh, Salima

AP4 deficiency A novel form of neurodegeneration with brain iron accumulation?

NEUROLOGY-GENETICS

IF3.7

2018-02-0128

OAAI

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

JOURNAL OF MEDICAL GENETICS

IF3.7

2017-09-2783

PREAI

Schiff, Manuel; Roda, Celine; Monin, Marie-Lorraine; Arion, Alina; Barth, Magali; Bednarek, Nathalie; Bidet, Maud; Bloch, Catherine; Boddaert, Nathalie; Borgel, Delphine; Brassier, Anais; Brice, Alexis; Bruneel, Arnaud; Buissonniere, Roger; Chabrol, Brigitte; Chevalier, Marie-Chantal; Cormier-Daire, Valerie; De Barace, Claire; De Maistre, Emmanuel; De Saint-Martin, Anne; Dorison, Nathalie; Drouin-Garraud, Valerie; Dupre, Thierry; Echenne, Bernard; Edery, Patrick; Feillet, Francois; Fontan, Isabelle; Francannet, Christine; Labarthe, Francois; Gitiaux, Cyril; Heron, Delphine; Hully, Marie; Lamoureux, Sylvie; Martin-Coignard, Dominique; Mignot, Cyril; Morin, Gilles; Pascreau, Tiffany; Pincemaille, Olivier; Polak, Michel; Roubertie, Agathe; Thauvin-Robinet, Christel; Toutain, Annick; Viot, Geraldine; Vuillaumier-Barrot, Sandrine; Seta, Nathalie; De Lonlay, Pascale

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

NEUROLOGY

IF8.5

2016-01-1252

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2015-02-2742

OAAI

Bauer, Michael; Koelsch, Uwe; Krueger, Renate; Unterwalder, Nadine; Hameister, Karin; Kaiser, Fabian Marc; Vignoli, Aglaia; Rossi, Rainer; Pilar Botella, Maria; Budisteanu, Magdalena; Rosello, Monica; Orellana, Carmen; Isabel Tejada, Maria; Papuc, Sorina Mihaela; Patat, Oliver; Julia, Sophie; Touraine, Renaud; Gomes, Thusari; Wenner, Kirsten; Xu, Xiu; Afenjar, Alexandra; Toutain, Annick; Philip, Nicole; Jezela-Stanek, Aleksandra; Gortner, Ludwig; Martinez, Francisco; Echenne, Bernard; Wahn, Volker; Meisel, Christian; Wieczorek, Dagmar; El-Chehadeh, Salima; Van Esch, Hilde; von Bernuth, Horst

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

MOLECULAR PSYCHIATRY

IF10.1

2015-02-03245

OAAI

Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A-K; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M-P; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Van Boemmel, A.; Goeke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Mueller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L. B.; Wieacker, P.; Criado, G. Rodriguez; Bondeson, M-L; Anneren, G.; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J-P; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H-H; Kalscheuer, V. M.

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

IF7.5

2015-01-1672

PREAI

Partial acute transverse myelitis is a predictor of multiple sclerosis in children

MULTIPLE SCLEROSIS JOURNAL

IF5

2014-03-1114

OAAI

Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort Of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

一大群患有良性新生儿癫痫的家庭中新的KCNQ2和KCNQ3突变: Syntaxin-1A改变通道调节的第一个证据

HUMAN MUTATION

IF3.7

2014-01-1386

OAAI

Acute-onset chorea, dystonia, and cardiac fibroelastoma in a child: A paraneoplastic association?

MOVEMENT DISORDERS

IF7.6

2012-12-124

PREAI

Lack of progressive arteriopathy and stroke recurrence among children with cryptogenic stroke

NEUROLOGY

IF8.5

2012-12-1119

PREAI

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

ANNALS OF NEUROLOGY

IF7.7

2012-04-20117

PREAI

Friedman, Jennifer; Roze, Emmanuel; Abdenur, Jose E.; Chang, Richard; Gasperini, Serena; Saletti, Veronica; Wali, Gurusidheshwar M.; Eiroa, Hernan; Neville, Brian; Felice, Alex; Parascandalo, Ray; Zafeiriou, Dimitrios I.; Arrabal-Fernandez, Luisa; Dill, Patricia; Eichler, Florian S.; Echenne, Bernard; Gutierrez-Solana, Luis G.; Hoffmann, Georg F.; Hyland, Keith; Kusmierska, Katarzyna; Tijssen, Marina A. J.; Lutz, Thomas; Mazzuca, Michel; Penzien, Johann; Bwee Tien Poll-The; Sykut-Cegielska, Jolanta; Szymanska, Krystyna; Thoeny, Beat; Blau, Nenad

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

CELL REPORTS

IF6.9

2012-01-01241

OAAI

Lee, Hsien-Yang; Huang, Yong; Bruneau, Nadine; Roll, Patrice; Roberson, Elisha D. O.; Hermann, Mark; Quinn, Emily; Maas, James; Edwards, Robert; Ashizawa, Tetsuo; Baykan, Betul; Bhatia, Kailash; Bressman, Susan; Bruno, Michiko K.; Brunt, Ewout R.; Caraballo, Roberto; Echenne, Bernard; Fejerman, Natalio; Frucht, Steve; Gurnett, Christina A.; Hirsch, Edouard; Houlden, Henry; Jankovic, Joseph; Lee, Wei-Ling; Lynch, David R.; Mohammed, Shehla; Mueller, Ulrich; Nespeca, Mark P.; Renner, David; Rochette, Jacques; Rudolf, Gabrielle; Saiki, Shinji; Soong, Bing-Wen; Swoboda, Kathryn J.; Tucker, Sam; Wood, Nicholas; Hanna, Michael; Bowcock, Anne M.; Szepetowski, Pierre; Fu, Ying-Hui; Ptacek, Louis J.

Current French Pompe Prevalence Study (French PoPS)

CLINICAL THERAPEUTICS

IF3.6

2011-06-011

PREAI

Early Onset Collagen VI Myopathies: Genetic and Clinical Correlations

ANNALS OF NEUROLOGY

IF7.7

2010-10-25101

OAAI

Brinas, Laura; Richard, Pascale; Quijano-Roy, Susana; Gartioux, Corine; Ledeuil, Celine; Lacene, Emmanuelle; Makri, Samira; Ferreiro, Ana; Maugenre, Svetlana; Topaloglu, Haluk; Haliloglu, Goknur; Penisson-Besnier, Isabelle; Jeannet, Pierre-Yves; Merlini, Luciano; Navarro, Carmen; Toutain, Annick; Chaigne, Denys; Desguerre, Isabelle; de Die-Smulders, Christine; Dunand, Murielle; Echenne, Bernard; Eymard, Bruno; Kuntzer, Thierry; Maincent, Kim; Mayer, Michele; Plessis, Ghislaine; Rivier, Francois; Roelens, Filip; Stojkovic, Tanya; Lia Taratuto, Ana; Lubieniecki, Fabiana; Monges, Soledad; Tranchant, Christine; Viollet, Louis; Romero, Norma B.; Estournet, Brigitte; Guicheney, Pascale; Allamand, Valerie

Benign paroxysmal vertigo of childhood: Long-term outcome

CEPHALALGIA

IF4.6

2010-09-1740

PREAI

Type I Hyperprolinemia: Genotype/Phenotype Correlations

HUMAN MUTATION

IF3.7

2010-06-0327

OAAI

Guilmatre, Audrey; Legallic, Solenn; Steel, Gary; Willis, Alecia; Di Rosa, Gabriella; Goldenberg, Alice; Drouin-Garraud, Valerie; Guet, Agnes; Mignot, Cyril; Des Portes, Vincent; Valayannopoulos, Vassili; Van Maldergem, Lionel; Hoffman, Jodi D.; Izzi, Claudia; Espil-Taris, Caroline; Orcesi, Simona; Bonafe, Luisa; Le Galloudec, Eric; Maurey, Helene; Ioos, Christine; Afenjar, Alexandra; Blanchet, Patricia; Echenne, Bernard; Roubertie, Agathe; Frebourg, Thierry; Valle, David; Campion, Dominique

Neurologic Aspects of MECP2 Gene Duplication in Male Patients

PEDIATRIC NEUROLOGY

IF2.1

2009-09-0138

PREAI

Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression

HUMAN MOLECULAR GENETICS

IF3.2

2009-07-14127

OAAI

Bernard Échenne

个人简介

教育背景

工作经历

荣誉奖项

研究方向