未登录Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitutionSCA37中DAB1 (ATTTC)n插入的突变机制: ATTTT重复延长和核苷酸取代
Loureiro, Joana R.; Oliveira, Claudia L.; Mota, Carolina; Castro, Ana F.; Costa, Cristina; Loureiro, Jose L.; Coutinho, Paula; Martins, Sandra; Sequeiros, Jorge; Silveira, Isabel .png)
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收藏Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegiasMorais, Sara; Raymond, Laure; Mairey, Mathilde; Coutinho, Paula; Brandao, Eva; Ribeiro, Paula; Loureiro, Jose Leal; Sequeiros, Jorge; Brice, Alexis; Alonso, Isabel; Stevanin, Giovanni 分享 收藏 A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar AtaxiaSeixas, Ana I.; Loureiro, Joana R.; Costa, Cristina; Ordonez-Ugalde, Andres; Marcelino, Hugo; Oliveira, Claudia L.; Loureiro, Jose L.; Dhingra, Ashutosh; Brandao, Eva; Cruz, Vitor T.; Timoteo, Angela; Quintans, Beatriz; Rouleau, Guy A.; Rizzu, Patrizia; Carracedo, Angel; Bessa, Jose; Heutink, Peter; Sequeiros, Jorge; Sobrido, Maria J.; Coutinho, Paula; Silveira, Isabel 分享 收藏 Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaCoutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphael; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M.; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; Saudubray, Jean-Marie; Rouleau, Guy; Brice, Alexis; Nicholson, Garth; Darios, Frederic; Loureiro, Jose L.; Zuchner, Stephan; Ottolenghi, Chris; Mochel, Fanny; Stevanin, Giovanni 分享 收藏 Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4Bras, Jose; Alonso, Isabel; Barbot, Clara; Costa, Maria Manuela; Darwent, Lee; Orme, Tatiana; Sequeiros, Jorge; Hardy, John; Coutinho, Paula; Guerreiro, Rita 分享 收藏 分享 收藏 Motor task performance under vibratory feedback early poststroke: single center, randomized, cross-over, controled clinical trialCruz, Vitor Tedim; Bento, Virgilio; Ruano, Luis; Ribeiro, David Dieteren; Fontao, Luis; Mateus, Catia; Barreto, Rui; Colunas, Marcio; Alves, Ana; Cruz, Barbara; Branco, Catarina; Rocha, Nelson P.; Coutinho, Paula 分享 收藏 Web-Based Cognitive Training: Patient Adherence and Intensity of Treatment in an Outpatient Memory ClinicCruz, Vitor Tedim; Pais, Joana; Alves, Ivania; Ruano, Luis; Mateus, Catia; Barreto, Rui; Bento, Virgilio; Colunas, Marcio; Rocha, Nelson; Coutinho, Paula 分享 收藏 Familial hemiplegic migraine due to L263V SCNIA mutation: Discordance for epilepsy between two kindreds from Douro ValleyBarros, Jose; Ferreira, Augusto; Brandao, Ana F.; Lemos, Carolina; Correia, Fernando; Damasio, Joana; Tuna, Assuncao; Sequeiros, Jorge; Coutinho, Paula; Alonso, Isabel; Pereira-Monteiro, Jose 分享 收藏 分享 收藏 Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic ParaplegiaEsteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, Jose L.; Boutry, Maxime; Gonzalez, Michael A.; Gauthier, Julie; El-Hachimi, Khalid H.; Depienne, Christel; Muriel, Marie-Paule; Lebrigio, Rafael F. Acosta; Gaussen, Marion; Noreau, Anne; Speziani, Fiorella; Dionne-Laporte, Alexandre; Deleuze, Jean-Francois; Dion, Patrick; Coutinho, Paula; Rouleau, Guy A.; Zuchner, Stephan; Brice, Alexis; Stevanin, Giovanni; Darios, Frederic 分享 收藏 分享 收藏 分享 收藏 Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic ParaplegiaBoukhris, Amir; Schule, Rebecca; Loureiro, Jose L.; Lourenco, Charles Marques; Mundwiller, Emeline; Gonzalez, Michael A.; Charles, Perrine; Gauthier, Julie; Rekik, Imen; Acosta Lebrigio, Rafael F.; Gaussen, Marion; Speziani, Fiorella; Ferbert, Andreas; Feki, Imed; Caballero-Oteyza, Andres; Dionne-Laporte, Alexandre; Amri, Mohamed; Noreau, Anne; Forlani, Sylvie; Cruz, Vitor T.; Mochel, Fanny; Coutinho, Paula; Dion, Patrick; Mhiri, Chokri; Schols, Ludger; Pouget, Jean; Darios, Frederic; Rouleau, Guy A.; Marques, Wilson; Brice, Alexis; Durr, Alexandra; Zuchner, Stephan; Stevanin, Giovanni 分享 收藏 分享 收藏 Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutationsPereira, Maria Conceicao; Loureiro, Jose Leal; Pinto-Basto, Jorge; Brandao, Eva; Lopes, Ana Margarida; Neves, Georgina; Dias, Pureza; Geraldes, Ruth; Martins, Isabel Pavao; Cruz, Vitor Tedim; Kamsteeg, Erik-Jan; Brunner, Han G.; Coutinho, Paula; Sequeiros, Jorge; Alonso, Isabel 分享 收藏 SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosumGoizet, C.; Boukhris, A.; Maltete, D.; Guyant-Marechal, L.; Truchetto, J.; Mundwiller, E.; Hanein, S.; Jonveaux, P.; Roelens, F.; Loureiro, J.; Godet, E.; Forlani, S.; Melki, J.; Auer-Grumbach, M.; Fernandez, J. C.; Martin-Hardy, P.; Sibon, I.; Sole, G.; Orignac, I.; Mhiri, C.; Coutinho, P.; Durr, A.; Brice, A.; Stevanin, G. 分享 收藏 Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients共济失调伴动眼运动性失用2型: 90例患者的临床、生物学和基因型/表型相关性研究Anheim, M.; Monga, B.; Fleury, M.; Charles, P.; Barbot, C.; Salih, M.; Delaunoy, J. P.; Fritsch, M.; Arning, L.; Synofzik, M.; Schoels, L.; Sequeiros, J.; Goizet, C.; Marelli, C.; Le Ber, I.; Koht, J.; Gazulla, J.; De Bleecker, J.; Mukhtar, M.; Drouot, N.; Ali-Pacha, L.; Benhassine, T.; Chbicheb, M.; M'Zahem, A.; Hamri, A.; Chabrol, B.; Pouget, J.; Murphy, R.; Watanabe, M.; Coutinho, P.; Tazir, M.; Durr, A.; Brice, A.; Tranchant, C.; Koenig, M. 分享 收藏 CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 55型遗传性痉挛性截瘫的纯和复杂形式的CYP7B1突变Goizet, Cyril; Boukhris, Amir; Durr, Alexandra; Beetz, Christian; Truchetto, Jeremy; Tesson, Christelle; Tsaousidou, Maria; Forlani, Sylvie; Guyant-Marechal, Lucie; Fontaine, Bertrand; Guimaraes, Joao; Isidor, Bertrand; Chazouilleres, Olivier; Wendum, Dominique; Grid, Djamel; Chevy, Francoise; Chinnery, Patrick F.; Coutinho, Paula; Azulay, Jean-Philippe; Feki, Imed; Mochel, Fanny; Wolf, Claude; Mhiri, Chokri; Crosby, Andrew; Brice, Alexis; Stevanin, Giovanni 分享 收藏 分享 收藏 
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