المؤلفون: Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, Silveira, Isabel

المصدر: The American Journal of Human Genetics ; volume 101, issue 1, page 87-103 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.06.007Test
https://api.elsevier.com/content/article/PII:S0002929717302422?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929717302422?httpAccept=text/plainTest

المؤلفون: Coutelier, Marie, Goizet, Cyril, Durr, Alexandra, Habarou, Florence, Morais, Sara, Dionne-Laporte, Alexandre, Tao, Feifei, Konop, Juliette, Stoll, Marion, Charles, Perrine, Jacoupy, Maxime, Matusiak, Raphaël, 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, Frédéric, Loureiro, José L., Zuchner, Stephan, Ottolenghi, Chris, Mochel, Fanny, Stevanin, Giovanni

المصدر: Brain ; volume 138, issue 8, page 2191-2205 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awv143Test
http://academic.oup.com/brain/article-pdf/138/8/2191/13800016/awv143.pdfTest

المؤلفون: Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric

المصدر: The American Journal of Human Genetics ; volume 94, issue 2, page 268-277 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.12.005Test
https://api.elsevier.com/content/article/PII:S0002929713005752?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929713005752?httpAccept=text/xmlTest

المؤلفون: Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni

المصدر: The American Journal of Human Genetics ; volume 92, issue 2, page 238-244 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.11.021Test
https://api.elsevier.com/content/article/PII:S0002929712006349?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712006349?httpAccept=text/plainTest

المؤلفون: Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, 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, Andrés, 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, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni

المصدر: The American Journal of Human Genetics ; volume 93, issue 1, page 118-123 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.05.006Test
https://api.elsevier.com/content/article/PII:S000292971300219X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292971300219X?httpAccept=text/plainTest

المؤلفون: Coutinho, Paula, Ruano, Luis, Loureiro, José L., Cruz, Vitor T., Barros, José, Tuna, Assunção, Barbot, Clara, Guimarães, João, Alonso, Isabel, Silveira, Isabel, Sequeiros, Jorge, Marques Neves, José, Serrano, Pedro, Silva, M. Carolina

المصدر: JAMA Neurology ; volume 70, issue 6, page 746 ; ISSN 2168-6149

الإتاحة: https://doi.org/10.1001/jamaneurol.2013.1707Test
http://jamanetwork.com/journals/jamaneurology/fullarticle/1680457Test

المؤلفون: Coutinho, Paula, Barros, José, Zemmouri, Rabea, Guimarães, Joás, Alves, Cristina, Chorão, Riu, Lourenço, Esmeralda, Ribeiro, Paula, Loureiro, José L., Santos, José V., Hamri, Abdelmadjid, Paternotte, Caroline, Hazan, Jamilé, Silva, Maria-Carolina, Prud'homme, J.-François, Grid, Djamel

المصدر: Archives of Neurology ; volume 56, issue 8, page 943 ; ISSN 0003-9942

الإتاحة: https://doi.org/10.1001/archneur.56.8.943Test
http://jamanetwork.com/journals/jamaneurology/fullarticle/775324Test

المؤلفون: Loureiro, Joana R., Oliveira, Cláudia L., Mota, Carolina, Castro, Ana F., Costa, Cristina, Loureiro, José L., Coutinho, Paula, Martins, Sandra, Sequeiros, Jorge, Silveira, Isabel

المصدر: Human Mutation; Apr2019, Vol. 40 Issue 4, p404-412, 9p

المؤلفون: Stevanin, Giovanni, Santorelli, Filippo M, Azzedine, Hamid, Coutinho, Paula, Chomilier, Jacques, Denora, Paola S, Martin, Elodie, Ouvrard-Hernandez, Anne-Marie, Tessa, Alessandra, Bouslam, Naïma, Lossos, Alexander, Charles, Perrine, Loureiro, José L, Elleuch, Nizar, Confavreux, Christian, Cruz, Vítor T, Ruberg, Merle, Leguern, Eric, Grid, Djamel, Tazir, Meriem, Fontaine, Bertrand, Filla, Alessandro, Bertini, Enrico, Durr, Alexandra, Brice, Alexis

المساهمون: Neurologie et thérapeutique expérimentale, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unit of Molecular Medicine, IRCCS, UnIGENe, Universidade do Porto = University of Porto, Institut de minéralogie et de physique des milieux condensés (IMPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Institut de Physique du Globe de Paris (IPG Paris)-Centre National de la Recherche Scientifique (CNRS), Département de neurologie, Université Joseph Fourier - Grenoble 1 (UJF)-Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Department of Neurology, Hadassah Hebrew University Medical Center Jerusalem, Departamento de Neurologia, Hospital S. Sebastiao, Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital Sfax, Hopital Neurologique, Ministère de la santé, Service de Neurologie A-Hopital Neurologique Pierre Wertheimer, Généthon, Service de Neurologie, Hopital Mustapha, Affections de la Myeline et des Canaux Ioniques Musculaires, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Neurological Sciences, University of Naples Federico II = Università degli studi di Napoli Federico II, ANR-05-MRAR-0001,Cav3pathies,Approches physiopathologique et moléculaire de la signalisation calcique dans les caveolinopathies musculaires(2005)

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: MESH: Adolescent, MESH: Adult, MESH: Corpus Callosum, MESH: DNA Mutational Analysis, MESH: Genotype, MESH: Humans, MESH: Linkage (Genetics), MESH: Lod Score, MESH: Molecular Sequence Data, MESH: Mutation, MESH: Pedigree, MESH: Proteins, MESH: Age of Onset, MESH: Rats, Sprague-Dawley, MESH: Spastic Paraplegia, Hereditary, MESH: Animals, MESH: Base Sequence, MESH: COS Cells, MESH: Cercopithecus aethiops, MESH: Cerebral Cortex, MESH: Child, MESH: Chromosomes, Human, Pair 15, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/17322883; hal-00281704; https://hal.science/hal-00281704Test; PUBMED: 17322883

الإتاحة: https://doi.org/10.1038/ng1980Test
https://hal.science/hal-00281704Test

المؤلفون: Stevanin, Giovanni, Montagna, Giorgia, Azzedine, Hamid, Valente, Enza Maria, Durr, Alexandra, Scarano, Valentina, Bouslam, Naima, Cassandrini, Denise, Denora, Paola S., Criscuolo, Chiara, Belarbi, Soraya, Orlacchio, Antonio, Jonveaux, Philippe, Silvestri, Gabriella, Hernandez, Anne Marie Ouvrad, De Michele, Giuseppe, Tazir, Meriem, Mariotti, Caterina, Brockmann, Knut, Malandrini, Alessandro, Van Der Knapp, Marjo S., Neri, Marcella, Tonekaboni, Hassan, Melone, Mariarosa A.B., Tessa, Alessandra, Dotti, M. Teresa, Tosetti, Michela, Pauri, Flavia, Federico, Antonio, Casali, Carlo, Cruz, Vitor T., Loureiro, José L., Zara, Federico, Forlani, Sylvie, Bertini, Enrico, Coutinho, Paula, Filla, Alessandro, Brice, Alexis, Santorelli, Filippo M.

المصدر: Stevanin , G , Montagna , G , Azzedine , H , Valente , E M , Durr , A , Scarano , V , Bouslam , N , Cassandrini , D , Denora , P S , Criscuolo , C , Belarbi , S , Orlacchio , A , Jonveaux , P , Silvestri , G , Hernandez , A M O , De Michele , G , Tazir , M , Mariotti , C , Brockmann , K , Malandrini , A , Van Der Knapp , M S , Neri , M , Tonekaboni , H ....

العلاقة: https://research.vumc.nl/en/publications/d2aace13-090e-4361-82f8-b94e68da7d02Test

الإتاحة: https://doi.org/10.1007/s10048-006-0044-2Test
https://research.vumc.nl/en/publications/d2aace13-090e-4361-82f8-b94e68da7d02Test
http://www.scopus.com/inward/record.url?scp=33746054137&partnerID=8YFLogxKTest