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1Academic Journal
المؤلفون: Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim
المصدر: Genetics in Medicine ; volume 23, issue 10, page 2021 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-020-01064-y
https://www.nature.com/articles/s41436-020-01064-y.pdf
https://www.nature.com/articles/s41436-020-01064-y
https://api.elsevier.com/content/article/PII:S1098360021051169?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051169?httpAccept=text/plain -
2Academic Journal
المؤلفون: Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim
المصدر: Genetics in Medicine ; volume 22, issue 11, page 1851-1862 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-020-0899-x
http://www.nature.com/articles/s41436-020-0899-x.pdf
http://www.nature.com/articles/s41436-020-0899-x
https://api.elsevier.com/content/article/PII:S1098360021007863?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021007863?httpAccept=text/plain -
3Academic Journal
المؤلفون: Hecham, Nassima, Nouioua, Sonia, Sifi, Yamina, Toubal, Nadia, Aissa, Leila Ait, Hattab, Samira, Batsi, Dounia, Hamimed, Amine, Berkane, Fatima, Oudrer, Naima, Aidi, Ahmed, Abrouk, Samira, Daoudi, Smail, Hamri, Abdelmadjid, Assami, Salima, Tazir, Meriem
المصدر: Multiple Sclerosis Journal ; volume 20, issue 14, page 1923-1924 ; ISSN 1352-4585 1477-0970
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4Academic Journal
المؤلفون: Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.
المصدر: The American Journal of Human Genetics ; volume 87, issue 3, page 410-417 ; ISSN 0002-9297
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5Academic Journal
المؤلفون: Stevanin, Giovanni, Azzedine, Hamid, Denora, Paola, Boukhris, Amir, Tazir, Meriem, Lossos, Alexander, Rosa, Alberto Luis, Lerer, Israela, Hamri, Abdelmadjid, Alegria, Paulo, Loureiro, José, Tada, Masayoshi, Hannequin, Didier, Anheim, Mathieu, Goizet, Cyril, Gonzalez-Martinez, Victoria, Le Ber, Isabelle, Forlani, Sylvie, Iwabuchi, Kiyoshi, Meiner, Vardiela, Uyanik, Goekhan, Erichsen, Anne Kjersti, Feki, Imed, Pasquier, Florence, Belarbi, Soreya, Cruz, Vitor T., Depienne, Christel, Truchetto, Jeremy, Garrigues, Guillaume, Tallaksen, Chantal, Tranchant, Christine, Nishizawa, Masatoyo, Vale, José, Coutinho, Paula, Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis, Durr, Alexandra, on behalf of the SPATAX consortium
مصطلحات موضوعية: Original Articles
وصف الملف: text/html
Relation: http://brain.oxfordjournals.org/cgi/content/short/131/3/772; http://dx.doi.org/10.1093/brain/awm293
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6Academic Journal
المؤلفون: Hanein, Sylvain, Martin, Elodie, Boukhris, Amir, Byrne, Paula, Goizet, Cyril, Hamri, Abdelmadjid, Benomar, Ali, Lossos, Alexander, Denora, Paola, Fernandez, José, Elleuch, Nizar, Forlani, Sylvie, Durr, Alexandra, Feki, Imed, Hutchinson, Michael, Santorelli, Filippo M., Mhiri, Chokri, Brice, Alexis, Stevanin, Giovanni
المصدر: The American Journal of Human Genetics ; volume 82, issue 4, page 992-1002 ; ISSN 0002-9297
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7Academic Journal
المؤلفون: Hamdouche, Nadira, Sifi, Yamina, Mahdi, Djahida, Sifi, Karima, Hamri, Abdelmadjid, Abadi, Nouredine, Dalichaouche, Imene
المصدر: Revue Neurologique ; volume 176, page S23 ; ISSN 0035-3787
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8Electronic Resource
المؤلفون: Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergen, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Darios, Frédéric, Forlani, Sylvie, Site, Pitié Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Fontaine, Bertrand, Azulay, Jean Philippe, Boesfplug-Tanguy, Odile, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Nielsen, Jørgen E., Svenstrup, Kirsten
المصدر: Roux , T , Barbier , M , Papin , M , Davoine , C S , Sayah , S , Coarelli , G , Charles , P , Marelli , C , Parodi , L , Tranchant , C , Goizet , C , Klebe , S , Lohmann , E , Van Maldergen , L , van Broeckhoven , C , Coutelier , M , Tesson , C , Stevanin , G , Duyckaerts , C , Brice , A , Durr , A , Durr , A , Stevanin , G , Brice , A , Darios , F , Forlani , S , Site , P S , Banneau , G , Cazeneuve , C , Charles , P , Duyckaerts , C , Fontaine , B , Azulay , J P , Boesfplug-Tanguy , O , Goizet , C , Hannequin , D , Hazan , J , Burgo , A , Verny , C , Koenig , M , Labauge , P , Marelli , C , N’guyen , K , Rodriguez , D , Belarbi , S , Hamri , A , Tazir , M , Boesch , S , Nielsen , J E , Svenstrup , K & SPATAX network 2020 , ' Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias : a frequent cause of predominant cognitive impairment ' , Genetics in Medicine , vol. 22 , no. 11 , pp. 1851-1862 .
مصطلحات الفهرس: cognitive impairment, SCA48, SCAR16, spinocerebellar ataxia, STUB1, article
URL:
https://curis.ku.dk/portal/da/publications/clinical-neuropathological-and-genetic-characterization-of-stub1-variants-in-cerebellar-ataxias(725dac69-7ee8-4f55-b4f3-e4f486e2f07f).html https://doi.org/10.1038/s41436-020-0899-x -
9Academic Journal
المؤلفون: Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thomas, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexis, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charles, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgios, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir, Mhiri, Chokri, Karabay, Arzu, Nethisinghe, Suran, Okane, Cahir, Oliva, Megan, Reid, Evan, Warner, Thomas, Wood, Nicholas
المساهمون: Coutelier, Marie, Hammer, Monia B., Stevanin, Giovanni, Monin, Marie-Lorraine, Davoine, Claire-Sophie, Mochel, Fanny, Labauge, Pierre, Ewenczyk, Claire, Ding, Jinhui, Gibbs, J. Raphael, Hannequin, Didier, Melki, Judith, Toutain, Annick, Laugel, Vincent, Forlani, Sylvie, Charles, Perrine, Broussolle, Emmanuel, Thobois, Stéphane, Afenjar, Alexandra, Anheim, Mathieu, Calvas, Patrick, Castelnovo, Giovanni, De Broucker, Thoma, Vidailhet, Marie, Moulignier, Antoine, Ghnassia, Robert T., Tallaksen, Chantal, Mignot, Cyril, Goizet, Cyril, Le Ber, Isabelle, Ollagnon-Roman, Elisabeth, Pouget, Jean, Brice, Alexi, Singleton, Andrew, Durr, Alexandra, Belarabi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Ullmann, Urielle, Jardim, Laura, Guergueltcheva, Velina, Tournev, Ivalo, Soong, Bing-Wen, Linarès, Olga Lucia Pedraza, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Azulay, Jean-Philippe, Banneau, Guillaume, Boesfplug-Tanguy, Odile, Burgo, Andrea, Cazeneuve, Cécile, Darios, Frédéric, Depienne, Christel, Duyckaerts, Charle, Fontaine, Bertrand, Hazan, Jamilé, Koenig, Michel, Marelli, Cecilia, N'Guyen, Karine, Rodriguez, Diana, Sittler, Annie, Verny, Christophe, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Koutsis, Georgio, Lossos, Alexander, Antenora, Antonella, Bassi, Maria Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Lieto, Maria, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Roxburgh, Richard, Erichsen, Anne Kjersti, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Axpe, Idoia Rouco, Roumani, Samir, Kremer, Berry, Van Roon-Mom, Willeke, Boukhris, Amir
مصطلحات موضوعية: Neurology (clinical)
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000432316000013; volume:75; issue:5; firstpage:591; lastpage:599; numberofpages:9; journal:JAMA NEUROLOGY; http://hdl.handle.net/20.500.11768/86229; https://jamanetwork.com/journals/jamaneurology/currentissue
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10Academic Journal
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
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11Academic Journal
المصدر: Revue Neurologique ; volume 175, page S63 ; ISSN 0035-3787
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12Academic Journal
المصدر: Revue Neurologique ; volume 175, page S63 ; ISSN 0035-3787
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13Academic Journal
المؤلفون: Meziani, Amina, Sifi, Yamina, Semra, Houda, Benhamada, Samia, Boulefkhad, Assia, Hamri, Abdelmadjid
المصدر: Revue Neurologique ; volume 175, page S42-S43 ; ISSN 0035-3787
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14Academic Journal
المؤلفون: Souak, Abdelkabir, Mecheri, Yasser, Brahim, Boudraa, Abderrahim, M’zahem, Boulefkhad, Assia, Hamri, Abdelmadjid
المصدر: Revue Neurologique ; volume 175, page S114 ; ISSN 0035-3787
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15Academic Journal
المؤلفون: Mecheri, Yasser, Tabet, Aouatef, Abubakr, Seddik Fekraoui, Semra, Houda, Boulefkhad, Assia, Hamri, Abdelmadjid
المصدر: Revue Neurologique ; volume 175, page S126 ; ISSN 0035-3787
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16Academic Journal
المؤلفون: dinar, Souad, Abderrahim, M’zahem, Serradj, Fatima, Mecheri, Yasser, Tabet, Aouatef, Hamri, Abdelmadjid
المصدر: Revue Neurologique ; volume 175, page S127-S128 ; ISSN 0035-3787
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17Academic Journal
المؤلفون: Tabet, Aouatef, Mecheri, Yasser, Semra, Houda, Dinar, Souad, Boulefkhad, Assia, Sifi, Yamina, Hamri, Abdelmadjid
المصدر: Revue Neurologique ; volume 175, page S145 ; ISSN 0035-3787
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18Academic Journal
المؤلفون: Nemer, Mohamed Radouane, Assia, Boulefkhad, Sifi, Yamina, Ibtissem, Laieb, Khellaf, Saddek, Hamri, Abdelmadjid
المصدر: Revue Neurologique ; volume 174, page S16-S17 ; ISSN 0035-3787
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19Academic Journal
المصدر: Revue Neurologique ; volume 174, page S17 ; ISSN 0035-3787
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20Academic Journal
المؤلفون: Gicquel, Evelyne, Maizonnier, Natacha, Foltz, Steven, Martin, William, Bourg, Nathalie, Svinartchouk, Fedor, Charton, Karine, Beedle, Aaron, M., Dalichaouche, Imene, Sifi, Yamina, Roudaut, Carinne, Sifi, Karima, Hamri, Abdelmadjid, Rouabah, Leila, Abadi, Noureddine, Richard, Isabelle
المساهمون: Généthon, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, University of Georgia USA, EpiVax, Inc, Université Paris-Saclay, Laboratoire Analyse, Modélisation et Matériaux pour la Biologie et l'Environnement (LAMBE - UMR 8587), Université d'Évry-Val-d'Essonne (UEVE)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-CY Cergy Paris Université (CY), Department of Molecular Physiology and Biophysics, University of Iowa Iowa City, Service de Neurologie, Hôpital Benbadis
المصدر: Muscle & nerve. Supplement. ; https://hal.science/hal-02333075 ; Muscle & nerve. Supplement., 2017, 56 (1), pp.129-135. ⟨10.1002/mus.25443⟩
مصطلحات موضوعية: Algeria, dystrophin, muscular dystrophy, mutation, sarcoglycan, MESH: Adolescent, MESH: Adult, MESH: Algeria, MESH: Child, Preschool, MESH: Cohort Studies, MESH: Dystrophin, MESH: Family Health, MESH: Female, MESH: Genetic Testing, MESH: Humans, MESH: Male, MESH: Muscular Dystrophies, MESH: Mutation, MESH: Sarcoglycanopathies, MESH: Sarcoglycans, MESH: Statistics, Nonparametric, MESH: Young Adult, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.BIO]Life Sciences [q-bio]/Biotechnology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Relation: info:eu-repo/semantics/altIdentifier/pmid/27759885; hal-02333075; https://hal.science/hal-02333075; PUBMED: 27759885