المؤلفون: Buchholz, Frank, Słabicki, Mikołaj, Theis, Mirko, Krastev, Dragomir B., Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M. Teresa, Stevanin, Giovanni

Thesis Advisors: Public Library of Science

المصدر: Plos biology, Bd. 8 (2010) Nr. 6; ISSN 1544-9173

مصطلحات موضوعية: DNA, Neurologie, ddc:570, ddc:610, rvk:XA 10000, rvk:WA 15000

وصف الملف: application/pdf

الاتاحة: http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-180795
http://www.qucosa.de/fileadmin/data/qucosa/documents/18079/journal.pbio.1000408.pdf

المؤلفون: Buchholz, Frank, Słabicki, Mikołaj, Theis, Mirko, Krastev, Dragomir B., Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M. Teresa, Stevanin, Giovanni

المصدر: Plos biology, Bd. 8 (2010) Nr. 6; ISSN 1544-9173

مصطلحات موضوعية: DNA, Neurologie, DNA, info:eu-repo/classification/ddc/570, ddc:570, info:eu-repo/classification/ddc/610, ddc:610

الاتاحة: https://tud.qucosa.de/id/qucosa%3A28927
https://tud.qucosa.de/api/qucosa%3A28927/attachment/ATT-0/

المؤلفون: Urtikova, Nataliya, Berson, Nadège, van Steenwinckel, Juliette, Doly, Stéphane, Truchetto, Jérémy, Maroteaux, Luc, Pohl, Michel, Conrath, Marie

المساهمون: Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Fer à Moulin, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0304-3959.

مصطلحات موضوعية: MESH: Animals, MESH: Disease Models, Animal, MESH: Serotonin 5-HT2 Receptor Agonists, MESH: Thiophenes, MESH: Ganglia, Spinal, MESH: Indoles, MESH: Male, MESH: Neuralgia, MESH: Nociceptors, MESH: Rats, Sprague-Dawley, MESH: Receptor, Serotonin, 5-HT2B, MESH: Sciatic Nerve, MESH: Sciatic Neuropathy, MESH: Serotonin, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology

Relation: info:eu-repo/semantics/altIdentifier/pmid/22525520; hal-01225065; https://hal.science/hal-01225065; https://hal.science/hal-01225065/document; https://hal.science/hal-01225065/file/PAIN-S-11-01032.pdf; PUBMED: 22525520

الاتاحة: https://hal.science/hal-01225065
https://hal.science/hal-01225065/document
https://hal.science/hal-01225065/file/PAIN-S-11-01032.pdf
https://doi.org/10.1016/j.pain.2012.03.024

المؤلفون: Słabicki, Mikołaj, Theis, Mirko, Krastev, Dragomir, B., Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M Teresa, Stevanin, Giovanni, Buchholz, Frank

المساهمون: Max Planck Institute of Molecular Cell Biology and Genetics (MPI-CBG), Max-Planck-Gesellschaft, Structural Bioinformatics, BIOTEC TU, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne CHU Saint-Etienne (CHU ST-E), Hôpital neurologique, Hospices Civils de Lyon (HCL), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), This study was funded by the Max Planck Society (to FB, AS), by the German Federal Ministry of Education and Research grants Go-Bio 0315105 (to FB), NGFN-plus 01GS0859 (to FB), by the Klaus Tschira Stiftung GmbH (to JT, SS, and MTP), by NIH NIGMS grant 1R01GM070986-01A1 (to AS), by the European Union grant EUROSPA consortium (to AB), by the French National Agency for Research grants ANR-SPG11 (to GS) and ANR-SPAX (to AD), and by the Verum foundation (to AB).

المصدر: ISSN: 1544-9173.

مصطلحات موضوعية: MESH: DNA Repair, MESH: Gene Knockdown Techniques, MESH: Genome, Human, MESH: Humans, MESH: RNA Interference, MESH: Recombination, Genetic, MESH: Spastic Paraplegia, Hereditary, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

Relation: info:eu-repo/semantics/altIdentifier/pmid/20613862; inserm-00707271; https://inserm.hal.science/inserm-00707271; https://inserm.hal.science/inserm-00707271/document; https://inserm.hal.science/inserm-00707271/file/journal.pbio.1000408.pdf; PUBMED: 20613862

الاتاحة: https://inserm.hal.science/inserm-00707271
https://inserm.hal.science/inserm-00707271/document
https://inserm.hal.science/inserm-00707271/file/journal.pbio.1000408.pdf
https://doi.org/10.1371/journal.pbio.1000408

المؤلفون: Goizet, Cyril, Boukhris, Amir, Durr, Alexandra, Beetz, Christian, Truchetto, Jeremy, Tesson, Christelle, Tsaousidou, Maria, Forlani, Sylvie, Guyant-Maréchal, Lucie, Fontaine, Bertrand, Guimarães, João, Isidor, Bertrand, Chazouillères, Olivier, Wendum, Dominique, Grid, Djamel, Chevy, Françoise, Chinnery, Patrick F, Coutinho, Paula, Azulay, Jean-Philippe, Feki, Imed, Mochel, Fanny, Wolf, Claude, Mhiri, Chokri, Crosby, Andrew, Brice, Alexis, Stevanin, Giovanni

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

Relation: http://brain.oxfordjournals.org/cgi/content/short/awp073v1; http://dx.doi.org/10.1093/brain/awp073

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/awp073v1
https://doi.org/10.1093/brain/awp073

المؤلفون: Boukhris, Amir, Stevanin, Giovanni, Feki, Imed, Denis, Elodie, Elleuch, Nizar, Miladi, Mohamed Imed, Truchetto, Jérémy, Denora, Paola, Belal, Samir, Mhiri, Chokri, Brice, Alexis

المساهمون: Department of neurology, Hopital Habib Bourguiba - Habib Bourguiba Hospital Sfax, 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), Department of Neurology, National Institute of neurology, This work was financially supported by the French Tunisian cooperation project (Drs Briceand Mhiri) led by INSERM (France) and Direction Générale de la Recherche Scientifique et de la Rénovation Technologique (DGRSRT) (Tunisia), the VERUM Foundation (Dr Brice), the GIS (Groupement d'Inte´reˆt Scientifique)– Maladies Rares (Dr Stevanin), and the French Agency for Neuroscience Research (to the SPATAX Network and Dr Stevanin). Dr Boukhris received a fellowship from the French Association Strumpell–Lorrain.

المصدر: ISSN: 0003-9942 ; Archives of Neurology -Chigago- ; https://inserm.hal.science/inserm-00277198 ; Archives of Neurology -Chigago-, 2008, 65 (3), pp.393-402. ⟨10.1001/archneur.65.3.393⟩.

مصطلحات موضوعية: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/18332254; inserm-00277198; https://inserm.hal.science/inserm-00277198; https://inserm.hal.science/inserm-00277198/document; https://inserm.hal.science/inserm-00277198/file/Fig2.pdf; https://inserm.hal.science/inserm-00277198/file/Fig1.pdf; https://inserm.hal.science/inserm-00277198/file/Fig3.pdf; https://inserm.hal.science/inserm-00277198/file/HSP-Boukhris.pdf; PUBMED: 18332254

الاتاحة: https://inserm.hal.science/inserm-00277198
https://inserm.hal.science/inserm-00277198/document
https://inserm.hal.science/inserm-00277198/file/Fig2.pdf
https://inserm.hal.science/inserm-00277198/file/Fig1.pdf
https://inserm.hal.science/inserm-00277198/file/Fig3.pdf
https://inserm.hal.science/inserm-00277198/file/HSP-Boukhris.pdf
https://doi.org/10.1001/archneur.65.3.393

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

الاتاحة: http://brain.oxfordjournals.org/cgi/content/short/131/3/772
https://doi.org/10.1093/brain/awm293

المؤلفون: Denora, Paola S., Brockmann, Knut, Ciccolella, Marianna, Truchetto, Jeremy, Stevanin, Giovanni, Santorelli, Filippo Maria

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/20343; 000276337400019

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/20343
https://doi.org/10.1002/mds.22964

المؤلفون: Boukhris, Amir, Feki, Imed, Elleuch, Nizar, Miladi, Mohamed Imed, Boland-Augé, Anne, Truchetto, Jérémy, Mundwiller, Emeline, Jezequel, Nadia, Zelenika, Diana, Mhiri, Chokri, Brice, Alexis, Stevanin, Giovanni

المصدر: neurogenetics ; volume 11, issue 4, page 441-448 ; ISSN 1364-6745 1364-6753

الاتاحة: http://dx.doi.org/10.1007/s10048-010-0249-2
http://link.springer.com/content/pdf/10.1007/s10048-010-0249-2.pdf
http://link.springer.com/article/10.1007/s10048-010-0249-2/fulltext.html
http://link.springer.com/content/pdf/10.1007/s10048-010-0249-2

المؤلفون: Denora, Paola S., Schlesinger, David, Casali, Carlo, Kok, Fernando, Tessa, Alessandra, Boukhris, Amir, Azzedine, Hamid, Dotti, Maria Teresa, Bruno, Claudio, Truchetto, Jeremy, Biancheri, Roberta, Fedirko, Estelle, Di Rocco, Maja, Bueno, Clarissa, Malandrini, Alessandro, Battini, Roberta, Sickl, Elisabeth, de Leva, Maria Fulvia, Boespflug-Tanguy, Odile, Silvestri, Gabriella, Simonati, Alessandro, Said, Edith, Ferbert, Andreas, Criscuolo, Chiara, Heinimann, Karl, Modoni, Anna, Weber, Peter, Palmeri, Silvia, Plasilova, Martina, Pauri, Flavia, Cassandrini, Denise, Battisti, Carla, Pini, Antonella, Tosetti, Michela, Hauser, Erwin, Masciullo, Marcella, Di Fabio, Roberto, Piccolo, Francesca, Denis, Elodie, Cioni, Giovanni, Massa, Roberto, Della Giustina, Elvio, Calabrese, Olga, Melone, Marina A. B., De Michele, Giuseppe, Federico, Antonio, Bertini, Enrico, Durr, Alexandra, Brockmann, Knut, van der Knaap, Marjo S., Zatz, Mayana, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, Santorelli, Filippo M.

Relation: Denora, Paola S. and Schlesinger, David and Casali, Carlo and Kok, Fernando and Tessa, Alessandra and Boukhris, Amir and Azzedine, Hamid and Dotti, Maria Teresa and Bruno, Claudio and Truchetto, Jeremy and Biancheri, Roberta and Fedirko, Estelle and Di Rocco, Maja and Bueno, Clarissa and Malandrini, Alessandro and Battini, Roberta and Sickl, Elisabeth and de Leva, Maria Fulvia and Boespflug-Tanguy, Odile and Silvestri, Gabriella and Simonati, Alessandro and Said, Edith and Ferbert, Andreas and Criscuolo, Chiara and Heinimann, Karl and Modoni, Anna and Weber, Peter and Palmeri, Silvia and Plasilova, Martina and Pauri, Flavia and Cassandrini, Denise and Battisti, Carla and Pini, Antonella and Tosetti, Michela and Hauser, Erwin and Masciullo, Marcella and Di Fabio, Roberto and Piccolo, Francesca and Denis, Elodie and Cioni, Giovanni and Massa, Roberto and Della Giustina, Elvio and Calabrese, Olga and Melone, Marina A. B. and De Michele, Giuseppe and Federico, Antonio and Bertini, Enrico and Durr, Alexandra and Brockmann, Knut and van der Knaap, Marjo S. and Zatz, Mayana and Filla, Alessandro and Brice, Alexis and Stevanin, Giovanni and Santorelli, Filippo M. (2009) Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion. Human mutation : variations, databases, and diseases, Vol. 30 , E500-519.; info:pmid/19105190; urn:ISSN:1098-1004

الاتاحة: http://edoc.unibas.ch/dok/A6003845
https://edoc.unibas.ch/25073/

المؤلفون: Denora, Paola S., Muglia, Maria, Casali, Carlo, Truchetto, Jérémy, Silvestri, Gabriella, Messina, Demetrio, Boukrhis, Amir, Magariello, Angela, Modoni, Anna, Masciullo, Marcella, Malandrini, Alessandro, Morelli, Maurizio, de Leva, Maria Fulvia, Villanova, Marcello, Giugni, Elisabetta, Citrigno, Luigi, Rizza, Teresa, Federico, Antonio, Pierallini, Alberto, Quattrone, Aldo, Filla, Alessandro, Brice, Alexis, Stevanin, Giovanni, Santorelli, Filippo M.

المصدر: Journal of the Neurological Sciences ; volume 277, issue 1-2, page 22-25 ; ISSN 0022-510X

الاتاحة: http://dx.doi.org/10.1016/j.jns.2008.09.039
https://api.elsevier.com/content/article/PII:S0022510X08005042?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022510X08005042?httpAccept=text/plain

المؤلفون: Public Library of Science, Buchholz, Frank, Słabicki, Mikołaj, Theis, Mirko, Krastev, Dragomir B., Samsonov, Sergey, Mundwiller, Emeline, Junqueira, Magno, Paszkowski-Rogacz, Maciej, Teyra, Joan, Heninger, Anne-Kristin, Poser, Ina, Prieur, Fabienne, Truchetto, Jérémy, Confavreux, Christian, Marelli, Cécilia, Durr, Alexandra, Camdessanche, Jean Philippe, Brice, Alexis, Shevchenko, Andrej, Pisabarro, M. Teresa, Stevanin, Giovanni

المصدر: Plos biology, Bd. 8 (2010) Nr. 6; ISSN 1544-9173

مصطلحات الفهرس: DNA, Neurologie, ddc:570, ddc:610, rvk:XA 10000, rvk:WA 15000, doc-type:article

URL: http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-180795
http://www.qucosa.de/fileadmin/data/qucosa/documents/18079/journal.pbio.1000408.pdf

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

مصطلحات موضوعية: spastic paraplegias, SPG11, thin corpus callosum, lower motor neuron degeneration, https://purl.org/becyt/ford/3.2, https://purl.org/becyt/ford/3

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/brain/article/131/3/772/315139; http://hdl.handle.net/11336/241713; CONICET Digital; CONICET

الاتاحة: http://hdl.handle.net/11336/241713

المؤلفون: Urtikova N, Berson N, Van Steenwinckel J, Doly S, Truchetto J, Maroteaux L, Pohl M, Conrath M, Urtikova, Nataliya, Berson, Nadège, Van Steenwinckel, Juliette, Doly, Stéphane, Truchetto, Jérémy, Maroteaux, Luc, Pohl, Michel, Conrath, Marie

المصدر: PAIN; Jun2012, Vol. 153 Issue 6, p1320-1331, 12p

المؤلفون: Urtikova, Nataliya, Berson, Nadège, Van Steenwinckel, Juliette, Doly, Stéphane, Truchetto, Jérémy, Maroteaux, Luc, Pohl, Michel, Conrath, Marie

المصدر: PAIN; Jun2012, Vol. 153 Issue 6, p1320-1331, 12p

المؤلفون: Boukhris, Amir, Stevanin, Giovanni, Feki, Imed, Denis, Elodie, Elleuch, Nizar, Miladi, Mohamed Imed, Truchetto, Jérémy, Denora, Paola, Belal, Samir, Mhiri, Chokri, Brice, Alexis

المصدر: Archives of Neurology; Mar2008, Vol. 65 Issue 3, p393-402, 10p