المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M.L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P.J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Geneviève

المصدر: Pelletier , F , Perrier , S , Cayami , F K , Mirchi , A , Saikali , S , Tran , L T , Ulrick , N , Guerrero , K , Rampakakis , E , van Spaendonk , R M L , Naidu , S , Pohl , D , Gibson , W T , Demos , M , Goizet , C , Tejera-Martin , I , Potic , A , Fogel , B L , Brais , B , Sylvain , M , Sébire , G , Lourenço , C M , Bonkowsky , J ....

العلاقة: https://research.vumc.nl/en/publications/4ed1cf4c-2852-4385-8e8b-e7bc6af4a12aTest

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://research.vumc.nl/en/publications/4ed1cf4c-2852-4385-8e8b-e7bc6af4a12aTest
http://www.scopus.com/inward/record.url?scp=85097520880&partnerID=8YFLogxKTest

المؤلفون: Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur Shashidhar, Mojarrad, Majid, Khashab, Heba Youssef E.L., deHoll, Leigh, Yue, Wyatt Wai Yin, Alsaif, Hessa S., Zanetti, María Natalia, Bello, Oscar, Person, Richard Erwin, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh Heidari, Efthymiou, Stephanie, El-Bassyouni, Hala Tabie, Soliman, Doaa Refaey, Tekeş, Selahattin, Özer, Leyla, Baltacı, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya., Fowzan S., Houlden, Henry H., Groppa, Stanislav A., Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia M., Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belén, Di Rosa, Gabriella, Goraya, Jatinder Singh, Mine, June, Avdjieva-Tzavella, Daniela Mircheva, Kathom, Hadil Mohamed, Tincheva, Radka Stefanova, Banu, Selina H., Pineda-Marfà, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., Verrottï, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard G., Papacostas, Savvas S., Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz Hamid, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama M., Koutsis, Georgios, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, M., Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed

مصطلحات موضوعية: Cleft palate, Epilepsy, GAD1, Muscle weakness, Neurodevelopmental delay

وصف الملف: application/pdf

العلاقة: Brain; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M. ve diğerleri. (2020). Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants. Brain, 143(8), 2388-2397.; https://academic.oup.com/brain/article/143/8/2388/5875729Test; https://hdl.handle.net/11468/7447Test; 143; 2388; 2397; WOS:000825023900016; 2-s2.0-85090075296; Q1

الإتاحة: https://doi.org/10.1093/brain/awaa178Test
https://hdl.handle.net/11468/7447Test
https://academic.oup.com/brain/article/143/8/2388/5875729Test

المؤلفون: Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Krishnakumar, Shyam S.

المساهمون: V. Salpietro, N.T. Malintan, I. Llano-Riva, C.G. Spaeth, S. Efthymiou, P. Striano, J. Vandrovcova, M.C. Cutrupi, R. Chimenz, E. David, G. Di Rosa, A. Marce-Grau, M. Raspall-Chaure, E. Martin-Hernandez, F. Zara, C. Minetti, Y. Kriouile, M. El Khorassani, M. Aguennouz, B. Karashova, D. Avdjieva, H. Kathom, R. Tincheva, L. Van Maldergem, W. Nachbauer, S. Boesch, L. Arning, D. Timmann, B. Cormand, B. Pérez-Dueña, E. Pironti, J.S. Goraya, T. Sultan, S. Kirmani, S. Ibrahim, F. Jan, J. Mine, S. Banu, P. Veggiotti, M.D. Ferrari, A. Verrotti, G.L. Marseglia, S. Savasta, B. Garavaglia, C. Scuderi, E. Borgione, V. Dipasquale, S. Portaro, B.M. Sanchez, M. Pineda-Marfa, F. Munell, A. Macaya, R. Bole, G. Heimer, S. Papacosta, A. Manole, N. Malintan, M.N. Zanetti, M.G. Hanna, J.E. Rothman, D.M. Kullmann, H. Houlden, O.D. Bello, R. De Zorzi, S. Fortuna, A. Dauber, M. Alkhawaja, K. Mankad, A. Vitobello, Q. Thoma, F.T. Mau-Them, L. Faivre, F. Martinez-Azorin, C.E. Prada, S.S. Krishnakumar

مصطلحات موضوعية: autism, epilepsy, movement disorder, neurodevelopmental disorder, neuronal exocytosi, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetic, Genetics (clinical), Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30929742; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700012; volume:104; issue:4; firstpage:721; lastpage:730; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/640796Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/2434/640796Test

المؤلفون: Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Groppa, Stanislav, Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Goraya, Jatinder S, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D, van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Rothman, James

المساهمون: Wellcome Trust, National Institute for Health Research University, MDUK, Muscular Dystrophy Association, Radboudumc and RIMLS Nijmegen, Ministry of Science, Research and the Arts of Baden-Württemberg, European Social Fund

المصدر: Brain ; volume 142, issue 10, page 2948-2964 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awz248Test
http://academic.oup.com/brain/article-pdf/142/10/2948/30071464/awz248.pdfTest

المؤلفون: Schottlaender, Lucia, Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John, Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Pittman, Alan, Mendes de Oliveira, João Ricardo, De Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick, Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry, Groppa, Stanislav, Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed

المساهمون: Centre de Recherche en Cancérologie de Marseille (CRCM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU)

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03155754; https://hal.archives-ouvertes.fr/hal-03155754Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.02.007Test
https://hal.archives-ouvertes.fr/hal-03155754Test

المؤلفون: Wilson, Matthew, Warman Chardon, Jodi, Vandrovcova, Jana, J, Zanetti, M. Natalia, Zamba‐papanicolaou, Eleni, Pope, Simon, Conte, Maria, Abis, Giancarlo, Liu, Yo‐tsen, Tribollet, Eloise, Botía, Juan, Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin, Eaton, Alison, Osmond, Matthew, M, Ito, Yoko, Bourque, Pierre, Jepson, James, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary, M, Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon, Wood, Nicholas, Boycott, Kym, Mills, Philippa, Clayton, Peter, Kriouile, Yamna, Khorassani, Mohamed El, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda‐marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel, van den Maagdenberg, Arn, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García‐silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Rothman, James, E, Giunti, Paola, Houlden, Henry, Chelban, Viorica, Salpietro, Vincenzo, Oconnor, Emer, Efthymiou, Stephanie, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Hostettler, Isabel, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen‐yang, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Morello, Giovanna, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves, Striano, Pasquale, Al‐khawaja, Issam, Al‐mutairi, Fuad, Alkuraya, Fowzan, Sherifa, Hamed, Rizig, Mie, Okubadejo, Njideka, Ojo, Oluwadamilola, Oshinaike, Olajumoke, Wahab, Kolawole, Bello, Abiodun, Abubakar, Sanni, Obiabo, Yahaya, Nwazor, Ernest, Ekenze, Oluchi, Williams, Uduak, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Pchelina, Sofya, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Rossi, Salvatore, Silvestri, Gabriella, Bourinaris, Thomas, Xiromerisiou, Georgia, Fidani, Liana, Spanaki, Cleanthe, Tucci, Arianna

المساهمون: University College London Hospitals (UCLH), Université d'Ottawa Ontario (uOttawa), King‘s College London, University College of London London (UCL), University of Cyprus Nicosia (UCY), UCL Institute of Neurology, Queen Square London, Institute of Psychiatry, Psychology & Neuroscience, King's College London, National Yang Ming University (NYMU), Department of Information and Communications Engineering Murcia, Universidad de Murcia, Guy's Hospital London, Cyprus Institute of Neurology and Genetics, University of Ottawa Ottawa, The Ottawa Hospital, University of British Columbia (UBC), Laboratoire de biogenèse membranaire (LBM), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Ottawa Hospital Research Institute Ottawa (OHRI), Institute of Neurology, Queen Square, London, Sahlgrenska University Hospital, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, Department of Human Genetics, Ruhr University Bochum = Ruhr-Universität Bochum (RUB), Universitat de Barcelona (UB), Department of Medical and Surgical Pediatrics, University Hospital, Fondazione, Departments of Human Genetics & Neurology, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, University of Laquila, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Yale School of Medicine New Haven, Connecticut (YSM), Department of Microbiology, Università degli studi di Catania = University of Catania (Unict), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Gene Dx, Partenaires INRAE, Tel Aviv University (TAU), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Università degli studi di Genova = University of Genoa (UniGe), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, UCL Institute of neurology, UCL Institute of Neurology

المصدر: ISSN: 0364-5134.

مصطلحات موضوعية: Autosomal recessive axonal polyneuropathy, Adenosine triphosphate (ATP), PDXK mutations, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

العلاقة: hal-02747388; https://hal.umontpellier.fr/hal-02747388Test; PUBMEDCENTRAL: PMC6772106

الإتاحة: https://doi.org/10.1002/ana.25524Test
https://hal.umontpellier.fr/hal-02747388Test

المؤلفون: Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba‐Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Khorassani, Mohamed El, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda‐Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Rothman, James, Giunti, Paola, Salpietro, Vincenzo, Oconnor, Emer, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Hostettler, Isabel, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen‐Yang, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al‐Khawaja, Issam, Al‐Mutairi, Fuad, Alkuraya, Fowzan S, Sherifa, Hamed, Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Oshinaike, Olajumoke O., Wahab, Kolawole, Bello, Abiodun H., Abubakar, Sanni, Obiabo, Yahaya, Nwazor, Ernest, Ekenze, Oluchi, Williams, Uduak, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Pchelina, Sofya, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Rossi, Salvatore, Silvestri, Gabriella, Bourinaris, Thomas, Xiromerisiou, Georgia, Fidani, Liana, Spanaki, Cleanthe, Tucci, Arianna

المساهمون: University College London Hospitals (UCLH), Université d'Ottawa [Ontario] (uOttawa), King‘s College London, University College of London [London] (UCL), University of Cyprus [Nicosia], UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, Institute of Psychiatry, Psychology & Neuroscience, King's College London, National Yang Ming University (NYMU), Department of Information and Communications Engineering [Murcia], Universidad de Murcia, Guy's Hospital [London], Cyprus Institute of Neurology and Genetics, University of Ottawa [Ottawa], The Ottawa Hospital, University of British Columbia (UBC), Ottawa Hospital Research Institute [Ottawa] (OHRI), Institute of Neurology, Queen Square, London, Sahlgrenska University Hospital, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Department of Human Genetics, Ruhr University Bochum (RUB), Universitat de Barcelona (UB), Department of Medical and Surgical Pediatrics, University Hospital, Fondazione, Departments of Human Genetics & Neurology, Leiden University Medical Center (LUMC), University of Laquila, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Yale University School of Medicine, Department of Microbiology, Università degli studi di Catania [Catania], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gene Dx, Partenaires INRAE, Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Universita degli studi di Genova, Fondazione 'Policlinico Universitario A. Gemelli' [Rome], UCL Institute of neurology, UCL Institute of Neurology, Chelban V., Wilson M.P., Warman Chardon J., Vandrovcova J., Zanetti M.N., Zamba-Papanicolaou E., Efthymiou S., Pope S., Conte M.R., Abis G., Liu Y.-T., Tribollet E., Haridy N.A., Botia J.A., Ryten M., Nicolaou P., Minaidou A., Christodoulou K., Kernohan K.D., Eaton A., Osmond M., Ito Y., Bourque P., Jepson J.E.C., Bello O., Bremner F., Cordivari C., Reilly M.M., Foiani M., Heslegrave A., Zetterberg H., Heales S.J.R., Wood N.W., Rothman J.E., Boycott K.M., Mills P.B., Clayton P.T., Houlden H., Kriouile Y., Khorassani M.E., Aguennouz M., Groppa S., Marinova Karashova B., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., van den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Giunti P., Salpietro V., Oconnor E., Kullmann D., Kaiyrzhanov R., Sullivan R., Khan A.M., Yau W.Y., Hostettler I., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Torti E., Zollo M., Heimer G., Dauvilliers Y.A., Striano P., Al-Khawaja I., Al-Mutairi F., Alkuraya F.S., Sherifa H., Rizig M., Okubadejo N.U., Ojo O.O., Oshinaike O.O., Wahab K., Bello A.H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Oguntunde O., Pchelina S., Senkevich K., Haridy N., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Bourinaris T., Xiromerisiou G., Fidani L., Spanaki C., Tucci A.

المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2019, 86 (2), pp.225-240. ⟨10.1002/ana.25524⟩
Chelban, V, Wilson, M P, Warman Chardon, J, Vandrovcova, J, Zanetti, M N, Zamba-papanicolaou, E, Efthymiou, S, Pope, S, Conte, M R, Abis, G, Liu, Y, Tribollet, E, Haridy, N A, Botía, J A, Ryten, M, Nicolaou, P, Minaidou, A, Christodoulou, K, Kernohan, K D, Eaton, A, Osmond, M, Ito, Y, Bourque, P, Jepson, J E C, Bello, O, Bremner, F, Cordivari, C, Reilly, M M, Foiani, M, Heslegrave, A, Zetterberg, H, Heales, S J R, Wood, N W, Rothman, J E, Boycott, K M, Mills, P B, Clayton, P T & Houlden, H 2019, ' PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation ', Annals of Neurology, vol. 86, no. 2, pp. 225-240 . https://doi.org/10.1002/ana.25524Test
Annals of Neurology, 86(2), 225-240. WILEY

مصطلحات موضوعية: 0301 basic medicine, Male, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, LOCAL TRANSLATION, Medizin, medicine.disease_cause, DISEASE, chemistry.chemical_compound, 0302 clinical medicine, polineuropathy, Cinètica enzimàtica, Gene Regulatory Networks, Pyridoxal phosphate, Child, Pyridoxal Kinase, Adenosine triphosphate (ATP), Research Articles, Aged, 80 and over, Mutation, Gene Regulatory Network, PLASMA, Autosomal recessive axonal polyneuropathy, Disease gene identification, Pyridoxal kinase, 3. Good health, Settore MED/26 - NEUROLOGIA, Neuropaties perifèriques, Treatment Outcome, Polyneuropathie, Neurology, Child, Preschool, Pyridoxal Phosphate, RELIABILITY, Vitamin B Complex, Female, Life Sciences & Biomedicine, Polyneuropathy, Human, Research Article, Adult, Adolescent, PDXK, Clinical Neurology, CHARCOT-MARIE-TOOTH, CHARCOT-MARIE-TOOTH, CMT NEUROPATHY SCORE, LOCAL TRANSLATION, DISEASE, RELIABILITY, MECHANISMS, DISCOVERY, FRAMEWORK, KINASE, PLASMA, MECHANISMS, 03 medical and health sciences, Polyneuropathies, Atrophy, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], KINASE, medicine, Humans, CMT NEUROPATHY SCORE, PDXK mutations, Pyridoxal, Dietary Supplement, Aged, Peripheral neuropathies, Science & Technology, [SCCO.NEUR]Cognitive science/Neuroscience, Enzyme kinetics, Neurosciences, FRAMEWORK, medicine.disease, Molecular biology, 030104 developmental biology, chemistry, DISCOVERY, Dietary Supplements, Neurosciences & Neurology, Neurology (clinical), Adenosine triphosphate, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5115f8b7d8c97f9254f07395bee95127Test