-
1دورية أكاديمية
المؤلفون: Neuray C., Maroofian R., Scala M., Sultan T., Pai G. S., Mojarrad M., Khashab H. E., deHoll L., Yue W., Alsaif H. S., Zanetti M. N., Bello O., Person R., Eslahi A., Khazaei Z., Feizabadi M. H., Efthymiou S., Marseglia G. L., Savasta S., El-Bassyouni H. T., Soliman D. R., Tekes S., Ozer L., Baltaci V., Khan S., Beetz C., Amr K. S., Salpietro V., Jamshidi Y., Alkuraya F. S., Houlden H.
المساهمون: Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., Marseglia, G. L., Savasta, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H.
مصطلحات موضوعية: GAD1, Epilepsy, Neurodevelopmental delay, Muscle weakne, Cleft palate
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32705143; info:eu-repo/semantics/altIdentifier/wos/WOS:000825023900016; volume:143; issue:8; firstpage:2388; lastpage:2397; numberofpages:10; journal:BRAIN; http://hdl.handle.net/11584/344601Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090075296
-
2دورية أكاديمية
المؤلفون: Salpietro V., Dixon C. L., Guo H., Bello O. D., Vandrovcova J., Efthymiou S., Maroofian R., Heimer G., Burglen L., Valence S., Torti E., Hacke M., Rankin J., Tariq H., Colin E., Procaccio V., Striano P., Mankad K., Lieb A., Chen S., Pisani L., Bettencourt C., Mannikko R., Manole A., Brusco A., Grosso E., Ferrero G. B., Armstrong-Moron J., Gueden S., Bar-Yosef O., Tzadok M., Monaghan K. G., Santiago-Sim T., Person R. E., Cho M. T., Willaert R., Yoo Y., Chae J. -H., Quan Y., Wu H., Wang T., Bernier R. A., Xia K., Blesson A., Jain M., Motazacker M. M., Jaeger B., Schneider A. L., Boysen K., Muir A. M., Myers C. T., Gavrilova R. H., Gunderson L., Schultz-Rogers L., Klee E. W., Dyment D., Osmond M., Parellada M., Llorente C., Gonzalez-Penas J., Carracedo A., Van Haeringen A., Ruivenkamp C., Nava C., Heron D., Nardello R., Iacomino M., Minetti C., Skabar A., Fabretto A., Hanna M. G., Bugiardini E., Hostettler I., O'Callaghan B., Khan A., Cortese A., O'Connor E., Yau W. Y., Bourinaris T., Kaiyrzhanov R., Chelban V., Madej M., Diana M. C., Vari M. S., Pedemonte M., Bruno C., Balagura G., Scala M., Fiorillo C., Nobili L., Malintan N. T., Zanetti M. N., Krishnakumar S. S., Lignani G., Jepson J. E. C., Broda P., Baldassari S., Rossi P., Fruscione F., Madia F., Traverso M., De-Marco P., Perez-Duenas B., Munell F., Kriouile Y., El-Khorassani M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van-Maldergem L., Nachbauer W., Boesch S., Gagliano A., Amadori E., Goraya J. S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Zuccotti G. V., Ferrari M. D., Van Den Maagdenberg A. M. J., Verrotti A., Marseglia G. L., Savasta S., Soler M. A., Scuderi C., Borgione E., Chimenz R., Gitto E., Dipasquale V., Sallemi A., Fusco M., Cuppari C., Cutrupi M. C., Ruggieri M., Cama A., Capra V., Mencacci N. E., Boles R., Gupta N., Kabra M., Papacostas S., Zamba-Papanicolaou E., Dardiotis E., Maqbool S., Rana N., Atawneh O., Lim S. Y., Shaikh F., Koutsis G., Breza M., Coviello D. A., Dauvilliers Y. A., AlKhawaja I., AlKhawaja M., Al-Mutairi F., Stojkovic T., Ferrucci V., Zollo M., Alkuraya F. S., Kinali M., Sherifa H., Benrhouma H., Turki I. B. Y., Tazir M., Obeid M., Bakhtadze S., Saadi N. W., Zaki M. S., Triki C. C., Benfenati F., Gustincich S., Kara M., Belcastro V., Specchio N., Capovilla G., Karimiani E. G., Salih A. M., Okubadejo N. U., Ojo O. O., Oshinaike O. O., Oguntunde O., Wahab K., Bello A. H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Senkevich K., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Haridy N., Ramenghi L. A., Xiromerisiou G., David E., Aguennouz M., Fidani L., Spanaki C., Tucci A., Raspall-Chaure M., Chez M., Tsai A., Fassi E., Shinawi M., Constantino J. N., De Zorzi R., Fortuna S., Kok F., Keren B., Bonneau D., Choi M., Benzeev B., Zara F., Mefford H. C., Scheffer I. E., Clayton-Smith J., Macaya A., Rothman J. E., Eichler E. E., Kullmann D. M., Houlden H.
المساهمون: Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A., Chen, S., Pisani, L., Bettencourt, C., Mannikko, R., Manole, A., Brusco, A., Grosso, E., Ferrero, G. B., Armstrong-Moron, J., Gueden, S., Bar-Yosef, O., Tzadok, M., Monaghan, K. G., Santiago-Sim, T., Person, R. E., Cho, M. T., Willaert, R., Yoo, Y., Chae, J. -H., Quan, Y., Wu, H., Wang, T., Bernier, R. A., Xia, K., Blesson, A., Jain, M., Motazacker, M. M., Jaeger, B., Schneider, A. L., Boysen, K., Muir, A. M., Myers, C. T., Gavrilova, R. H., Gunderson, L., Schultz-Rogers, L., Klee, E. W., Dyment, D., Osmond, M., Parellada, M., Llorente, C., Gonzalez-Penas, J., Carracedo, A., Van Haeringen, A., Ruivenkamp, C., Nava, C., Heron, D., Nardello, R., Iacomino, M., Minetti, C., Skabar, A., Fabretto, A., Hanna, M. G., Bugiardini, E., Hostettler, I., O'Callaghan, B., Khan, A., Cortese, A., O'Connor, E., Yau, W. Y., Bourinaris, T., Kaiyrzhanov, R., Chelban, V., Madej, M., Diana, M. C., Vari, M. S., Pedemonte, M., Bruno, C., Balagura, G., Scala, M., Fiorillo, C., Nobili, L., Malintan, N. T., Zanetti, M. N., Krishnakumar, S. S., Lignani, G., Jepson, J. E. C., Broda, P., Baldassari, S., Rossi, P., Fruscione, F., Madia, F.
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; issue:1; firstpage:3094; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11390/1243137Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068965744
-
3دورية أكاديمية
المؤلفون: Salpietro V., Malintan N. T., Llano-Rivas I., Spaeth C. G., Efthymiou S., Striano P., Vandrovcova J., Cutrupi M. C., Chimenz R., David E., Di Rosa G., Marce-Grau A., Raspall-Chaure M., Martin-Hernandez E., Zara F., Minetti C., Kriouile Y., El Khorassani M., Aguennouz M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Pironti E., Goraya J. S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G. L., Savasta S., Garavaglia B., Scuderi C., Borgione E., Dipasquale V., Portaro S., Sanchez B. M., Pineda-Marfa M., Munell F., Macaya A., Boles R., Heimer G., Papacostas S., Manole A., Malintan N., Zanetti M. N., Hanna M. G., Rothman J. E., Kullmann D. M., Houlden H., Bello O. D., De Zorzi R., Fortuna S., Dauber A., Alkhawaja M., Mankad K., Vitobello A., Thomas Q., Mau-Them F. T., Faivre L., Martinez-Azorin F., Prada C. E., Krishnakumar S. S.
المساهمون: Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Pironti, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G. L., Savasta, S., Garavaglia, B., Scuderi, C., Borgione, E., Dipasquale, V., Portaro, S., Sanchez, B. M., Pineda-Marfa, M., Munell, F., Macaya, A., Boles, R., Heimer, G., Papacostas, S., Manole, A., Malintan, N., Zanetti, M. N., Hanna, M. G., Rothman, J. E., Kullmann, D. M., Houlden, H., Bello, O. D., De Zorzi, R., Fortuna, S., Dauber, A., Alkhawaja, M., Mankad, K., Vitobello, A., Thomas, Q., Mau-Them, F. T., Faivre, L., Martinez-Azorin, F., Prada, C. E., Krishnakumar, S. S.
مصطلحات موضوعية: autism, epilepsy, movement disorder, neurodevelopmental disorder, neuronal exocytosi, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion
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; info:eu-repo/grantAgreement/EC/FP7/2012-305121; http://hdl.handle.net/11368/2945858Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/11368/2945858Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest -
4دورية أكاديمية
المؤلفون: 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.
المساهمون: 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.
مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Dietary Supplement, Female, Gene Regulatory Network, Human, Male, Mutation, Polyneuropathie, Pyridoxal Kinase, Pyridoxal Phosphate, Treatment Outcome, Vitamin B Complex
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31187503; info:eu-repo/semantics/altIdentifier/wos/WOS:000473919500001; volume:86; issue:2; firstpage:225; lastpage:240; numberofpages:16; journal:ANNALS OF NEUROLOGY; https://hdl.handle.net/11584/349343Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068354982
-
5
المؤلفون: Neuray, C., Maroofian, R., Scala, M., Sultan, T., Pai, G. S., Mojarrad, M., Khashab, H. E., Deholl, L., Yue, W., Alsaif, H. S., Zanetti, M. N., Bello, O., Person, R., Eslahi, A., Khazaei, Z., Feizabadi, M. H., Efthymiou, S., El-Bassyouni, H. T., Soliman, D. R., Tekes, S., Ozer, L., Baltaci, V., Khan, S., Beetz, C., Amr, K. S., Salpietro, V., Jamshidi, Y., Alkuraya, F. S., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Synaps, Group, Di Rosa, G., Aguennouz, M., Goraya, J. S., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., 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., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Striano, P., Al-Khawaja, I., Al-Mutairi, F., Sherifa, H.
المساهمون: Neuray C., Maroofian R., Scala M., Sultan T., Pai G.S., Mojarrad M., Khashab H.E., deHoll L., Yue W., Alsaif H.S., Zanetti M.N., Bello O., Person R., Eslahi A., Khazaei Z., Feizabadi M.H., Efthymiou S., El-Bassyouni H.T., Soliman D.R., Tekes S., Ozer L., Baltaci V., Khan S., Beetz C., Amr K.S., Salpietro V., Jamshidi Y., Alkuraya F.S., Houlden H., Mangano S., Dicle Üniversitesi, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı, Tekeş, Selahattin, University College of London [London] (UCL), Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), University of Genoa (UNIGE), IRCCS Istituto Giannina Gaslini [Genoa, Italy], Children's Hospital [Lahore], Institute of Child Health [Lahore], Medical University of South Carolina [Charleston] (MUSC), Mashhad University of Medical Sciences, Ain Shams University (ASU), University of Oxford [Oxford], GeneDx [Gaithersburg, MD, USA], Khorasan Razavi Agricultural and Natural Resources Research and Education Center, National Research Centre [Cairo, Egypt], Benha University (BU), Dicle University, CENTOGENE AG, University of London [London], King Faisal Specialist Hospital [Riyadh, Saudi Arabia] (Research Centre), SYNaPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimi Zollo, Gali Heimer, Yves A Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Brain
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (8), pp.2388-2397. ⟨10.1093/brain/awaa178⟩
Publonsمصطلحات موضوعية: Male, 0301 basic medicine, Glutamate decarboxylase, Malalties cerebrals, Neurotransmissors, Neurodevelopmental delay, Epilepsy, 0302 clinical medicine, MESH: Child, Age of Onset, Child, cleft palate, GAD1, AcademicSubjects/SCI01870, Glutamate Decarboxylase, Glutamate receptor, Muscle weakness, purl.org/becyt/ford/3.1 [https], Neurotransmitters, MESH: Infant, Hypotonia, muscle weakne, Cleft palate, MESH: Epilepsy, Child, Preschool, Muscle Hypotonia, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], purl.org/becyt/ford/3 [https], Female, Brain diseases, Abnormalities, medicine.symptom, Multiple, medicine.drug, epilepsy, muscle weakness, neurodevelopmental delay, MESH: Glutamate Decarboxylase, medicine.medical_specialty, MESH: Abnormalities, Multiple, MESH: Mutation, MESH: Age of Onset, Biology, Inhibitory postsynaptic potential, GAD1, cleft palate, epilepsy, muscle weakness, neurodevelopmental delay, gamma-Aminobutyric acid, 03 medical and health sciences, Excitatory synapse, Internal medicine, medicine, Humans, Abnormalities, Multiple, Preschool, Alleles, MESH: Neurodevelopmental Disorders, MESH: Humans, MESH: Muscle Hypotonia, MESH: Alleles, MESH: Child, Preschool, Infant, medicine.disease, MESH: Male, Epilèpsia, Editor's Choice, 030104 developmental biology, Endocrinology, Neurodevelopmental Disorders, Mutation, AcademicSubjects/MED00310, Neurology (clinical), MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Reports
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55108cc53157474a74f1616404044b9dTest
http://hdl.handle.net/11567/1022383Test -
6دورية أكاديمية
المؤلفون: Coleman J., Jouannot O., Ramakrishnan S. K., Zanetti M. N., Wang J., Salpietro V., Houlden H., Rothman J. E., Krishnakumar S. S.
المساهمون: Coleman, J., Jouannot, O., Ramakrishnan, S. K., Zanetti, M. N., Wang, J., Salpietro, V., Houlden, H., Rothman, J. E., Krishnakumar, S. S.
مصطلحات موضوعية: neurotransmitter release, paroxysmal dyskinesia, PRRT2, SNARE protein, synaptic fusion, Animal, Human, Membrane Fusion, Membrane Protein, Mutation, Nerve Tissue Protein, PC12 Cell, Presynaptic Terminal, Rat, Synaptic Transmission
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29346777; info:eu-repo/semantics/altIdentifier/wos/WOS:000423449400021; volume:22; firstpage:820; lastpage:831; numberofpages:12; journal:CELL REPORTS; http://hdl.handle.net/11567/969539Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041687190
-
7دورية أكاديمية
المؤلفون: Silvestri G.
المساهمون: 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., 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.
مصطلحات موضوعية: polineuropathy, PDXK, Settore MED/26 - NEUROLOGIA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31187503; info:eu-repo/semantics/altIdentifier/wos/WOS:000473919500001; volume:86; issue:2; firstpage:225; lastpage:240; numberofpages:16; issueyear:2019; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/10807/166572Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068354982
-
8
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, Bello, Oscar D, De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E, Macaya, Alfons, Kullmann, Dimitri M, Rothman, James E, Krishnakumar, Shyam S, Houlden, Henry, 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, 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, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G, Houlden, Henry.
المساهمون: Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Pironti, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G. L., Savasta, S., Garavaglia, B., Scuderi, C., Borgione, E., Dipasquale, V., Portaro, S., Sanchez, B. M., Pineda-Marfa, M., Munell, F., Macaya, A., Boles, R., Heimer, G., Papacostas, S., Manole, A., Malintan, N., Zanetti, M. N., Hanna, M. G., Rothman, J. E., Kullmann, D. M., Houlden, H., Bello, O. D., De Zorzi, R., Fortuna, S., Dauber, A., Alkhawaja, M., Mankad, K., Vitobello, A., Thomas, Q., Mau-Them, F. T., Faivre, L., Martinez-Azorin, F., Prada, C. E., Krishnakumar, S. S.
المصدر: American Journal of Human Genetics
مصطلحات موضوعية: Male, Heterozygote, Adolescent, Vesicle-Associated Membrane Protein 2, neuronal exocytosi, synaptopathy, autism, synaptobrevin, Membrane Fusion, Exocytosis, R-SNARE Proteins, Protein Domains, Report, Intellectual Disability, Genetics, Humans, Autistic Disorder, Child, Genetics (clinical), Neurons, Neurotransmitter Agents, neurodevelopmental disorders, vesicle fusion, Brain, epilepsy, movement disorders, neuronal exocytosis, SNARE, VAMP2, Lipids, Magnetic Resonance Imaging, neurodevelopmental disorder, autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical), Phenotype, Child, Preschool, Mutation, Synapses, Muscle Hypotonia, Female, sense organs, movement disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::16e847325e2274e0b21469ce2adde331Test
http://hdl.handle.net/11368/2945858Test