المؤلفون: Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

المساهمون: Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics

مصطلحات موضوعية: ACBD6, N-myristoylation, ataxia, dystonia, neurodegeneration, parkinsonism

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/438070Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/438070Test

المؤلفون: Sidpra, Jai, Sudhakar, Sniya, Biswas, Asthik, Massey, Flavia, Turchetti, Valentina, Lau, Tracy, Cook, Edward, Alvi, Javeria Raza, Elbendary, Hasnaa M, Jewell, Jerry L, Riva, Antonella, Orsini, Alessandro, Vignoli, Aglaia, Federico, Zara, Rosenblum, Jessica, Schoonjans, An-Sofie, de Wachter, Matthias, Delgado Alvarez, Ignacio, Felipe-Rucián, Ana, Haridy, Nourelhoda A, Haider, Shahzad, Zaman, Mashaya, Banu, Selina, Anwaar, Najwa, Rahman, Fatima, Maqbool, Shazia, Yadav, Rashmi, Salpietro, Vincenzo, Maroofian, Reza, Patel, Rajan, Radhakrishnan, Rupa, Prabhu, Sanjay P, Lichtenbelt, Klaske, Stewart, Helen, Murakami, Yoshiko, Löbel, Ulrike, D'Arco, Felice, Wakeling, Emma, Jones, Wendy, Hay, Eleanor, Bhate, Sanjay, Jacques, Thomas S, Mirsky, David M, Whitehead, Matthew T, Zaki, Maha S, Sultan, Tipu, Striano, Pasquale, Jansen, Anna C, Lequin, Maarten, de Vries, Linda S, Severino, Mariasavina, Edmondson, Andrew C, Menzies, Lara, Campeau, Philippe M, Houlden, Henry, McTague, Amy, Efthymiou, Stephanie, Mankad, Kshitij

المساهمون: J. Sidpra, S. Sudhakar, A. Biswa, F. Massey, V. Turchetti, T. Lau, E. Cook, J.R. Alvi, H.M. Elbendary, J.L. Jewell, A. Riva, A. Orsini, A. Vignoli, Z. Federico, J. Rosenblum, A. Schoonjan, M. de Wachter, I. Delgado Alvarez, A. Felipe-Rucián, N.A. Haridy, S. Haider, M. Zaman, S. Banu, N. Anwaar, F. Rahman, S. Maqbool, R. Yadav, V. Salpietro, R. Maroofian, R. Patel, R. Radhakrishnan, S.P. Prabhu, K. Lichtenbelt, H. Stewart, Y. Murakami, U. Löbel, F. D'Arco, E. Wakeling, W. Jone, E. Hay, S. Bhate, T.S. Jacque, D.M. Mirsky, M.T. Whitehead, M.S. Zaki, T. Sultan, P. Striano, A.C. Jansen, M. Lequin, L.S. de Vrie, M. Severino, A.C. Edmondson, L. Menzie, P.M. Campeau, H. Houlden, A. Mctague, S. Efthymiou, K. Mankad

مصطلحات موضوعية: GPI, congenital disorders of glycosylation, developmental delay, epilepsy, neurodevelopmental disorder, neuroimaging, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38456468; firstpage:1; lastpage:46; numberofpages:46; journal:BRAIN; https://hdl.handle.net/2434/1040506Test

الإتاحة: https://doi.org/10.1093/brain/awae056Test
https://hdl.handle.net/2434/1040506Test

المؤلفون: Sonia, Sheikh Farjana, Zaman, Mashaya, Mahmood, Ehsan, Hassan, Mohammad Sayeed, Banu, Selina Husna

المصدر: Journal of National Institute of Neurosciences Bangladesh; Vol. 9 No. 2 (2023); 151-156 ; 2518-6612 ; 2410-8030

مصطلحات موضوعية: Congenital dermal sinus, Tethered cord syndrome

الوقت: Bangladesh

وصف الملف: application/pdf

العلاقة: https://www.banglajol.info/index.php/JNINB/article/view/65396/47861Test; https://www.banglajol.info/index.php/JNINB/article/view/65396Test

الإتاحة: https://www.banglajol.info/index.php/JNINB/article/view/65396Test

المؤلفون: Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

المصدر: Brain (2023) (In press).

مصطلحات موضوعية: ACBD6, neudegeneration, dystonia, ataxia, parkinsonism, N-myristoylation

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181376Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181376Test/

المؤلفون: Klöckner, Chiara, Murray, J Pedro Fernandez, Tavasoli, Mahtab, Sticht, Heinrich, Stoltenburg-Didinger, Gisela, Scholle, Leila Motlagh, Bakhtiari, Somayeh, Kruer, Michael C, Darvish, Hossein, Firouzabadi, Saghar Ghasemi, Pagnozzi, Alex, Shukla, Anju, Girisha, Katta Mohan, Narayanan, Dhanya Lakshmi, Kaur, Parneet, Maroofian, Reza, Zaki, Maha S, Noureldeen, Mahmoud M, Merkenschlager, Andreas, Gburek-Augustat, Janina, Cali, Elisa, Banu, Selina, Nahar, Kamrun, Efthymiou, Stephanie, Houlden, Henry, Jamra, Rami Abou, Williams, Jason, McMaster, Christopher R, Platzer, Konrad

المصدر: Brain , 145 (6) pp. 1916-1923. (2022)

مصطلحات موضوعية: Kennedy pathway, choline kinase alpha, epilepsy, exome sequencing, neurodevelopmental disorder

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10144526/1/awac074.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10144526Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10144526/1/awac074.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10144526Test/

المؤلفون: Afroze, Farhana, Haque, Munimul, Banu, Selina Husna, Alam, Rafiul

المصدر: Journal of Enam Medical College; Vol. 10 No. 3 (2020); 143-152 ; 2304-9316 ; 2227-6688

مصطلحات موضوعية: Cognitive deficits, Behavioral problems, Maternal employment

الوقت: Bangladesh

وصف الملف: application/pdf

العلاقة: https://www.banglajol.info/index.php/JEMC/article/view/59355/41075Test; https://www.banglajol.info/index.php/JEMC/article/view/59355Test

الإتاحة: https://www.banglajol.info/index.php/JEMC/article/view/59355Test

المؤلفون: Banu, Selina Husna

مصطلحات موضوعية: 618.92853

الإتاحة: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.409336Test

المؤلفون: Weerts, Marjolein J.A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A.L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, Willemsen, Marjolein, Gilissen, Christian, Barakat, Tahsin Stefan

المصدر: Weerts , M J A , Lanko , K , Genomics England Research Consortium , Guzmán-Vega , F J , Jackson , A , Ramakrishnan , R , Cardona-Londoño , K J , Peña-Guerra , K A , van Bever , Y , van Paassen , B W , Kievit , A , van Slegtenhorst , M , Allen , N M , Kehoe , C M , Robinson , H K , Pang , L , Banu , S H , Zaman , M , Efthymiou , S , Houlden , H , Järvelä , I , Lauronen ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41436-021-01246-2Test
https://pure.eur.nl/en/publications/4ff553b5-9d22-4872-b9f5-68d1b29f9dd5Test
https://pure.eur.nl/ws/files/43469843/Delineating_the_molecular_and_phenotypic_spectrum_of_the_SETD1B_related_syndrome.pdfTest
http://www.scopus.com/inward/record.url?scp=85112668367&partnerID=8YFLogxKTest

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: 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, Mercede, Munell, Francina, Macaya, Alfon, Boles, Richard, Heimer, Gali, Papacostas, Savva, 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.

مصطلحات موضوعية: autism, epilepsy, movement disorders, neurodevelopmental disorders, neuronal exocytosis, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion, Genetics, Genetics (clinical)

وصف الملف: STAMPA

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/11570/3138980Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737; https://www.cell.com/ajhg/fulltext/S0002-9297Test(19)30061-8

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/11570/3138980Test
https://www.cell.com/ajhg/fulltext/S0002-9297Test(19)30061-8

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