المؤلفون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren, Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan, Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia, Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair, Pennavaria, Ajia, Krogstad, Liv, Bekkelund, Åse, Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten, Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra, Lochmuller, Hanns, Daas, Sahar, Fakhro, Khalid, Gómez-Pascual, Alicia, Botía, Juan, Wood, Nicholas, Horvath, Rita, Ernst, Andreas, Rothman, James, McEntagart, Meriel, Crow, Yanick, Alkuraya, Fowzan, Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

المصدر: Nature Communications. 15(1)

مصطلحات موضوعية: Humans, Acetylation, Brain, Brain Diseases, Inheritance Patterns, Mutation, Phosphates, Sodium-Phosphate Cotransporter Proteins, Type III

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8hc1r6m8
https://escholarship.org/content/qt8hc1r6m8/qt8hc1r6m8.pdf

المؤلفون: Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian GEL, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, PY Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Ghayoor Karimiani, Ehsan, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza

مصطلحات موضوعية: Pediatric, Neurosciences, Genetics, Neurodegenerative, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Rare Diseases, Human Genome, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/77b7h8nj

المؤلفون: Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal, Cabrol, Christelle, Cilio, Maria, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette

المصدر: European Journal of Human Genetics. 31(9)

مصطلحات موضوعية: Humans, Nuclear Proteins, Epilepsy, Phenotype, Genotype, Genetic Association Studies, Neurodegenerative Diseases, Atrophy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/49z8f5t8
https://escholarship.org/content/qt49z8f5t8/qt49z8f5t8.pdf

المؤلفون: Carapancea, Evelina, Cornet, Marie-Coralie, Milh, Mathieu, De Cosmo, Lucrezia, Huang, Eric J, Granata, Tiziana, Striano, Pasquale, Ceulemans, Berten, Stein, Anja, Morris-Rosendahl, Deborah, Conti, Greta, Mitra, Nipa, Raymond, F Lucy, Rowitch, David H, Solazzi, Roberta, Vercellino, Fabiana, De Liso, Paola, D'Onofrio, Gianluca, Boniver, Clementina, Danhaive, Olivier, Carkeek, Katherine, Salpietro, Vincenzo, Weckhuysen, Sarah, Fedrigo, Marny, Angelini, Annalisa, Castellotti, Barbara, Lederer, Damien, Benoit, Valerie, Raviglione, Federico, Guerrini, Renzo, Dilena, Robertino, Cilio, Maria Roberta

المصدر: Neurology. 100(12)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Neurosciences, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Clinical Research, Brain Disorders, Neurodegenerative, Infant Mortality, Neurological, Humans, Myoclonus, Apnea, Hyperekplexia, Bradycardia, Brain Diseases, Seizures, Phenotype, Muscle Hypertonia, Nuclear Proteins, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3hd6497d

المؤلفون: Salpietro, Vincenzo, Deforie, Valentina Galassi, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Group, SYNAPS Study, Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, PY Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope

المصدر: Epilepsia. 64(2)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Pediatric, Neurodegenerative, Genetics, Biotechnology, Brain Disorders, Epilepsy, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Mutation, Neurodevelopmental Disorders, Seizures, Kv1.6 Potassium Channel, K(V)1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing, SYNAPS Study Group, KV1 Shaker channel family, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0q22f2xm

المؤلفون: Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Parra, Karen Vargas, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Group, SYNaPS Study, Genomics, University of Washington Center for Mendelian, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M, Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

المصدر: American Journal of Human Genetics. 108(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Neurosciences, Neurodegenerative, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Animals, Ataxia, Cells, Cultured, Child, Cohort Studies, DNA Mutational Analysis, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblasts, Hearing Loss, Humans, Ketoglutarate Dehydrogenase Complex, Male, Mutation, Neurodevelopmental Disorders, RNA Splicing, Vision Disorders, SYNaPS Study Group, University of Washington Center for Mendelian Genomics, CRISPR-Cas9 gene editing, DEE, Drosophila, OGDHL, bi-allelic, developmental and epileptic encephalopathy, exome sequencing, mitochondria, neurodevelopmental disease, α-ketoglutarate, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6480d7nc

المؤلفون: Scorrano, Giovanna, Lattanzi, Simona, Salpietro, Vincenzo, Giannini, Cosimo, Chiarelli, Francesco, Matricardi, Sara

المساهمون: Scorrano, Giovanna, Lattanzi, Simona, Salpietro, Vincenzo, Giannini, Cosimo, Chiarelli, Francesco, Matricardi, Sara

مصطلحات موضوعية: behaviour, cognitive functioning, epilepsy, neurodevelopmental disorder, perampanel

Relation: info:eu-repo/semantics/altIdentifier/pmid/38256507; info:eu-repo/semantics/altIdentifier/wos/WOS:001151226500001; volume:13; issue:2; numberofpages:17; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11566/327294; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85183134161

الاتاحة: https://hdl.handle.net/11566/327294
https://doi.org/10.3390/jcm13020372

المؤلفون: Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary JH, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita

المصدر: Brain. 144(5)

مصطلحات موضوعية: Neurosciences, Neurodegenerative, Genetics, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Female, Humans, Male, Mice, Mutation, Oxygenases, Pedigree, Rats, Spastic Paraplegia, Hereditary, Zebrafish, hereditary spastic paraplegia, HSP, autosomal recessive, mitochondrial disorder, HPDL, Genomics England Research Consortium, PREPARE network, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3zq3c14v

المؤلفون: Cetica, Valentina, Pisano, Tiziana, Lesca, Gaetan, Marafi, Dana, Licchetta, Laura, Riccardi, Florence, Mei, Davide, Chung, Hon‐yin, B, Bayat, Allan, Balasubramanian, Meena, Lowenstein, Daniel, H, Endzinienė, Milda, Alotaibi, Maha, Villeneuve, Nathalie, Jacobs, Julia, Isidor, Bertrand, Solazzi, Roberta, den Hollander, Nicolette, S, Marjanovic, Dragan, Rougeot‐jung, Christelle, Jung, Julien, Lesieur‐sebellin, Marion, Accogli, Andrea, Salpietro, Vincenzo, Saadi, Nebal, W, Panagiotakaki, Eleni, Foiadelli, Thomas, Redon, Sylvia, Tsai, Meng‐han, Bisulli, Francesca, Hammer, Trine, B, Lupski, James, R, Parrini, Elena, Guerrini, Renzo

المساهمون: Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)

المصدر: ISSN: 0013-9580.

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

الاتاحة: https://hal.science/hal-04668694
https://hal.science/hal-04668694v1/document
https://hal.science/hal-04668694v1/file/Epilepsia%20-%202024%20-%20Cetica%20-%20Clinical%20and%20molecular%20characterization%20of%20patients%20with%20YWHAG%E2%80%90related%20epilepsy.pdf
https://doi.org/10.1111/epi.17939

المؤلفون: Mameli, Chiara, Smylie, Giulia Marie, Marigliano, Marco, Zagaroli, Luca, Mancioppi, Valentina, Maffeis, Claudio, Salpietro, Vincenzo, Zuccotti, Gianvincenzo, Delvecchio, Maurizio

المصدر: Diabetes Therapy ; volume 15, issue 10, page 2151-2151 ; ISSN 1869-6953 1869-6961

الاتاحة: https://doi.org/10.1007/s13300-024-01636-0
https://link.springer.com/content/pdf/10.1007/s13300-024-01636-0.pdf
https://link.springer.com/article/10.1007/s13300-024-01636-0/fulltext.html

المؤلفون: Dell’Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, Fruttini, Daniela, Salpietro, Vincenzo, Striano, Pasquale, Verrotti, Alberto

المصدر: Journal of Neurology ; volume 271, issue 12, page 7648-7649 ; ISSN 0340-5354 1432-1459

الاتاحة: https://doi.org/10.1007/s00415-024-12653-1
https://link.springer.com/content/pdf/10.1007/s00415-024-12653-1.pdf
https://link.springer.com/article/10.1007/s00415-024-12653-1/fulltext.html

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, Alvarez, Ignacio Delgado, 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: Radiology and Imaging Sciences, School of Medicine

المصدر: PMC

مصطلحات موضوعية: GPI, Congenital disorders of glycosylation, Developmental delay, Epilepsy, Neurodevelopmental disorder, Neuroimaging

وصف الملف: application/pdf

Relation: Brain; https://hdl.handle.net/1805/43870

الاتاحة: https://hdl.handle.net/1805/43870

المؤلفون: Mohammadi, Nazanin Azarinejad, Ahring, Philip Kiær, Yu Liao, Vivian Wan, Chua, Han Chow, Ortiz de la Rosa, Sebastián, Johannesen, Katrine Marie, Michaeli-Yossef, Yael, Vincent-Devulder, Aline, Meridda, Catherine, Bruel, Ange-Line, Rossi, Alessandra, Patel, Chirag, Klepper, Joerg, Bonanni, Paolo, Minghetti, Sara, Trivisano, Marina, Specchio, Nicola, Amor, David, Auvin, Stéphane, Baer, Sarah, Meyer, Pierre, Milh, Mathieu, Salpietro, Vincenzo, Maroofian, Reza, Lemke, Johannes, Weckhuysen, Sarah, Christophersen, Palle, Rubboli, Guido, Chebib, Mary, Jensen, Anders, Absalom, Nathan, Møller, Rikke Steensbjerre

المساهمون: Hôpital Côte de Nacre CHU Caen, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Les Hôpitaux Universitaires de Strasbourg (HUS), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Hôpital de la Timone CHU - APHM (TIMONE), This work was funded by the Australian National Health & Medical Research Council, the Novo Nordisk Foundation and The Lundbeck Foundation.

المصدر: ISSN: 2352-3964 ; EBioMedicine ; https://hal.science/hal-04647292 ; EBioMedicine, 2024, 106, pp.105236. ⟨10.1016/j.ebiom.2024.105236⟩.

مصطلحات موضوعية: GABAA receptors, Gain-of-function, Epilepsy, Seizures, Dystonia, Movement disorders, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04647292
https://hal.science/hal-04647292v1/document
https://hal.science/hal-04647292v1/file/2024%20Mohammadi%20et%20al.,%20Distinct%20neurodevelopmental.pdf
https://doi.org/10.1016/j.ebiom.2024.105236

المؤلفون: Mameli, Chiara, Smylie, Giulia Marie, Marigliano, Marco, Zagaroli, Luca, Mancioppi, Valentina, Maffeis, Claudio, Salpietro, Vincenzo, Zuccotti, Gianvincenzo, Delvecchio, Maurizio

المساهمون: C. Mameli, G.M. Smylie, M. Marigliano, L. Zagaroli, V. Mancioppi, C. Maffei, V. Salpietro, G. Zuccotti, M. Delvecchio

مصطلحات موضوعية: Advanced hybrid closed loop, Automated insulin delivery, Control-IQ technology, Fear of hypoglycemia, Physical activity, Quality of life, Sleeping quality, Tandem t:slim X2, Type 1 diabetes, Settore MEDS-20/A - Pediatria generale e specialistica

Relation: info:eu-repo/semantics/altIdentifier/pmid/39008237; info:eu-repo/semantics/altIdentifier/wos/WOS:001272526300002; volume:15; issue:10; firstpage:2133; lastpage:2149; numberofpages:17; journal:DIABETES THERAPY; https://hdl.handle.net/2434/1118069

الاتاحة: https://hdl.handle.net/2434/1118069
https://doi.org/10.1007/s13300-024-01618-2

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

Relation: https://dspace.library.uu.nl/handle/1874/438070

الاتاحة: https://dspace.library.uu.nl/handle/1874/438070

المؤلفون: Iacomino, Michele, Houerbi, Nadia, Fortuna, Sara, Howe, Jennifer, Li, Shan, Scorrano, Giovanna, Riva, Antonella, Cheng, Kai-Wen, Steiman, Mandy, Peltekova, Iskra, Yusuf, Afiqah, Baldassari, Simona, Tamburro, Serena, Scudieri, Paolo, Musante, Ilaria, Di Ludovico, Armando, Guerrisi, Sara, Balagura, Ganna, Corsello, Antonio, Efthymiou, Stephanie, Murphy, David, Uva, Paolo, Verrotti, Alberto, Fiorillo, Chiara, Delvecchio, Maurizio, Accogli, Andrea, Elsabbagh, Mayada, Houlden, Henry, Scherer, Stephen W, Striano, Pasquale, Zara, Federico, Chou, Tsui-Fen, Salpietro, Vincenzo

المصدر: Frontiers in Molecular Neuroscience , 17 , Article 1268013. (2024)

مصطلحات موضوعية: PLAA gene, de novo variants, neurodevelopmental disorders, synaptic transmission, SNAREopathies, developmental regression

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10191939/1/fnmol-17-1268013.pdf; https://discovery.ucl.ac.uk/id/eprint/10191939/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10191939/1/fnmol-17-1268013.pdf
https://discovery.ucl.ac.uk/id/eprint/10191939/

المؤلفون: Efthymiou, Stephanie, Han, Wenyan, Ilyas, Muhammad, Li, Jun, Yu, Yichao, Scala, Marcello, Malintan, Nancy T, Vavouraki, Nikoleta, Mankad, Kshitij, Maroofian, Reza, Rocca, Clarissa, Salpietro, Vincenzo, Lakhani, Shenela, Mallack, Eric J, Palculict, Timothy Blake, Li, Hong, Zhang, Guojun, Zafar, Faisal, Rana, Nuzhat, Takashima, Noriko, Matsunaga, Hayato, Manzoni, Claudia, Striano, Pasquale, Lythgoe, Mark F, Aruga, Jun, Lu, Wei, Houlden, Henry

المصدر: Frontiers in Molecular Neuroscience , 17 , Article 1222935. (2024)

مصطلحات موضوعية: GABAergic synapse development, NGS - next generation sequencing, SLITRK3, epilepsy, global developmental delay, inhibitory synaptic transmission

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10189540/1/fnmol-17-1222935.pdf; https://discovery.ucl.ac.uk/id/eprint/10189540/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10189540/1/fnmol-17-1222935.pdf
https://discovery.ucl.ac.uk/id/eprint/10189540/

المؤلفون: Sultan, Tipu, Scorrano, Giovanna, Panciroli, Marta, Christoforou, Marilena, Raza Alvi, Javeria, Di Ludovico, Armando, Qureshi, Sameen, Efthymiou, Stephanie, Salpietro, Vincenzo, Houlden, Henry

المصدر: Gene , 899 , Article 148119. (2024)

مصطلحات موضوعية: Chorea, Epilepsy, Mitochondria function, Movement disorders, Neurodevelopmental disorders, Vacuolar protein sorting 13, VSP13D

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10186023/1/Efthymiou_VPS13D%20draft%20Sep_23_VS.pdf; https://discovery.ucl.ac.uk/id/eprint/10186023/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186023/1/Efthymiou_VPS13D%20draft%20Sep_23_VS.pdf
https://discovery.ucl.ac.uk/id/eprint/10186023/

المؤلفون: Accogli, Andrea, Shakya, Saurabh, Yang, Taewoo, Insinna, Christine, Kim, Soo Yeon, Bell, David, Butov, Kirill R, Severino, Mariasavina, Niceta, Marcello, Scala, Marcello, Lee, Hyun Sik, Yoo, Taekyeong, Stauffer, Jimmy, Zhao, Huijie, Fiorillo, Chiara, Pedemonte, Marina, Diana, Maria C, Baldassari, Simona, Zakharova, Viktoria, Shcherbina, Anna, Rodina, Yulia, Fagerberg, Christina, Roos, Laura Sønderberg, Wierzba, Jolanta, Dobosz, Artur, Gerard, Amanda, Potocki, Lorraine, Rosenfeld, Jill A, Lalani, Seema R, Scott, Tiana M, Scott, Daryl, Azamian, Mahshid S, Louie, Raymond, Moore, Hannah W, Champaigne, Neena L, Hollingsworth, Grace, Torella, Annalaura, Nigro, Vincenzo, Ploski, Rafal, Salpietro, Vincenzo, Zara, Federico, Pizzi, Simone, Chillemi, Giovanni, Ognibene, Marzia, Cooney, Erin, Do, Jenny, Linnemann, Anders, Larsen, Martin J, Specht, Suzanne, Walters, Kylie J, Choi, Hee-Jung, Choi, Murim, Tartaglia, Marco, Youkharibache, Phillippe, Chae, Jong-Hee, Capra, Valeria, Park, Sung-Gyoo, Westlake, Christopher J

المصدر: Accogli , A , Shakya , S , Yang , T , Insinna , C , Kim , S Y , Bell , D , Butov , K R , Severino , M , Niceta , M , Scala , M , Lee , H S , Yoo , T , Stauffer , J , Zhao , H , Fiorillo , C , Pedemonte , M , Diana , M C , Baldassari , S , Zakharova , V , Shcherbina , A , Rodina , Y , Fagerberg , C , Roos , L S , Wierzba , ....

مصطلحات موضوعية: Humans, Male, Animals, WD40 Repeats, Zebrafish/genetics, Cognition, Brain, Ciliopathies/genetics

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/50fc8ec8-531a-41d8-afff-9a39563c660c
https://doi.org/10.1038/s41467-023-44611-2
https://findresearcher.sdu.dk/ws/files/253737829/s41467-023-44611-2.pdf

المؤلفون: Kaiyrzhanov, Rauan, Ortigoza‐Escobar, Juan Darío, Stringer, Brett W., Ganieva, Manizha, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Macaya, Alfons, Laner, Andreas, Onbool, Enas, Al‐Shammari, Randa, Al‐Owain, Mohammed, Deconinck, Nicolas, Vilain, Catheline, Dontaine, Pauline, Self, Eleanor, Akram, Rabia, Hussain, Ghulam, Baig, Shahid Mahmood, Iqbal, Javed, Salpietro, Vincenzo, Neshatdoust, Maedeh, Kasiri, Mahboubeh, Yesil, Gozde, Uygur, Turkan, Pysden, Karen, Berry, Ian R., Alves, Cesar Augusto, Giacomotto, Jean, Houlden, Henry, Maroofian, Reza

المساهمون: Medical Research Council

المصدر: Movement Disorders ; volume 39, issue 6, page 983-995 ; ISSN 0885-3185 1531-8257

الاتاحة: https://doi.org/10.1002/mds.29754