المؤلفون: Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5

المؤلفون: Chai, Guoliang, Szenker-Ravi, Emmanuelle, Chung, Changuk, Li, Zhen, Wang, Lu, Khatoo, Muznah, Marshall, Trevor, Jiang, Nan, Yang, Xiaoxu, McEvoy-Venneri, Jennifer, Stanley, Valentina, Anzenberg, Paula, Lang, Nhi, Wazny, Vanessa, Yu, Jia, Virshup, David M, Nygaard, Rie, Mancia, Filippo, Merdzanic, Rijad, Toralles, Maria BP, Pitanga, Paula ML, Puri, Ratna D, Hernan, Rebecca, Chung, Wendy K, Bertoli-Avella, Aida M, Al-Sannaa, Nouriya, Zaki, Maha S, Willert, Karl, Reversade, Bruno, Gleeson, Joseph G

المصدر: New England Journal of Medicine. 385(14)

مصطلحات موضوعية: Biotechnology, Rare Diseases, Genetics, Human Genome, Brain Disorders, Pediatric Research Initiative, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Animals, Congenital Abnormalities, Disease Models, Animal, Fibroblasts, Gene Knock-In Techniques, Genes, Recessive, Genetic Pleiotropy, Humans, Intracellular Signaling Peptides and Proteins, Mice, Mice, Transgenic, Mutation, Pedigree, Phenotype, Receptors, G-Protein-Coupled, Syndrome, Wnt Proteins, Wnt Signaling Pathway, Medical and Health Sciences, General & Internal Medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/61r0j65q

المؤلفون: Molitor, A. (Anne), Lederle, A. (Alexandre), Radosavljevic, M. (Mirjana), Sapuru, V. (Vinay), Zavorka Thomas, Megan E., Yang, J. (Jianying), Shirin, M. (Mahsa), Collin-bund, V. (Virginie), Jerabkova-Roda, K. (Katerina), Miao, Z. (Zhichao), Bernard, A. (Alice), Rolli, V. (Veronique), Grenot, P. (Pierre), Castro, C. (Carla Noemi), Rosenzwajg, M. (Michelle), Lewis, Elyssa G., Person, R. (Richard), Esperón-Moldes, U. (Uxía-Saraiva), Kaare, M. (Milja), Nokelainen, Pekka T., Batzir, N. (Nurit Assia), Hoffer, G. (Gal Zaks), Paul, N. (Nicodème), Stemmelen, T. (Tristan), Naegely, L. (Lydie), Hanauer, A. (Antoine), Bibi-triki, S. (Sabrina), Grün, S. (Sarah), Jung, S. (Sophie), Busnelli, I. (Ignacio), Tripolszki, K. (Kornelia), Al-Ali, R. (Ruslan), Ordonez, N. (Natalia), Bauer, P. (Peter), Song, E. (Eunkyung), Zajo, K. (Kristin), Partida-Sanchez, S. (Santiago), Robledo-Avila, F. (Frank), Kumanovics, A. (Attila), Louzoun, Y. (Yoram), Hirschler, A. (Aurélie), Pichot, A. (Angelique), Toker, O. (Ori), Mejía, C. (Cesar Andrés Muñoz), Parvaneh, N. (Nima), Knapp, E. (Esther), Hersh, Joseph H., Kenney, H. (Heather), Delmonte, Ottavia M., Notarangelo, Luigi D., Goetz, J. (Jacky), Kahwash, Samir B., Carapito, C. (Christine), Bajwa, Rajinder P. S., Thomas, C. (Caroline), Ehl, S. (Stephan), Isidor, B. (Bertrand), Carapito, R. (Raphaël), Abraham, Roshini S., Hite, Richard K., Marcus, N. (Nufar), Bertoli-Avella, A. (Aida), Bahram, S. (Seiamak)

مصطلحات موضوعية: Aucun

الاتاحة: https://www.science.org/doi/10.1126/sciadv.ado5545

المؤلفون: Kaiyrzhanov R, Rad A, Lin S-J, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schoneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortum F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenco CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R

المصدر: Brain, 4 April 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/298053; https://eprints.ncl.ac.uk/fulltext.aspx?url=298053/0D025C43-2E4A-457E-8060-419EA8753223.pdf&pub_id=298053

الاتاحة: https://eprints.ncl.ac.uk/298053

المؤلفون: Sabine Rösner, Luba M. Pardo, Aida M. Bertoli-Avella, Volha Skrahina, Pierre Engel, Sabine Schröder, Susan Zielske, Valerie Bonke, Janett Kreth, Gina Westphal, Felix Reder, Snezana Skobalj, Susanne Zielke, Xenia Bogdanovic, Paula Grieger, Jörg Rennecke, Thomas Skripuletz, Monica Patten, Birgit Aßmus, Katrin Hahn, Arndt Rolfs, Peter Bauer

المصدر: Journal of Clinical Medicine ; Volume 13 ; Issue 20 ; Pages: 6197

مصطلحات موضوعية: hATTR amyloidosis, Hereditary Transthyretin-Related Amyloidosis, TTR

وصف الملف: application/pdf

Relation: Epidemiology & Public Health; https://dx.doi.org/10.3390/jcm13206197

الاتاحة: https://doi.org/10.3390/jcm13206197

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: Salpietro V., Maroofian R., Zaki M. S., Wangen J., Ciolfi A., Barresi S., Efthymiou S., Lamaze A., Aughey G. N., Al Mutairi F., Rad A., Rocca C., Cali E., Accogli A., Zara F., Striano P., Mojarrad M., Tariq H., Giacopuzzi E., Taylor J. C., Oprea G., Skrahina V., Rehman K. U., Abd Elmaksoud M., Bassiony M., El Said H. G., Abdel-Hamid M. S., Al Shalan M., Seo G., Kim S., Lee H., Khang R., Issa M. Y., Elbendary H. M., Rafat K., Marinakis N. M., Traeger-Synodinos J., Ververi A., Sourmpi M., Eslahi A., Khadivi Zand F., Beiraghi Toosi M., Babaei M., Jackson A., Hannah M. G., Bugiardini E., Bertini E., Kriouile Y., El-Khorassani M., Aguennouz M., Groppa S., Karashova B. M., Goraya J. S., Sultan T., Avdjieva D., Kathom H., Tincheva R., Banu S., Veggiotti P., Verrotti A., Lanari M., Savasta S., Macaya A., Garavaglia B., Borgione E., Papacostas S., Vikelis M., Chelban V., Kaiyrzhanov R., Cortese A., Sullivan R., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Zuccotti G. V., Marseglia G. L., Esposito S., Shaikh F., Cogo P., Corsello G., Mangano S., Nardello R., Mangano D., Scardamaglia A., Koutsis G., Scuderi C., Ferrara P., Morello G., Zollo M., Berni-Canani R., Terracciano L. M., Sisto A., Di Fabio S., Strano F., Scorrano G., Di Bella S., Di Francesco L., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Xiromerisiou G., Spanaki C., Fiorillo C., Iacomino M., Gaudio E., Munell F., Gagliano A., Jan F., Chimenz R., Gitto E., Iughetti L., Di Rosa G., Maghnie M., Pettoello-Mantovani M., Gupta N., Kabra M., Benrhouma H., Tazir M., Bottone G., Farello G., Delvecchio M., Di-Donato G., Obeid M., Bakhtadze S., Saadi N. W., Miraglia-Del-Giudice M., Maccarone R., Triki C. C., Kara M., Karimiani E. G., Salih A. M., Ramenghi L. A., Seri M., Di-Falco G., Mandara L., Barrano G., Elisa M., Cherubini E., Operto F. F., Valenzise M., Cattaneo A., Zazzeroni F., Alesse E., Matricardi S., Zafar F., Ullah E., Afzal E., Rahman F., Ahmed M. M., Parisi P., Spalice A., De Filippo M., Licari A., Trebbi E., Romano F., Heimer G., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Rizig M., Shashkin C., Zharkynbekova N., Koneyev K., Bertoli-Avella A., Pagnamenta A. T., Niceta M., Battini R., Corsello A., Leoni C., Chiarelli F., Dallapiccola B., Faqeih E. A., Tallur K. K., Alfadhel M., Alobeid E., Maddirevula S., Mankad K., Banka S., Ghayoor-Karimiani E., Tartaglia M., Chung W. K., Green R., Jepson J. E. C., Houlden H.

المساهمون: Salpietro, V., Maroofian, R., Zaki, M. S., Wangen, J., Ciolfi, A., Barresi, S., Efthymiou, S., Lamaze, A., Aughey, G. N., Al Mutairi, F., Rad, A., Rocca, C., Cali, E., Accogli, A., Zara, F., Striano, P., Mojarrad, M., Tariq, H., Giacopuzzi, E., Taylor, J. C., Oprea, G., Skrahina, V., Rehman, K. U., Abd Elmaksoud, M., Bassiony, M., El Said, H. G., Abdel-Hamid, M. S., Al Shalan, M., Seo, G., Kim, S., Lee, H., Khang, R., Issa, M. Y., Elbendary, H. M., Rafat, K., Marinakis, N. M., Traeger-Synodinos, J., Ververi, A., Sourmpi, M., Eslahi, A., Khadivi Zand, F., Beiraghi Toosi, M., Babaei, M., Jackson, A., Hannah, M. G., Bugiardini, E., Bertini, E., Kriouile, Y., El-Khorassani, M., Aguennouz, M., Groppa, S., Karashova, B. M., Goraya, J. S., Sultan, T., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Veggiotti, P., Verrotti, A., Lanari, M., Savasta, S., Macaya, A., Garavaglia, B., Borgione, E., Papacostas, S., Vikelis, M., Chelban, V., Kaiyrzhanov, R., Cortese, A., Sullivan, R., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Zuccotti, G. V., Marseglia, G. L., Esposito, S., Shaikh, F., Cogo, P., Corsello, G., Mangano, S., Nardello, R., Mangano, D., Scardamaglia, A., Koutsis, G., Scuderi, C., Ferrara, P., Morello, G., Zollo, M., Berni-Canani, R., Terracciano, L. M., Sisto, A., Di Fabio, S., Strano, F., Scorrano, G.

مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies

Relation: info:eu-repo/semantics/altIdentifier/pmid/38118446; volume:111; issue:1; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1700551; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163

الاتاحة: https://hdl.handle.net/11573/1700551
https://doi.org/10.1016/j.ajhg.2023.11.012

المؤلفون: Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: autosomal recessive, copy number variant, ELOVL4, neuro‐ichthyosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/c1b6f0f9da914f4fab255230f81999df

المؤلفون: Alsubeeh, Najlaa A., Almuqbil, Mohammed A., Davies, William, Bertoli-Avella, Aida, Anikar, Swathi, Zonic, Emir, Eyaid, Wafaa M.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/171536/1/Alsubeeh%20et%20al.%202024%20Am%20J%20Med%20Genet%20A%20postprint.pdf; Alsubeeh, Najlaa A., Almuqbil, Mohammed A., Davies, William https://orca.cardiff.ac.uk/view/cardiffauthors/A1031683.html orcid:0000-0002-7714-2440 orcid:0000-0002-7714-2440, Bertoli-Avella, Aida, Anikar, Swathi, Zonic, Emir and Eyaid, Wafaa M. 2025. CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia. The American Journal of Medical Genetics - Part A 197 (1) , e63784. 10.1002/ajmg.a.63784 https://doi.org/10.1002/ajmg.a.63784 Item availability restricted. file

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/171536/
https://doi.org/10.1002/ajmg.a.63784
https://orca.cardiff.ac.uk/id/eprint/171536/1/Alsubeeh%20et%20al.%202024%20Am%20J%20Med%20Genet%20A%20postprint.pdf

المؤلفون: Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz

المصدر: JCI Insight, Vol 8, Iss 22 (2023)

مصطلحات موضوعية: Genetics, Oncology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/c2f7dbb684e54ea28e6d06a849f00507

المؤلفون: Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth A. Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh, Paria Najarzadeh Torbati, Suliman Khan, Emmanuel Roze, Andres Moreno‐De‐Luca, Aida M. Bertoli‐Avella, Henry Houlden, Tamas Balla, Reza Maroofian

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 9, Pp 1345-1358 (2022)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/e661a9bb4241478abb777acab28ee5c0

المؤلفون: Le Voyer, Tom, Neehus, Anna-Lena, Yang, Rui, Ogishi, Masato, Rosain, Jérémie, Alroqi, Fayhan, Alshalan, Maha, Blumental, Sophie, Ali, Fatima Al, Khan, Taushif, Ata, Manar, Rozen, Laurence, Demulder, Anne, Bastard, Paul, Gruber, Conor, Roynard, Manon, Seeleuthener, Yoann, Rapaport, Franck, Bigio, Benedetta, Chrabieh, Maya, Sng, Danielle, Berteloot, Laureline, Boddaert, Nathalie, Rozenberg, Flore, Al-Muhsen, Saleh, Bertoli-Avella, Aida, Abel, Laurent, Bogunovic, Dusan, Marr, Nico, Mansouri, Davood, Mutairi, Fuad Al, Béziat, Vivien, Weil, Dominique, Mahdaviani, Seyed Alireza, Ferster, Alina, Zhang, Shen-Ying, Reversade, Bruno, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Apr . 118(15), 1-12.

URL الوصول: https://www.jstor.org/stable/27040132

المؤلفون: Emir Zonic, Mariana Ferreira, Luba M. Pardo, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Natalia Ordonez-Herrera, Deepa Saravanakumar, Ligia S. Almeida, Inês C. Fernandes, Nishtha Gulati, Sumanth Mannepalli, Amela Hercegovac, Ruslan Al-Ali, Catarina Pereira, Omid Paknia, Uros Hladnik, Peter Bauer, Jorge Pinto Basto, Aida M. Bertoli-Avella

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100833- (2023)

مصطلحات موضوعية: Gene classification, Gene curation, Gene-disease association, Gene-disease relationship, Gene-validity, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423008427; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/5646c2cad13543d692abf4b0e83ef3f2

المؤلفون: Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C.Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius Ionuț, Fischer, Steffen, Steinicke, Tara Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, Bertoli-Avella, Aida

المصدر: Guatibonza Moreno , P , Pardo , L M , Pereira , C , Schroeder , S , Vagiri , D , Almeida , L S , Juaristi , C , Hosny , H , Loh , C C Y , Leubauer , A , Torres Morales , G , Oppermann , S , Iurașcu , M I , Fischer , S , Steinicke , T M , Viceconte , N , Cozma , C , Kandaswamy , K K , Pinto Basto , J , Böttcher , T , Bauer , P & Bertoli-Avella , A 2023 , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/a4cfbcf2-a658-446a-9bba-7ae9661d5ddd
https://doi.org/10.1038/s41431-023-01408-7
https://pure.eur.nl/ws/files/117079480/s41431-023-01408-7.pdf
http://www.scopus.com/inward/record.url?scp=85164530112&partnerID=8YFLogxK

المؤلفون: Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A, van der Linde, Herma C, Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T, Ruijter, George J G, Lütjohann, Dieter, Jacobs, Edwin H, Houlden, Henry, Pagnamenta, Alistair T, Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M, Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H, van Ham, Tjakko J, Issa, Mahmoud, Zaki, Maha S, Gleeson, Joseph G, Willemsen, Rob, Kaya, Namik, Arold, Stefan T, Maroofian, Reza, Sanderson, Leslie E, Barakat, Tahsin Stefan

المصدر: Deng , R , Medico-Salsench , E , Nikoncuk , A , Ramakrishnan , R , Lanko , K , Kühn , N A , van der Linde , H C , Lor-Zade , S , Albuainain , F , Shi , Y , Yousefi , S , Capo , I , van den Herik , E M , van Slegtenhorst , M , van Minkelen , R , Geeven , G , Mulder , M T , Ruijter , G J G , Lütjohann , D , Jacobs , E H , Houlden , H , Pagnamenta , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/ebca86dc-197a-4176-9980-f0f2e6ce374a
https://doi.org/10.1007/s00401-023-02579-9
https://pure.eur.nl/ws/files/90563148/AMFR_dysfunction_causes_autosomal_recessive_spastic_paraplegia_in_human_that_is_amenable_to_statin_treatment_in_a_preclinical_model.pdf
http://www.scopus.com/inward/record.url?scp=85153927213&partnerID=8YFLogxK

المؤلفون: Smits, Daphne J., Dekker, Jordy, Schot, Rachel, Tabarki, Brahim, Alhashem, Amal, Demmers, Jeroen A.A., Dekkers, Dick H.W., Romito, Antonio, van der Spek, Peter J., van Ham, Tjakko J., Bertoli-Avella, Aida M., Mancini, Grazia M.S., Verrijzer, Peter

المصدر: Smits , D J , Dekker , J , Schot , R , Tabarki , B , Alhashem , A , Demmers , J A A , Dekkers , D H W , Romito , A , van der Spek , P J , van Ham , T J , Bertoli-Avella , A M , Mancini , G M S & Verrijzer , P 2023 , ' CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment ' , Human Genetics , vol. 142 , no. 3 , pp. 379-397 . https://doi.org/10.1007/s00439-022-02511-3

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/63d3e3ee-9cbe-4efb-b4c8-a8ec644931dc
https://doi.org/10.1007/s00439-022-02511-3
https://pure.eur.nl/ws/files/80183149/CLEC16A_interacts_with_retromer_and_TRIM27_and_its_loss_impairs_endosomal_trafficking_and_neurodevelopment.pdf
http://www.scopus.com/inward/record.url?scp=85144435617&partnerID=8YFLogxK

المؤلفون: Smits, Daphne J., Schot, Rachel, Popescu, Cristiana A., Dias, Kerith Rae, Ades, Lesley, Briere, Lauren C., Sweetser, David A., Kushima, Itaru, Aleksic, Branko, Khan, Suliman, Karageorgou, Vasiliki, Ordonez, Natalia, Sleutels, Frank J.G.T., van der Kaay, Daniëlle C.M., Van Mol, Christine, Van Esch, Hilde, Bertoli-Avella, Aida M., Roscioli, Tony, Mancini, Grazia M.S.

المصدر: Smits , D J , Schot , R , Popescu , C A , Dias , K R , Ades , L , Briere , L C , Sweetser , D A , Kushima , I , Aleksic , B , Khan , S , Karageorgou , V , Ordonez , N , Sleutels , F J G T , van der Kaay , D C M , Van Mol , C , Van Esch , H , Bertoli-Avella , A M , Roscioli , T & Mancini , G M S 2023 , ' De novo MCM6 variants ....

وصف الملف: application/pdf

Relation: https://pure.eur.nl/en/publications/220db0c7-1003-4526-92a9-b2595caa0114

الاتاحة: https://pure.eur.nl/en/publications/220db0c7-1003-4526-92a9-b2595caa0114
https://doi.org/10.1007/s00439-023-02569-7
https://pure.eur.nl/ws/files/93341681/De_novo_MCM6_variants_in_neurodevelopmental_disorders.pdf
http://www.scopus.com/inward/record.url?scp=85159674657&partnerID=8YFLogxK

المؤلفون: Rahikkala, E. (Elisa), Julku, J. (Johanna), Koskinen, S. (Sari), Keski-Filppula, T. (Tommi), Weissgraeber, S. (Stephanie), Bertoli-Avella, A. M. (Aida M.), Häkli, S. (Sanna), Kraatari-Tiri, M. (Minna)

مصطلحات موضوعية: Disease genetics, Genetic predisposition to disease

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe2023052648398

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdf; https://discovery.ucl.ac.uk/id/eprint/10181376/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdf
https://discovery.ucl.ac.uk/id/eprint/10181376/

المؤلفون: Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, NA, van der Linde, HC, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, EM, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, MT, Ruijter, GJG, Lütjohann, D, Jacobs, EH, Houlden, H, Pagnamenta, AT, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, TB, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, AM, Bauer, P, Bouman, A, Hoefsloot, LH, van Ham, TJ, Issa, M, Zaki, MS, Gleeson, JG, Willemsen, R, Kaya, N, Arold, ST, Maroofian, R, Sanderson, LE, Barakat, TS

المصدر: Acta Neuropathologica (2023) (In press).

مصطلحات موضوعية: AMFR, Cholesterol metabolism, Genetics, Hereditary spastic paraplegia, Neurology, Precision medicine, Statin, Whole genome sequencing, Zebrafish disease modeling

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdf; https://discovery.ucl.ac.uk/id/eprint/10169693/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdf
https://discovery.ucl.ac.uk/id/eprint/10169693/