المؤلفون: Romain Nicolle, Nami Altin, Karine Siquier-Pernet, Sherlina Salignac, Pierre Blanc, Arnold Munnich, Christine Bole-Feysot, Valérie Malan, Barthélémy Caron, Patrick Nitschké, Isabelle Desguerre, Nathalie Boddaert, Marlène Rio, Antonio Rausell, Vincent Cantagrel

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Pontocerebellar Hypoplasia, RARS2, Kozak, Non-coding variant, Bioinformatic predictions, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/171f70d6cf7543cf8446ba86ba7ec84bTest

المؤلفون: Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans vanBokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian

المصدر: Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1080-1089 (2022)

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

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/e325a36924f6490ca000078333d8a8e5Test

المؤلفون: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7Test

المؤلفون: Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/c86dc26738ec41afaa56ad56dca39196Test

المؤلفون: Daniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen, Michael Nicouleau, Joanna Lipecka, Jean-Charles Bizot, Christian Thiel, François Foulquier, Nathalie Lefort, Catherine Faivre-Sarrailh, Laurence Colleaux, Ida Chiara Guerrera, Vincent Cantagrel

المصدر: eLife, Vol 7 (2018)

مصطلحات موضوعية: N-glycosylation, congenital disorders of glycosylation, neuronal migration, cell adhesion, cerebellum, proteomics, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/38309Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/ab2be9c083ab4bdcb4c886395139debcTest

المؤلفون: Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sang Moon Lee, Yong Beom Shin, Jong Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik‐Schöneborn, Tim M. Strom

مصطلحات موضوعية: Regulation of RNA Processing and Function, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Ribosome Structure and Translation Mechanisms, Gene Therapy for Spinal Muscular Atrophy, Genetics, FOS Biological sciences, Medicine, Health Sciences, Survival Motor Neuron Protein, snRNP, Biology, Hypotonia, Ribonucleoprotein, Phenotype, Mutation, RNA-binding protein, Ataxia, Neurodevelopmental disorder, RNA splicing, Cell biology, Gene, Neuroscience, RNA

العلاقة: https://dx.doi.org/10.60692/4t2nt-zdz91Test

الإتاحة: https://doi.org/10.60692/mhgw6-1a97310.60692/4t2nt-zdz91Test

المؤلفون: Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Éric Bieth, Maha S. Zaki, Meral Topçu, Fatma Müjgan Sönmez, Damir Musaev, Valentina Stanley, Christine Bôle‐Feysot, Patrick Nitschké, Arnold Münnich, Nadia Bahi‐Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Bürglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

مصطلحات موضوعية: Copper and Zinc in Health and Disease, Nutrition and Dietetics, FOS Health sciences, Nursing, Health Sciences, Significance of Phytic Acid in Nutrition and Agriculture, Plant Science, Agricultural and Biological Sciences, Life Sciences, Regulation of Iron Metabolism and Anemia, Hematology, Medicine, myo-Inositol, Polyphosphate, Inositol, Intracellular, Inositol phosphate, Second messenger system, Cell biology, Biology, Biochemistry, Receptor, Phosphate

العلاقة: https://dx.doi.org/10.60692/73xqd-j6203Test

الإتاحة: https://doi.org/10.60692/7638x-szw7910.60692/73xqd-j6203Test

المؤلفون: Stephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B. Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A. Botia, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcova, SYNAPS Study Group, Laurence Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale De Lonlay, Vincent Cantagrel, Mhammed Aguennouz, Mohamed El Khorassani, Miriam Schmidts, Fowzan S. Alkuraya, Simon Edvardson, Maria Nolano, Je ́roˆme Devaux and Henry Houlden.

المساهمون: Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B., Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A., Provitera, Vincenzo, Schuelke, Marku, Vandrovcova, Jana, Study Group, Synap, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Ghayoor Karimiani, Ehsan, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, M'Hammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S., Edvardson, Simon, Nolano, Maria, Houlden., Je ́roˆme Devaux and Henry

مصطلحات موضوعية: neurofascin, neurodevelopment, peripheral demyelination

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31501903; info:eu-repo/semantics/altIdentifier/wos/WOS:000504322300013; volume:142; issue:10; firstpage:2948; lastpage:2964; numberofpages:17; journal:BRAIN; http://hdl.handle.net/11570/3144286Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072849162; https://iris.unime.it/bitstream/11570/3144286/7/3144286.pdfTest

الإتاحة: https://doi.org/10.1093/brain/awz248Test
http://hdl.handle.net/11570/3144286Test
https://iris.unime.it/bitstream/11570/3144286/7/3144286.pdfTest

المؤلفون: Hisham Megahed, Engy Ashaat, Samira Ismail, Neveen Ashaat, Vincent Cantagrel, Mona El Ruby

المصدر: Middle East Journal of Medical Genetics. 11:29-37

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::93ba6cb9fc1645a1b47b9e7be04bc2e7Test
https://doi.org/10.21608/mxe.2023.283880Test

المؤلفون: Marion Coolen, Nami Altin, Karthyayani Rajamani, Eva Pereira, Karine Siquier-Pernet, Emilia Puig Lombardi, Nadjeda Moreno, Giulia Barcia, Marianne Yvert, Annie Laquerrière, Aurore Pouliet, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Féréchté Razavi, Alexandra Afenjar, Thierry Billette de Villemeur, Almundher Al-Maawali, Khalid Al-Thihli, Julia Baptista, Ana Beleza-Meireles, Catherine Garel, Marine Legendre, Antoinette Gelot, Lydie Burglen, Sébastien Moutton, Vincent Cantagrel

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Great Ormond Street Institute of Child Health (UCL), University College of London [London] (UCL), Maison de Santé Protestante de Bordeaux-Bagatelle (MSPB), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), URC, hôpital Necker Enfants Maladies, Paris, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Sultan Qaboos University (SQU), Peninsula Medical School, University Hospitals Bristol, Hôpital des Enfants - Groupe hospitalier Pellegrin - CHU de Bordeaux, Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-16-CE12-0005,SCD-Mec,Mécanismes développementaux des anomalies structurelles cérébelleuses(2016)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2022, ⟨10.1016/j.ajhg.2022.03.010⟩
Am J Hum Genet

مصطلحات موضوعية: Brain Diseases, Developmental Disabilities, Neurogenesis, Histone-Lysine N-Methyltransferase, Nervous System Malformations, Article, Mice, Purkinje Cells, Cerebellum, Mutation, Genetics, Animals, Humans, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Genetics (clinical), Zebrafish, ComputingMilieux_MISCELLANEOUS, Brain Stem, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13d7a9db33865434b1804b62cde18c38Test
https://amu.hal.science/hal-03654319Test