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1دورية أكاديمية
المؤلفون: Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian
المصدر: EBioMedicine, Vol 107, Iss , Pp 105297- (2024)
مصطلحات موضوعية: NOTCH3, CADASIL, Leukoencephalopathy, Stroke, Neurodevelopmental disorders, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Theresa Kagermeier, Stefan Hauser, Kseniia Sarieva, Lucia Laugwitz, Samuel Groeschel, Wibke G. Janzarik, Zeynep Yentür, Katharina Becker, Ludger Schöls, Ingeborg Krägeloh-Mann, Simone Mayer
المصدر: Disease Models & Mechanisms, Vol 17, Iss 7 (2024)
مصطلحات موضوعية: organoid, pch2a, apoptosis, cerebellum, differentiation, rare disease, Medicine, Pathology, RB1-214
وصف الملف: electronic resource
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3دورية أكاديميةVitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
المؤلفون: Sabrina Ehnert, Stefan Hauser, Holger Hengel, Philip Höflinger, Rebecca Schüle, Tobias Lindig, Jonathan Baets, Tine Deconinck, Peter de Jonghe, Tina Histing, Andreas K. Nüssler, Ludger Schöls, Tim W. Rattay
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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4دورية أكاديمية
المؤلفون: Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Rare neurological diseases, Optimal care, Interdisciplinary management, Healthcare settings, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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5دورية أكاديمية
المؤلفون: Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Leukodystrophy, Metachromatic, Hematopoietic stem cell transplantation, Rare diseases, Europe, Healthcare disparities, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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6دورية أكاديمية
المؤلفون: Mafalda Raposo, Jeannette Hübener-Schmid, Rebecca Tagett, Ana F. Ferreira, Ana Rosa Vieira Melo, João Vasconcelos, Paula Pires, Teresa Kay, Hector Garcia-Moreno, Paola Giunti, Magda M. Santana, Luis Pereira de Almeida, Jon Infante, Bart P. van de Warrenburg, Jeroen J. de Vries, Jennifer Faber, Thomas Klockgether, Nicolas Casadei, Jakob Admard, Ludger Schöls, Olaf Riess, Maria do Carmo Costa, Manuela Lima
المصدر: Neurobiology of Disease, Vol 193, Iss , Pp 106456- (2024)
مصطلحات موضوعية: Ataxin-3, polyQ diseases, Neurodegenerative disease, RNA-seq, mRNA, Alternative splicing, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Luca Porcu, Mario Fichera, Lorenzo Nanetti, Eliana Rulli, Paola Giunti, Michael H. Parkinson, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Elisabetta Indelicato, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera, Ludger Schöls, Zofia Fleszar, Ilaria Giordano, Claire Didszun, Anna Castaldo, Myriam Rai, Thomas Klockgether, Massimo Pandolfo, Jörg B. Schulz, Kathrin Reetz, Caterina Mariotti, for the EFACTS Study Group
المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 2000-2012 (2023)
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
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8دورية أكاديمية
المؤلفون: Federico Zilio, Javier Gomez-Pilar, Ujwal Chaudhary, Stuart Fogel, Tatiana Fomina, Matthis Synofzik, Ludger Schöls, Shumei Cao, Jun Zhang, Zirui Huang, Niels Birbaumer, Georg Northoff
المصدر: Communications Biology, Vol 6, Iss 1, Pp 1-19 (2023)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2399-3642
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9دورية أكاديميةDysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia
المؤلفون: Christian Lassmann, Winfried Ilg, Tim W. Rattay, Ludger Schöls, Martin Giese, Daniel F. B. Haeufle
المصدر: Journal of NeuroEngineering and Rehabilitation, Vol 20, Iss 1, Pp 1-19 (2023)
مصطلحات موضوعية: Gait simulation, Spasticity, Hyperreflexia, Prodromal, SPG4, HSP, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1743-0003
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10دورية أكاديمية
المؤلفون: Rajech Sharkia, Abdelnaser Zalan, Amit Kessel, Wasif Al-Shareef, Hazar Zahalka, Holger Hengel, Ludger Schöls, Abdussalam Azem, Muhammad Mahajnah
المصدر: Genes, Vol 15, Iss 6, p 791 (2024)
مصطلحات موضوعية: SCAPER, intellectual disability, retinitis pigmentosa, Arab society in Israel, Genetics, QH426-470
وصف الملف: electronic resource