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1دورية 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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2دورية 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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3دورية 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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4دورية 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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5
المؤلفون: Bruno Law-Ye, Nadya Pyatigorskaya, Fausto Viader, Roseline Froissart, Raili Raininko, Antonio Federico, Seung H. Kim, Louis Cousyn, Kiyotaka Nakamagoe, Monique Piraud, Cornelia Laule, Alfonso Cerase, Xavier Ayrignac, Robert Henderson, Simona Salvatore, Delphine Leclercq, Hiroshi Adachi, Yuwei Da, Karol Jastrzębski, Maria Carmo Macário, Sandra Sirrs, João Durães, Rabab Debs, Ludger Schols, Yann Nadjar, Bertrand Audoin, Roberta La Piana
المساهمون: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Biochimie et Biologie Moléculaire Grand Est Unité Médicale Pathologies Métaboliques, Erythrocytaires et Dépistage Périnatal, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Bron, Laboratoire de Biologie Tissulaire et d'ingénierie Thérapeutique UMR 5305 (LBTI), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Siena = University of Siena (UNISI), Neuroradiology Unit, Azienda Ospedaliera Universitaria Senese, Siena, Department of Neurology, Coimbra Hospital and University Centre, Department of Neurology, College of Medicine, Hanyang University, Seoul, Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center, Hyogo, Department of Neurology, La Timone Hospital, Aix-Marseille University, Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Exploration Métabolique par Résonance Magnétique [Hôpital de la Timone - APHM] (CEMEREM), Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre de résonance magnétique biologique et médicale (CRMBM), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS), Department of Neurology, University Hospital of Montpellier, Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, Department of Neurology, Royal Brisbane Hospital, Brisbane, Laboratory of Neurogenetics of Motion and Department of Neuroradiology, Montréal Neurological Institute and Hospital, McGill University, Montréal, University of British Columbia (UBC), International Collaboration on Repair Discoveries (ICORD), University of British Columbia, Vancouver, Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Ibaraki, Uppsala University, Department of Neurology and Hertie-Institute for Clinical Brain Research, Eberhard-Karls-University, German Center of Neurodegenerative Diseases (DZNE), Tübingen, Department of Neurology, Caen-Normandie University Hospital, Caen, Inserm U1077, EPHE, Caen-Normandie University, Caen, Department of Neurology and Stroke, Medical University of Lodz
المصدر: Neurology
Neurology, 2019, 93 (7), pp.e647-e652. ⟨10.1212/WNL.0000000000007943⟩
Neurology 93(7), e647-e652 (2019). doi:10.1212/WNL.0000000000007943مصطلحات موضوعية: Male, 0301 basic medicine, Internal capsule, pathology [Pyramidal Tracts], Pyramidal Tracts, 030105 genetics & heredity, Corpus callosum, Corpus Callosum, methods [Magnetic Resonance Imaging], 0302 clinical medicine, Internal Capsule, pathology [White Matter], Age of Onset, Child, Brain, Middle Aged, Magnetic Resonance Imaging, White Matter, pathology [Corpus Callosum], pathology [Internal Capsule], Female, pathology [Leukodystrophy, Globoid Cell], Radiology, Adult, medicine.medical_specialty, Adolescent, diagnostic imaging [Leukodystrophy, Globoid Cell], Young Adult, 03 medical and health sciences, Corona radiata, medicine, Humans, ddc:610, diagnostic imaging [Brain], Aged, business.industry, Leukodystrophy, Precentral gyrus, medicine.disease, Hyperintensity, Leukodystrophy, Globoid Cell, Corticospinal tract, Krabbe disease, Neurology (clinical), pathology [Demyelinating Diseases], business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery, Demyelinating Diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::532b8fb1a9d42ce9e3758c5b41e810e2
https://doi.org/10.1212/wnl.0000000000007943 -
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