المؤلفون: Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)

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/e200e6208cf9442cbf0392820af77732

المؤلفون: Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Vogt, Daniela Zöller, Günther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgartner, Isabell Cordts, Astrid Eisenkölbl, Marina Flotats-Bastardas, Johannes Friese, René Günther, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jörg Jahnel, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Annette Schwerin-Nagel, Christof Reihle, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Regina Trollmann, Markus Weiler, Claudia Weiß, Gert Wiegand, Ekkehard Wilichowski, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, SMArtCARE study group

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Spinal muscular atrophy, Nusinersen, Sitter, Later-onset, SMArtCARE, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3964177cf3a34839a500c56ee8c3ca92

المؤلفون: Sarah Isabel Krieg, Ingeborg Krägeloh-Mann, Samuel Groeschel, Stefanie Beck-Wödl, Ralf A. Husain, Ludger Schöls, Christiane Kehrer

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-17 (2020)

مصطلحات موضوعية: Krabbe disease, Globoid cell leukodystrophy, GALC deficiency, Natural disease course, MRI pattern, Pattern recognition, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01489-3; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/e189111cbc8140d9aa1744a847b61cce

المؤلفون: Kristin Ludwig, Ralf A. Husain, Ignacio Rubio

المصدر: Frontiers in Immunology, Vol 11 (2020)

مصطلحات موضوعية: mTORC1, endotoxin tolerance, monocytes, macrophage, sepsis, immune suppression, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2020.01515/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/12d67611e59d47118d65c4fe2083d0f4

المؤلفون: Jet van der Spek, Joery den Hoed, Lot Snijders Blok, Alexander J.M. Dingemans, Dick Schijven, Christoffer Nellaker, Hanka Venselaar, Galuh D.N. Astuti, Tahsin Stefan Barakat, E. Martina Bebin, Stefanie Beck-Wödl, Gea Beunders, Natasha J. Brown, Theresa Brunet, Han G. Brunner, Philippe M. Campeau, Goran Čuturilo, Christian Gilissen, Tobias B. Haack, Irina Hüning, Ralf A. Husain, Benjamin Kamien, Sze Chern Lim, Luca Lovrecic, Janine Magg, Ales Maver, Valancy Miranda, Danielle C. Monteil, Charlotte W. Ockeloen, Lynn S. Pais, Vasilica Plaiasu, Laura Raiti, Christopher Richmond, Angelika Rieß, Eva M.C. Schwaibold, Marleen E.H. Simon, Stephanie Spranger, Tiong Yang Tan, Michelle L. Thompson, Bert B.A. de Vries, Ella J. Wilkins, Marjolein H. Willemsen, Clyde Francks, Lisenka E.L.M. Vissers, Simon E. Fisher, Tjitske Kleefstra

المساهمون: Clinical Genetics, MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Genetics in Medicine, 24(6), 1283-1296. Lippincott Williams & Wilkins
Genetics in Medicine, 24(6), 1283-1296. Nature Publishing Group
Genetics in Medicine, 24, 1283-1296
Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine

مصطلحات موضوعية: Neuroinformatics, Heterozygote, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DNA Helicases, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Syndrome, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], CHD3, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Reduced penetrance, Phenotype, All institutes and research themes of the Radboud University Medical Center, RARE, SDG 3 - Good Health and Well-being, Neurodevelopmental disorder, Neurodevelopmental Disorders, Variable expressivity, Humans, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical), Mi-2 Nucleosome Remodeling and Deacetylase Complex, Inherited variants

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c634fbbfbfe9fc61dcffebf9b78acf3
https://doi.org/10.1016/j.gim.2022.02.014

المؤلفون: Mohamed Ghait, Ralf A. Husain, Shivalee N. Duduskar, Tobias B. Haack, Michael Rooney, Bianca Göhrig, Michael Bauer, Ignacio Rubio, Sachin D. Deshmukh

المصدر: European Journal of Immunology. 52:907-923

مصطلحات موضوعية: Inflammasomes, Macrophages, Caspase 1, Interleukin-1beta, NLR Family, Pyrin Domain-Containing 3 Protein, Immunology, Humans, Immunology and Allergy, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75871dc2c5fecc72d295a56942fb80ce
https://doi.org/10.1002/eji.202149612

المؤلفون: Ralf A. Husain, Veronka Horber, Andreas Ziegler, Katja Weiss, Marina Flotats-Bastardas, Heiko Brennenstuhl, Lena-Luise Becker, Gudrun Schreiber, Claudia Weiß, Barbara Plecko, Katharina Vill, Jessika Johannsen, Sven F. Garbade, Regina Trollmann, Klaus Goldhahn, Hans Hartmann, Wolfgang Müller-Felber, Jonas Denecke, Corinna Stoltenburg, Angela M. Kaindl, Lieske van der Stam, Martin Smitka, C. Rauscher, G. Bernert, Astrid Pechmann, Astrid Blaschek, Benedikt Winter, Sabine Illsinger, Andreas Hahn, Maja von der Hagen

المصدر: The Lancet Child & Adolescent Health. 6:17-27

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Spinal muscular atrophy, CHOP, medicine.disease, Pediatrics, Perinatology and Child Health, Cohort, Developmental and Educational Psychology, medicine, Nusinersen, Observational study, Liver function, business, Adverse effect, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::57c34606fc5294fa84475e2894938df8
https://doi.org/10.1016/s2352-4642(21)00287-x

المؤلفون: Nadja Minopoli, Hans Hartmann, Sabine Borrel, Charlotte Pfrimmer, Nicole Muschol, Bernd A. Neubauer, Martin Smitka, Janbernd Kirschner, Johanna Holzwarth, Elke Hobbiebrunken, Andreas Hahn, Ralf A. Husain, Julia B. Hennermann

المصدر: Neuropediatrics. 53:039-045

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Generalized muscle weakness, Disease, 03 medical and health sciences, 0302 clinical medicine, Genotype, Humans, Medicine, Family history, Retrospective Studies, 030304 developmental biology, 0303 health sciences, Glycogen Storage Disease Type II, business.industry, Hypertrophic cardiomyopathy, Muscle weakness, alpha-Glucosidases, General Medicine, medicine.disease, 3. Good health, Phenotype, Juvenile onset, Mutation, Pediatrics, Perinatology and Child Health, Failure to thrive, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a21e25c0fd2bb04c3a7d22d14de6585
https://doi.org/10.1055/s-0041-1735250

المؤلفون: Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian, Ralf A. Husain, Alessia Catania, Alessandra Torraco, Ahmad Alahmad, Marina Dutra-Clarke, Sabine Grønborg, Annapurna Sudarsanam, Julie Vogt, Filippo Arrigoni, Julia Baptista, Shahzad Haider, René G. Feichtinger, Paolo Bernardi, Alessandra Zulian, Mirjana Gusic, Stephanie Efthymiou, Renkui Bai, Farah Bibi, Alejandro Horga, Julian A. Martinez-Agosto, Amanda Lam, Andreea Manole, Diego-Perez Rodriguez, Romina Durigon, Angela Pyle, Buthaina Albash, Carlo Dionisi-Vici, David Murphy, Diego Martinelli, Enrico Bugiardini, Katrina Allis, Costanza Lamperti, Siegfried Reipert, Lotte Risom, Lucia Laugwitz, Michela Di Nottia, Robert McFarland, Laura Vilarinho, Michael Hanna, Holger Prokisch, Johannes A. Mayr, Enrico Silvio Bertini, Daniele Ghezzi, Elsebet Østergaard, Saskia B. Wortmann, Rosalba Carrozzo, Tobias B. Haack, Robert W. Taylor, Antonella Spinazzola, Karin Nowikovsky, Henry Houlden

المصدر: Am. J. Hum. Genet. 109, 1692-1712 (2022)
Kaiyrzhanov, R, Mohammed, S E M, Maroofian, R, Husain, R A, Catania, A, Torraco, A, Alahmad, A, Dutra-Clarke, M, Grønborg, S, Sudarsanam, A, Vogt, J, Arrigoni, F, Baptista, J, Haider, S, Feichtinger, R G, Bernardi, P, Zulian, A, Gusic, M, Efthymiou, S, Bai, R, Bibi, F, Horga, A, Martinez-Agosto, J A, Lam, A, Manole, A, Rodriguez, D P, Durigon, R, Pyle, A, Albash, B, Dionisi-Vici, C, Murphy, D, Martinelli, D, Bugiardini, E, Allis, K, Lamperti, C, Reipert, S, Risom, L, Laugwitz, L, Di Nottia, M, McFarland, R, Vilarinho, L, Hanna, M, Prokisch, H, Mayr, J A, Bertini, E S, Ghezzi, D, Østergaard, E, Wortmann, S B, Carrozzo, R, Haack, T B, Taylor, R W, Spinazzola, A, Nowikovsky, K & Houlden, H 2022, ' Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement ', American Journal of Human Genetics, vol. 109, no. 9, pp. 1692-1712 . https://doi.org/10.1016/j.ajhg.2022.07.007
American Journal of Human Genetics, 109, 9, pp. 1692-1712
American Journal of Human Genetics, 109, 1692-1712

مصطلحات موضوعية: Mitochondrial Diseases, oxidative phosphorylation, LETM1, Wolf-Hirschhorn syndrome, genetics, mitochondria, mitochondrial diseases, neurodegeneration, neurology, potassium transport, volume homeostasis, Homeostasis, Humans, Membrane Proteins, Mitochondria, Mitochondrial Proteins, Nervous System, Saccharomyces cerevisiae, Calcium-Binding Proteins, Genetics (clinical), Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Doenças Genéticas, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia, Genetics, Letm1, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Wolf-hirschhorn Syndrome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c3335fe5e93e6a1aab34ba05806a590
https://pubmed.ncbi.nlm.nih.gov/36055214

المؤلفون: null Mohamed Ghait, null Ralf A. Husain, null Shivalee N. Duduskar, null Tobias B. Haack, null Michael Rooney, null Bianca Göhrig, null Michael Bauer, null Ignacio Rubio, null Sachin D. Deshmukh

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255e495844c3c767faea74d29e2d9207
https://doi.org/10.1002/eji.202149612/v3/response1