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1دورية أكاديمية
المؤلفون: Merel A W Oortveld, Shivakumar Keerthikumar, Martin Oti, Bonnie Nijhof, Ana Clara Fernandes, Korinna Kochinke, Anna Castells-Nobau, Eva van Engelen, Thijs Ellenkamp, Lilian Eshuis, Anne Galy, Hans van Bokhoven, Bianca Habermann, Han G Brunner, Christiane Zweier, Patrik Verstreken, Martijn A Huynen, Annette Schenck
المصدر: PLoS Genetics, Vol 9, Iss 10, p e1003911 (2013)
وصف الملف: electronic resource
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المؤلفون: Nicol C. Voermans, Claire Boulogne, Benno Küsters, Clémence Labasse, Baziel G.M. van Engelen, Coen A.C. Ottenheijm, Josine M. de Winter, Guy Brochier, Karlijn Bouman, Lilian Eshuis, Esmee S.B. Van Kleef, Norma B. Romero, A. Madelaine, Cynthia Gillet, Edoardo Malfatti
المساهمون: Physiology, ACS - Pulmonary hypertension & thrombosis
المصدر: Journal of Neuropathology and Experimental Neurology, 80, 4, pp. 366-376
Journal of Neuropathology and Experimental Neurology, 80(4), 366-376. Lippincott Williams and Wilkins
Journal of Neuropathology and Experimental Neurology, 80, 366-376
Bouman, K, Küsters, B, de Winter, J M, Gillet, C, van Kleef, E S B, Eshuis, L, Brochier, G, Madelaine, A, Labasse, C, Boulogne, C, van Engelen, B G M, Ottenheijm, C A C, Romero, N B, Voermans, N C & Malfatti, E 2021, ' NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material ', Journal of Neuropathology and Experimental Neurology, vol. 80, no. 4, pp. 366-376 . https://doi.org/10.1093/jnen/nlab012مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, genetic structures, Muscle Fibers, Skeletal, Muscle Proteins, Myopathies, Nemaline, Sarcomere, Pathology and Forensic Medicine, law.invention, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Nemaline myopathy, law, medicine, Myotilin, Humans, Myopathy, Actin, 030304 developmental biology, Aged, Netherlands, 0303 health sciences, biology, Chemistry, General Medicine, Middle Aged, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Congenital myopathy, Neurology, biology.protein, Titin, Female, Neurology (clinical), sense organs, medicine.symptom, Electron microscope, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Nicol C. Voermans, Lilian Eshuis, Martin Lammens, L. Heytens, Janice L. Holton, G. J. Knuiman, C. von Landenberg, Elizabeth Wraige, Aleksandar Radunovic, Caroline Sewry, Jens Reimann, Ros Quinlivan, Heinz Jungbluth, Renata S Scalco, Erik-Jan Kamsteeg, Istvan Bodi, Benno Küsters, W. De Ridder, M. Snoeck, Jonathan Baets
المصدر: Journal of Neurology, 266, 4, pp. 876-887
Journal of Neurology
Journal of Neurology, 266, 876-887
Journal of neurologyمصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Rhabdomyolysis, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Young Adult, 0302 clinical medicine, Biopsy, medicine, RYR1, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Child, Aged, Retrospective Studies, Malignant hyperthermia (MH), Muscle biopsy, Original Communication, medicine.diagnostic_test, business.industry, Muscles, Malignant hyperthermia, Histology, Ryanodine Receptor Calcium Release Channel, Middle Aged, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, Neurology, Child, Preschool, Mutation, Female, Human medicine, Neurology (clinical), Contracture, medicine.symptom, business, Malignant Hyperthermia, 030217 neurology & neurosurgery, Central core disease
وصف الملف: application/pdf; pdf
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المؤلفون: Ana Clara Fernandes, Anne Galy, Anna Castells-Nobau, Korinna Kochinke, Merel A.W. Oortveld, Martin Oti, Bonnie Nijhof, Bianca Habermann, Lilian Eshuis, Patrik Verstreken, Hans van Bokhoven, Han G. Brunner, Christiane Zweier, Annette Schenck, Shivakumar Keerthikumar, Eva van Engelen, Martijn A. Huynen, Thijs Ellenkamp
المساهمون: Radboud university [Nijmegen], Radboud University Medical Center [Nijmegen], VIB Center for the Biology of Disease, Flanders Institute for Biotechnology, Department of Neurosciences Leuven, University of Leuven K.U.Leuven, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Max planck Institute for Biology of Ageing [Cologne], Institute of Human Genetics [Erlangen, Allemagne], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for the Biology of Disease, and KU Leuven (VIB), HAL UPMC, Gestionnaire, Radboud University [Nijmegen], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven)
المصدر: PLoS Genetics
PLoS Genetics, Public Library of Science, 2013, 9 (10), pp.e1003911. ⟨10.1371/journal.pgen.1003911⟩
PLoS Genetics, 2013, 9 (10), pp.e1003911. ⟨10.1371/journal.pgen.1003911⟩
PLoS Genetics; Vol 9
Plos Genetics, 9, 10, pp. e1003911
PLoS Genetics, Vol 9, Iss 10, p e1003911 (2013)
Plos Genetics, 9, e1003911مصطلحات موضوعية: Cancer Research, lcsh:QH426-470, Genetics and epigenetic pathways of disease [NCMLS 6], Transgene, [SDV.GEN] Life Sciences [q-bio]/Genetics, Eye, Genomic disorders and inherited multi-system disorders [IGMD 3], Animals, Genetically Modified, 03 medical and health sciences, 0302 clinical medicine, Medizinische Fakultät, RNA interference, Intellectual Disability, Genetics, Animals, Humans, ddc:610, Molecular Biology, Gene, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Neurons, 0303 health sciences, Gene knockdown, [SDV.GEN]Life Sciences [q-bio]/Genetics, biology, Genetic Variation, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], biology.organism_classification, Phenotype, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], lcsh:Genetics, Gene Knockdown Techniques, Synapses, Energy and redox metabolism Mitochondrial medicine [NCMLS 4], Drosophila, RNA Interference, Drosophila melanogaster, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], 030217 neurology & neurosurgery, Function (biology), Metabolic Networks and Pathways, Genetic screen, Research Article
وصف الملف: application/pdf
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المؤلفون: Edwin C. M. Mariman, Lilian Eshuis, Fons J. M. Gabreëls, S.E.C. van Beersum, A.A.W.M. Gabreëls-Festen, E. LeGuern, B.G.M. van Engelen
المصدر: Journal of Neurology, Neurosurgery, and Psychiatry, 66, 569-574
Journal of Neurology, Neurosurgery, and Psychiatry, 66, pp. 569-574مصطلحات موضوعية: Adult, Male, Linkage disequilibrium, Pathology, medicine.medical_specialty, Adolescent, Genes, Recessive, Locus (genetics), Biology, Genetic determinism, Gene mapping, Charcot-Marie-Tooth Disease, SH3TC2, medicine, Humans, Child, Gene, Genetics, Hereditary motor and sensory neuropathies, Hereditaire motore en sensore neuropathieën, Haplotype, Onderzoek van mitochondrieel DNA in het kader van diagnostiek van mitochondriële myopathieen, Chromosome, Analysis of mitochondrial DNA as part of the diagnosis of mitochondrial myopathies, Pedigree, Editorial Commentary, Psychiatry and Mental health, Phenotype, Haplotypes, Child, Preschool, Papers, Chromosomes, Human, Pair 5, Female, Surgery, Neurology (clinical)
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