المؤلفون: Maike F. Dohrn, Christina Dumke, Thorsten Hornemann, Stefan Nikolin, Angelika Lampert, Volker Espenkott, Jan Vollert, Annabelle Ouwenbroek, Martina Zanella, Jörg B. Schulz, Burkhard Gess, Roman Rolke

المساهمون: University of Zurich, Rolke, Roman

مصطلحات موضوعية: Adult, Male, Sphingolipids, Small Fiber Neuropathy, 610 Medicine & health, Ascorbic Acid, Overweight, Oxidative Stress, Anesthesiology and Pain Medicine, 2728 Neurology (clinical), Neurology, 2808 Neurology, Hypertension, 540 Chemistry, Humans, Female, Neurology (clinical), 2703 Anesthesiology and Pain Medicine, Skin, 10038 Institute of Clinical Chemistry

وصف الملف: Deoxy_sphingolipids__oxidative_stress__and_vitamin.18.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471ca89bd53a4c3114849edca22e95bcTest
https://doi.org/10.5167/uzh-229107Test

المؤلفون: Kathrin Reetz, Yuliia V. Nikonishyna, Nadine J. Ortner, Jessica Hoffmann, Jörg Striessnig, Saskia Biskup, Jörg B. Schulz, Teresa Kaserer, Maike F. Dohrn, Manuel Dafotakis

المصدر: Movement disorders 37(2), 401-404 (2022). doi:10.1002/mds.28835

مصطلحات موضوعية: Patch-Clamp Techniques, Ataxia, Voltage-dependent calcium channel, Chemistry, Mutant, Mutation, Missense, Transfection, Middle Aged, medicine.disease, Phenotype, Molecular biology, Neurology, medicine, Spinocerebellar ataxia, Humans, Spinocerebellar Ataxias, Missense mutation, Female, Calcium Channels, Disulfides, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ab014adef34d6863216a0029d37a74Test
https://publications.rwth-aachen.de/record/852006Test

المؤلفون: Michael Gadermayr, Jörg B. Schulz, Maike F. Dohrn, Christiane K. Kuhl, M. Müller, Sandro Romanzetti, N Krämer, Kathrin Reetz, Burkhard Gess

المصدر: Muscle & nerve 61(5), 600-607 (2020). doi:10.1002/mus.26827

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Physiology, 030105 genetics & heredity, Muscle volume, Thigh, Positive correlation, Myositis, Inclusion Body, 03 medical and health sciences, Cellular and Molecular Neuroscience, Automation, 0302 clinical medicine, Diabetic Neuropathies, Muscular Diseases, Charcot-Marie-Tooth Disease, Physiology (medical), Edema, Image Processing, Computer-Assisted, Medicine, Humans, ddc:610, Myopathy, Muscle, Skeletal, Aged, Retrospective Studies, Muscle mri, Myositis, business.industry, Peripheral Nervous System Diseases, Organ Size, Middle Aged, Magnetic Resonance Imaging, Polymyositis, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Case-Control Studies, Biomarker (medicine), Female, Neurology (clinical), medicine.symptom, business, Nuclear medicine, Body mass index, 030217 neurology & neurosurgery, Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43530dc9082ea331ef71fa139d6c8f4dTest
https://pubmed.ncbi.nlm.nih.gov/32203396Test

المؤلفون: Bertold Schrank, Burkhard Gess, Anja Schirmacher, Konstanze Hörtnagel, Gerhard Kurlemann, Alexander Grimm, G. Christoph Korenke, Florian Battke, Thorsten Hornemann, Peter Young, Saskia Biskup, Markus Blankenburg, Istvan Katona, Maike F. Dohrn, Urania Kotzaeridou, Christine Bauer, Saranya Suriyanarayanan, Holger Lerche, Corina Heller, Stefan Wolking, Andreas Ferbert, Beate Schlotter-Weigel, Andrea Becker, Ludger Schöls, Jörg B. Schulz, Bianca Dräger, Nicola Glöckle, Debora Vittore, Dirk Fischer, Erik Riesch, Lejla Mulahasanovic, Julia Mohr, Kristl G. Claeys

المصدر: Journal of neurochemistry. 143(5)

مصطلحات موضوعية: 0301 basic medicine, Male, HSP27 Heat-Shock Proteins, Biology, Bioinformatics, Biochemistry, DNA sequencing, LMNA, 03 medical and health sciences, Cellular and Molecular Neuroscience, symbols.namesake, 0302 clinical medicine, Rare Diseases, Charcot-Marie-Tooth Disease, SH3TC2, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Exome sequencing, Heat-Shock Proteins, Sanger sequencing, Genetics, High-Throughput Nucleotide Sequencing, Familial amyloid neuropathy, medicine.disease, 030104 developmental biology, Phenotype, Mutation (genetic algorithm), Mutation, symbols, Female, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::477c994590e905da83efb7d9e6d8b814Test
https://pubmed.ncbi.nlm.nih.gov/28902413Test

المؤلفون: Philip Van Damme, Gergely Karsai, Larissa Hube, Kristl G. Claeys, Thorsten Hornemann, Jörg B. Schulz, Joachim Weis, Maike F. Dohrn, Sarah Hirshman

المساهمون: Nógrádi, Antal, University of Zurich

المصدر: PLOS ONE 12(1), e0170583 (2017). doi:10.1371/journal.pone.0170583
PLoS ONE
PLoS one 12(1), e0170583-(2017). doi:10.1371/journal.pone.0170583
PLoS ONE, Vol 12, Iss 1, p e0170583 (2017)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Physiology, Biopsy, lcsh:Medicine, Blood Pressure, Pathology and Laboratory Medicine, Vascular Medicine, Biochemistry, Epithelium, 0302 clinical medicine, Diabetic Neuropathies, Glucose Metabolism, Animal Cells, 540 Chemistry, Electroneuronography, Medicine and Health Sciences, lcsh:Science, 10038 Institute of Clinical Chemistry, Metabolic Syndrome, Multidisciplinary, CD68, Hematology, Middle Aged, Lipids, 3. Good health, Body Fluids, medicine.anatomical_structure, Blood, Hyperlipidemia, Carbohydrate Metabolism, Female, ddc:500, medicine.symptom, Anatomy, Cellular Types, Polyneuropathy, Research Article, medicine.medical_specialty, Hypercholesterolemia, 610 Medicine & health, Sural nerve, Inflammation, Surgical and Invasive Medical Procedures, 1100 General Agricultural and Biological Sciences, Blood Plasma, 03 medical and health sciences, Polyneuropathies, Signs and Symptoms, 1300 General Biochemistry, Genetics and Molecular Biology, Diagnostic Medicine, medicine, Humans, Aged, 1000 Multidisciplinary, Sphingolipids, business.industry, Nervous tissue, lcsh:R, Microangiopathy, Biology and Life Sciences, Endothelial Cells, Epithelial Cells, Cell Biology, medicine.disease, Axons, 030104 developmental biology, Biological Tissue, Metabolism, Case-Control Studies, Metabolic Disorders, Chronic Disease, lcsh:Q, Metabolic syndrome, business, 030217 neurology & neurosurgery

وصف الملف: Electronic-eCollection; 0170583.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::991be78222263ab6e5e2e33afadbcda0Test

المؤلفون: Irina Alecu, E Fähndrich, Heiko Bode, Alaa Othman, Kristl G. Claeys, Thorsten Hornemann, Maike F. Dohrn, Sarah Hirshman, Jörg B. Schulz, Joachim Weis, W Karges

المساهمون: University of Zurich, Claeys, K G

المصدر: European journal of neurology. 22(5)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, 610 Medicine & health, Sural nerve, Chronic inflammatory demyelinating polyneuropathy, Gastroenterology, Nerve conduction velocity, Vibration perception, Polyneuropathies, Diabetic Neuropathies, Diabetes mellitus, Internal medicine, 540 Chemistry, Medicine, Humans, 10038 Institute of Clinical Chemistry, Aged, Sphingolipids, business.industry, Amyotrophic Lateral Sclerosis, Sensory loss, Middle Aged, medicine.disease, Erythromelalgia, 2728 Neurology (clinical), medicine.anatomical_structure, Endocrinology, Neurology, Diabetes Mellitus, Type 2, 2808 Neurology, Female, Neurology (clinical), Disease Susceptibility, business, Polyneuropathy, Sensory nerve

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::141b02cc8d5f109a914e7b3a1bdbc64aTest
https://pubmed.ncbi.nlm.nih.gov/25623782Test

المؤلفون: Maike F. Dohrn, Matthias Vorgerd, Joachim Weis, Jan De Bleecker, Peter Van den Bergh, Kristl G. Claeys, Jörg B. Schulz, Jean-Jacques Martin, Katrin Hinderhofer, Andreas Ferbert, Christoph Röcken, J. Michael Schröder

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Journal of Neurology : official journal of the European Neurological Society, Vol. 260, no.12, p. 3093-3108 (2013)
Journal of neurology

مصطلحات موضوعية: Tafamidis, Male, Pathology, medicine.medical_specialty, endocrine system, Late onset, chemistry.chemical_compound, Medicine, Humans, Ataxic Gait, Age of Onset, Aged, Aged, 80 and over, Amyloid Neuropathies, Familial, biology, business.industry, Autosomal dominant trait, nutritional and metabolic diseases, medicine.disease, Pedigree, Amyloid Neuropathy, Transthyretin, Neurology, chemistry, biology.protein, Disease Progression, Female, Neurology (clinical), Human medicine, Age of onset, business, Polyneuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd25c49dcccba3278d8c90be0daa5f6Test
https://pubmed.ncbi.nlm.nih.gov/24101130Test