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المؤلفون: Annette Lischka, Petra Lassuthova, Arman Çakar, Christopher J. Record, Jonas Van Lent, Jonathan Baets, Maike F. Dohrn, Jan Senderek, Angelika Lampert, David L. Bennett, John N. Wood, Vincent Timmerman, Thorsten Hornemann, Michaela Auer-Grumbach, Yesim Parman, Christian A. Hübner, Miriam Elbracht, Katja Eggermann, C. Geoffrey Woods, James J. Cox, Mary M. Reilly, Ingo Kurth
المساهمون: University of Zurich, Kurth, Ingo
المصدر: Nature reviews disease primers
مصطلحات موضوعية: Pain Insensitivity, Congenital, 540 Chemistry, Humans, Pain, 610 Medicine & health, Channelopathies, General Medicine, Human medicine, 2700 General Medicine, Hereditary Sensory and Autonomic Neuropathies, 10038 Institute of Clinical Chemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90870a7c43d49582ce0faea2975bf707Test
https://pubmed.ncbi.nlm.nih.gov/35710757Test -
22دورية أكاديمية
المؤلفون: Larissa Hube, Maike F Dohrn, Gergely Karsai, Sarah Hirshman, Philip Van Damme, Jörg B Schulz, Joachim Weis, Thorsten Hornemann, Kristl G Claeys
المصدر: PLoS ONE, Vol 12, Iss 1, p e0170583 (2017)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC5256922?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Danique Beijer, Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández‐Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets
المصدر: Eur J Neurol
European journal of neurology
European journal of neurology 29(7), 2156-2161 (2022). doi:10.1111/ene.15310مصطلحات موضوعية: genetics [Hereditary Sensory and Autonomic Neuropathies], RFC1 repeat-primed PCR, genetics [Cerebellar Ataxia], Cerebellar Ataxia, autonomic dysfunction, Bilateral Vestibulopathy, afferent ataxia, Peripheral Nervous System Diseases, diagnosis [Cerebellar Ataxia], Neurology, Cough, Vestibular Diseases, chronic cough, Humans, next-generation sequencing, Ataxia, Neurology (clinical), ddc:610, complications [Peripheral Nervous System Diseases], Human medicine, genetics [Cough], Hereditary Sensory and Autonomic Neuropathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::877058a0565f786250ef642f19fcc42cTest
https://pubmed.ncbi.nlm.nih.gov/35253317Test -
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المؤلفون: Annabelle Ouwenbroek, Natalie Winter, Maike F. Dohrn, Christina Dumke, Karlheinz Reiners, Friederike Bähr, Barbara Hoppe, Manuel Dafotakis
المصدر: Klinische Neurophysiologie. 52:92-104
مصطلحات موضوعية: Gynecology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, Physiology (medical), Quantitative sensory testing, Medicine, 030209 endocrinology & metabolism, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a00123944852196b0773857be0e93eddTest
https://doi.org/10.1055/a-1335-1086Test -
25
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 -
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المؤلفون: Danique Beijer, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Maike F. Dohrn, Adriana Rebelo, Stephan Züchner, Atchayaram Nalini
المصدر: Journal of neuromuscular diseases. 9(2)
مصطلحات موضوعية: Phenotype, Neurology, Charcot-Marie-Tooth Disease, Homozygote, Mutation, Mutation, Missense, Guanine Nucleotide Exchange Factors, Humans, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f8cd37a0bb3c4ed48be6e6b62ccfdebTest
https://pubmed.ncbi.nlm.nih.gov/34897098Test -
27
المؤلفون: Ernst Hund, Jessica Medina, Maike F. Dohrn, Karmele Olaciregui Dague
المصدر: Neurological Research and Practice, Vol 3, Iss 1, Pp 1-11 (2021)
Neurological Research and Practice
Neurological research and practice 3, 57 (2021). doi:10.1186/s42466-021-00155-8مصطلحات موضوعية: medicine.medical_specialty, Neurology, Neurosciences. Biological psychiatry. Neuropsychiatry, Review, Disease, Bioinformatics, Neuroprotection, medicine, Dementia, RC346-429, Antisense oligonucleotides, Liver transplantation, biology, business.industry, Amyloidosis, Spinal muscular atrophy, Small interfering RNA, medicine.disease, Transplantation, Transthyretin, Eye involvement, CRISPR, Allele-specific genetic therapy, biology.protein, Central nervous system amyloidosis, Blood–brain barrier, Neurology. Diseases of the nervous system, business, Intrathecal administration, RC321-571
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43387899137a7ed217717334ab551053Test
https://doi.org/10.1186/s42466-021-00155-8Test -
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المؤلفون: Natalie Winter, Manuel Dafotakis, Maike F. Dohrn
المصدر: Der Nervenarzt. 91:714-721
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Diabetic neuropathy, business.industry, 030209 endocrinology & metabolism, General Medicine, medicine.disease, 03 medical and health sciences, Psychiatry and Mental health, chemistry.chemical_compound, 0302 clinical medicine, Neurology, chemistry, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Epalrestat
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bf7d99492d1458ee46e54545651850d6Test
https://doi.org/10.1007/s00115-020-00948-3Test -
29
المؤلفون: F. Escolano-Lozano, Ernst Hund, C. Sommer, Wilhelm Schulte-Mattler, Jens Schmidt, C. Geber, M. Auer-Grumbach, Ralf Baron, M. Schilling, J. Sachau, Markus Weiler, H. C. Lehmann, Maike F. Dohrn, N. Grether, F. Birklein, Katrin Hahn, T. Hagenacker
المصدر: DGNeurologie. 3:369-383
مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, business, Dermatology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f9ff761f0ac4d3b6897abe1069d34d0fTest
https://doi.org/10.1007/s42451-020-00184-8Test -
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المؤلفون: Maike F. Dohrn, Manuel Dafotakis, Sigurd Kessler
المصدر: Klinische Neurophysiologie. 51:67-72
مصطلحات موضوعية: Gynecology, 0303 health sciences, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, Physiology (medical), 030305 genetics & heredity, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::383257c65bf49c6bbedbf1ed179bb528Test
https://doi.org/10.1055/a-1134-2547Test