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المؤلفون: Feride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, Maike F. Dohrn, Adriana P. Rebelo, Pantelitsa Koutsou, Anthi Georghiou, Pablo Artigas, Stephan L. Züchner, Kleopas A. Kleopa, Kyproula Christodoulou
المصدر: Journal of Neurology. 270:2576-2590
مصطلحات موضوعية: Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e09799cdcc1ad2d73e3d688a115d3767Test
https://doi.org/10.1007/s00415-023-11581-wTest -
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المؤلفون: Adriana P. Rebelo, Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi, Danique Beijer, Brooke Aaron, Jana Vandrovcova, Henry Houlden, Leslie Matalonga, Lisa Abreu, Guy Rouleau, Mehrdad A. Estiar, Liedewei Van de Vondel, Ziv Gan-Or, Jonathan Baets, Rebecca Schüle, Stephan Zuchner
المصدر: Genetics in medicine 12, 2487-2500 (2022). doi:10.1016/j.gim.2022.08.019
Genetics in medicineمصطلحات موضوعية: Neurodegenerative Diseases, Endoplasmic Reticulum, metabolism [Motor Neuron Disease], Unfolded protein response, metabolism [Endoplasmic Reticulum], Humans, metabolism [Heat-Shock Proteins], genetics [Motor Neuron Disease], Human medicine, ddc:610, chemistry [Heat-Shock Proteins], Motor neuron disease, Neurodegeneration, Motor Neuron Disease, genetics [Endoplasmic Reticulum], Endoplasmic Reticulum Chaperone BiP, Heat-Shock Proteins, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa5233d0f90f6335712dd91820fe7f80Test
https://doi.org/10.1016/j.gim.2022.08.019Test -
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المؤلفون: Maike F. Dohrn
المصدر: Klinische Neurophysiologie. 53:144-147
مصطلحات موضوعية: Physiology (medical), Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3910a01c72960179727b9647d9a144fcTest
https://doi.org/10.1055/a-1547-1173Test -
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المؤلفون: Maike F. Dohrn, Adriana P. Rebelo, Siddharth Srivastava, Gerarda Cappuccio, Robert Smigiel, Alka Malhotra, Donald Basel, Ingrid van de Laar, Rinze Frederik Neuteboom, Coranne Aarts-Tesselaar, Sonal Mahida, Nicola Brunetti-Pierri, Ryan J. Taft, Stephan Züchner
المساهمون: Dohrn, Maike F, Rebelo, Adriana P, Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J, Züchner, Stephan, Clinical Genetics, Neurology
المصدر: Neurology, 98(11), 440-445. Lippincott Williams & Wilkins
مصطلحات موضوعية: Phenotype, Intellectual Disability, Mutation, Migraine with Aura, Syndrome, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, Human
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bb4e8077d58c5414fe73db2ba434859Test
https://doi.org/10.1212/wnl.0000000000013276Test -
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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 -
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المؤلفون: Maike F. Dohrn, Christina Dumke, Ingo Kurth, Stephan Züchner
المصدر: Journal of Affective Disorders Reports. 12:100535
مصطلحات موضوعية: Psychiatry and Mental health, Clinical Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1baf94791b587149209effaa73c2831aTest
https://doi.org/10.1016/j.jadr.2023.100535Test -
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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 -
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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 -
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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