المؤلفون: Maike F. Dohrn, Guney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, Matt C. Danzi, Stephanie A. Bivona, Paul Gueguen, Mohammad F. Zafeer, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 1075-1079 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2328-9503Test

الوصول الحر: https://doaj.org/article/621c5d64a86f4fbbbe35914e2ccaad1fTest

المؤلفون: Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vivian Cintra, Stephan Züchner

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/4cc519ca5d0d44cf89170a29c010ba5aTest

المؤلفون: Yi Zhu, Amanda G. Lobato, Adriana P. Rebelo, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao, Sheyum Syed, Christopher Yanick, Mario Saporta, Michael Shy, Riccardo Perfetti, Shoshana Shendelman, Stephan Züchner, R. Grace Zhai

المصدر: JCI Insight, Vol 8, Iss 10 (2023)

مصطلحات موضوعية: Cell biology, Neuroscience, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2379-3708Test

الوصول الحر: https://doaj.org/article/4657417178b445e989e14adc2d9805e9Test

المؤلفون: Serra, Adriana Catarina Rebelo

المساهمون: Esteves, Rosa Branca, Universidade do Minho

مصطلحات موضوعية: Bases de dados, Big data, Discriminação de preços, Entrada, Política de concorrência, Competition policy, Database accuracy, Entry, Price discrimination, Ciências Sociais::Economia e Gestão

وصف الملف: application/pdf

العلاقة: 203243226

الإتاحة: https://hdl.handle.net/1822/83523Test

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

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 medicine

مصطلحات 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

المؤلفون: Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike Dohrn, Eva Nyvltova, Matt Denzi, Mark Garrett, Sean Smith, Alan Pestronk, ChengCheng Li, Ariel Ruiz, Elizabeth Jacobs, Shawna M E Feely, Marcondes C França, Marcus V Gomes, Diogo Santos, Surinder Kumar, David B Lombard, Mario Saporta, Siegfried Hekimi, Antonio Barrientos, Conrad Weihl, Michael Shy, Wilson Marques, Stephan Zuchner

المصدر: Brain.

مصطلحات موضوعية: Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f54e4fb3daa047213cac418873ee1a41Test
https://doi.org/10.1093/brain/awad158Test

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

المؤلفون: Diana Castro, Mary M. Reilly, Steve Courel, Amit Abraham, Lisa Abreu, Chelsea Bacon, Gal Shner, Ramin Shiekhattar, Yael Eshed-Eisenbach, Anna Vainshtein, Andrea Cortese, Elior Peles, Michael E. Shy, Elena Buglo, Yunhong Bai, Gabriel Gaidosh, Stephan Züchner, Adriana P. Rebelo, Vladimir Camarena, Dennis K. Burns, Shawna M. E. Feely

المصدر: Brain. 144:1197-1213

مصطلحات موضوعية: 0301 basic medicine, Mutation, Cell adhesion molecule, Endoplasmic reticulum, Mutant, Biology, medicine.disease_cause, Cell biology, 03 medical and health sciences, Myelin, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, nervous system, Mutant protein, medicine, Neuroglia, Neurology (clinical), Axon, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::566cad80b83eba4923d381a9a83e7c12Test
https://doi.org/10.1093/brain/awab019Test

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

المصدر: Neurology

مصطلحات موضوعية: Phenotype, Intellectual Disability, Migraine with Aura, Mutation, Clinical/Scientific Note, Humans, Syndrome, Sodium-Potassium-Exchanging ATPase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::fc8b88f78f8bfaa82c69fc31cda08c37Test
https://pubmed.ncbi.nlm.nih.gov/35110381Test