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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)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa5233d0f90f6335712dd91820fe7f80
https://doi.org/10.1016/j.gim.2022.08.019 -
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::566cad80b83eba4923d381a9a83e7c12
https://doi.org/10.1093/brain/awab019 -
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المؤلفون: Vladimir Camarena, Yunhong Bai, Diana Castro, Chelsea Bacon, Andrea Cortese, Anna Vainshtein, Lisa Abreu, Gabriel Gaidosh, Gal Shner, Adriana P. Rebelo, Amit Abraham, Elena Buglo, Dennis K. Burns, Elior Peles, Shawna M. E. Feely, Stephan Züchner, Yael Eshed-Eisenbach, Michael E. Shy, Mary M. Reilly, Steve Courel, Ramin Shiekhattar
المصدر: Brain
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Upper limb involvement, Immunoglobulins, Tooth disease, Charcot-Marie-Tooth Disease, Medicine, Humans, Child, Errata, business.industry, Published Erratum, Original Articles, Middle Aged, Dermatology, Axons, Pedigree, Phenotype, nervous system, Mutation, Female, Neurology (clinical), business, Cell Adhesion Molecules, Neuroglia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e8c973c997434d56a8bb7ae289eb5b6
https://pubmed.ncbi.nlm.nih.gov/33889941 -
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المؤلفون: John W. Day, Davide Pareyson, Camila Lopez-Anido, Frank Baas, John Svaren, Jasper M. Morrow, Feifei Tao, Mary M. Reilly, Camiel Verhamme, Jun Li, Shawna M. E. Feely, Gary W. Beecham, Thomas E. Lloyd, Lisa Abreu, Sabrina W. Yum, Michael E. Shy, Byung-Ok Choi, John J. Moran, David N. Herrmann, Steven S. Scherer, Stephan Züchner, Mario Saporta, Adriana P. Rebelo, Callyn A. Kirk, Susan H. Blanton, Devon Rizzo, Franco Taroni, Xingyao Wu, Charlotte J. Sumner
المصدر: Annals of Neurology. 85:316-330
مصطلحات موضوعية: 0301 basic medicine, Regulation of gene expression, Genetics, Gene knockdown, Single-nucleotide polymorphism, Biology, Charcot-Marie-Tooth Disease Type 1A, Phenotype, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Gene duplication, Neurology (clinical), Gene, Chromatin immunoprecipitation, 030217 neurology & neurosurgery
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المؤلفون: Steven S. Scherer, Adriana P. Rebelo, Susan H. Blanton, Byung-Ok Choi, Devon Rizzo, Franco Taroni, Sabrina W. Yum, Shawna M. E. Feely, John W. Day, Gary W. Beecham, Michael E. Shy, Thomas E. Lloyd, Charlotte J. Sumner, Feifei Tao, Stephan Züchner, Jun Li, David N. Herrmann, Mary M. Reilly, Frank Baas, John Svaren, Camiel Verhamme, John J. Moran, Xingyao Wu, Mario Saporta, Callyn A. Kirk, Camila Lopez-Anido, Lisa Abreu, Davide Pareyson
المساهمون: Neurology, Amsterdam Neuroscience - Neuroinfection & -inflammation, Amsterdam Reproduction & Development (AR&D)
المصدر: Journal of neuromuscular diseases, 6(2), 201-211. IOS Press
Journal of Neuromuscular Diseasesمصطلحات موضوعية: Research Report, 0301 basic medicine, Genotype, Single-nucleotide polymorphism, Genome-wide association study, Disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, Humans, SNP, Medicine, Genetic association, Genes, Modifier, Charcot-marie-tooth disease, business.industry, Odds ratio, Charcot-Marie-Tooth Disease Type 1A, 3. Good health, 030104 developmental biology, Neurology, type 1a, genome-wide association study, modifier gene, single nucleotide polymorphism, Neurology (clinical), business, 030217 neurology & neurosurgery, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bfb8de74364d067fd401c8511189c98
https://doi.org/10.3233/jnd-190377 -
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المؤلفون: Julia Wanschitz, Manuela Wiessner, Rebecca Schüle, Royston Ong, Jennefer N. Kohler, Katharina Kinslechner, Pavel Seeman, Katja Eggermann, Bruno Francou, Marina L. Kennerson, Sabine Rudnik-Schöneborn, Garth Nicholson, Lois Dankwa, Jochen Weishaupt, Wilson Marques, T Deconinck, Tanya Stojkovic, Lisa Abreu, Anja Schirmacher, Jan Senderek, Christian Beetz, Matthis Synofzik, Stephan Iglseder, Susanne Petri, Michaela Auer-Grumbach, Nigel G. Laing, Rita Horvath, Geir J. Braathen, Reinhard Windhager, Petra Lassuthova, Jonathan Baets, Albert Ludolph, Peter De Jonghe, David N. Herrmann, Ingo Kurth, Bianca Dräger, Gianina Ravenscroft, Adriana P. Rebelo, Beate Schlotter-Weigel, Tim M. Strom, Phillipa J. Lamont, Stefan Toegel, Daniela Weinmann, David A. Brenner, Andrzej Kochański, Dagmara Kabzińska, Joline Dalton, David Walk, Carina Fischer, Giulia Ricci, Helle Høyer, Ludger Schoels, Stephan Züchner, Peter Young, Löscher Wolfgang N, Johannes Wagner, Melina Ellis
المساهمون: Dankwa, Lois [0000-0002-0259-9550], Kurth, Ingo [0000-0002-5642-8378], Apollo - University of Cambridge Repository
المصدر: Neurology 95(24), e3163-e3179 (2020). doi:10.1212/WNL.0000000000011132
مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Population, blood [Neprilysin], Disease, Genetic analysis, Whole Exome Sequencing, genetics [Neprilysin], 03 medical and health sciences, 0302 clinical medicine, blood [Hereditary Sensory and Motor Neuropathy], Charcot-Marie-Tooth Disease, blood [Charcot-Marie-Tooth Disease], Exome Sequencing, blood [Aging], Medicine, Humans, Genetic Predisposition to Disease, ddc:610, genetics [Genetic Predisposition to Disease], Allele, Age of Onset, education, Neprilysin, Exome sequencing, Aged, Genetics, education.field_of_study, business.industry, genetics [Hereditary Sensory and Motor Neuropathy], High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, 030104 developmental biology, Female, Neurology (clinical), genetics [Charcot-Marie-Tooth Disease], Age of onset, business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery
وصف الملف: application/octet-stream; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd83f458ea8f8c3459dda9f6467c43b7
http://hdl.handle.net/11568/1066057 -
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المؤلفون: Enrico Bugiardini, Matt C. Danzi, Nourelhoda A Haridy, Ruxu Zhang, Lisa Abreu, Thierry Maisonobe, Dana M. Bis-Brewer, Fiore Manganelli, Davide Pareyson, Yunhong Bai, Enrico Marchioni, Adriana P. Rebelo, Andrea Cortese, Yi Zhu, Matthis Synofzik, Sherifa A. Hamed, Michael E. Shy, Tanya Stojkovic, Zhiqiang Lin, Alaa Khan, Mohamed A. Abdelhamed, Michaela Auer-Grumbach, Stefania Magri, Stefano Tozza, Chelsea Bacon, Matilde Laura, Alkyoni Athanasiou-Fragkouli, Alexander M. Rossor, Chiara Pisciotta, R. Grace Zhai, Janet E. Sowden, Mary M. Reilly, Abdullah Al-Ajmi, Rebecca Schüle, Shawna M. E. Feely, Stephan Züchner, David N. Herrmann, Steve Courel, Steven S. Scherer, Beisha Tang, Julia E. Dallman, Paola Saveri, Franco Taroni, Jana Vandrovcova, Lucio Santoro, Eric Powell, Menelaos Pipis, Elena Buglo, Sara Negri, Henry Houlden, Elena Grignani, Rosario Isasi
المصدر: Nature genetics 52(6), 640 (2020). doi:10.1038/s41588-020-0649-7
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Diabetes mellitus, Published Erratum, ddc:570, Genetics, MEDLINE, medicine, Biology, medicine.disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92142d06c986e6a8c25c3a661e777559
https://pub.dzne.de/record/163921 -
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المؤلفون: Franco Taroni, Enrico Marchioni, Thierry Maisonobe, Mary M. Reilly, Enrico Bugiardini, Jana Vandrovcova, Steve Courel, Alkyoni Athanasiou-Fragkouli, Chiara Pisciotta, Fiore Manganelli, Janet E. Sowden, Davide Pareyson, Matthis Synofzik, Abdullah Al-Ajmi, Rebecca Schüle, Matt C. Danzi, Sherifa A. Hamed, Adriana P. Rebelo, R. Grace Zhai, Chelsea Bacon, Zhiqiang Lin, Michaela Auer-Grumbach, Eric Powell, Shawna M. E. Feely, Alaa Khan, Steven S. Scherer, Tanya Stojkovic, Julia E. Dallman, Yunhong Bai, Dana M. Bis-Brewer, Paola Saveri, Henry Houlden, Stefano Tozza, Lucio Santoro, Stephan Züchner, Elena Grignani, David N. Herrmann, Michael E. Shy, Mohamed A. Abdelhamed, Stefania Magri, Andrea Cortese, Menelaos Pipis, Yi Zhu, Beisha Tang, Matilde Laura, Alexander M. Rossor, Nourelhoda A Haridy, Ruxu Zhang, Lisa Abreu, Elena Buglo, Sara Negri, Rosario Isasi
المصدر: Nature genetics 52(5), 473-481 (2020). doi:10.1038/s41588-020-0615-4
Nature Genetics
Nat Genetمصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Aldose reductase, Diabetic neuropathy, Sorbitol dehydrogenase, Biology, medicine.disease, Compound heterozygosity, Phenotype, Article, 3. Good health, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Polyol pathway, Endocrinology, chemistry, ddc:570, Internal medicine, Diabetes mellitus, Genetics, medicine, Sorbitol, 030217 neurology & neurosurgery, 030304 developmental biology
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المؤلفون: Dana Šafka Brožková, Rene Barro-Soria, H. Peter Larsson, Petra Laššuthová, Shawna M. E. Feely, Pavel Seeman, Eric Powell, Yi-Chung Lee, Elena Buglo, Daniel G. Isom, Cima Saghira, Feifei Tao, Royston Ong, Yunhong Bai, Steven S. Scherer, Lorna Marns, Chelsea Bacon, Gianina Ravenscroft, Megan F. Baxter, Lisa Abreu, Stephan Züchner, Jana Haberlová, Phillipa J. Lamont, Adriana P. Rebelo, Fiore Manganelli, Mark R. Davis, Lucio Santoro, Steve Courel, Ki Wha Chung, Dana M. Bis, Radim Mazanec, Michael E. Shy, Byung Ok Choi, Nigel G. Laing
المساهمون: Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan
المصدر: The American Journal of Human Genetics. 102:505-514
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Charcot-Marie-Tooth, axonal neuropathy, Protein subunit, Mutant, Xenopus, Biology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetic, Charcot-Marie-Tooth Disease, Report, Genetics, Humans, Missense mutation, Family, Amino Acid Sequence, Na+,K+ATPase, Na+/K+-ATPase, Child, Gene, Genetics (clinical), Aged, Genes, Dominant, Aged, 80 and over, CMT, genetic matchmaking, ATP1A1, Middle Aged, biology.organism_classification, Molecular biology, Axolemma, Pedigree, 030104 developmental biology, Mutation, Female, Mendelian disease, Sodium-Potassium-Exchanging ATPase, 030217 neurology & neurosurgery, Immunostaining
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cedc66075ce50765bde1ecbd17fed84
https://doi.org/10.1016/j.ajhg.2018.01.023 -
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المؤلفون: Diana Mnatsakanova, Tyler C. Huff, K. Mathews, Adriana P. Rebelo, Michael E. Shy, Eric A. Schon, Lisa Abreu, Amjad Farooq, Carlos T. Moraes, Claudia V. Pereira, Stephan Züchner, Hua Yang, Dimah Saade
المصدر: Brain. 141:662-672
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, biology, business.industry, ATP7A, Cardiomyopathy, Heterozygote advantage, medicine.disease, Compound heterozygosity, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, biology.protein, Cytochrome c oxidase, Missense mutation, Charcot-Marie-Tooth disease type 4, Neurology (clinical), Copper deficiency, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::44c66eb8a325a342af3577fd9425cef7
https://doi.org/10.1093/brain/awx369