المؤلفون: Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/efb3c57b4f0d4386a06f31ca1da16fc6

المؤلفون: Marta F. Nabais, Simon M. Laws, Tian Lin, Costanza L. Vallerga, Nicola J. Armstrong, Ian P. Blair, John B. Kwok, Karen A. Mather, George D. Mellick, Perminder S. Sachdev, Leanne Wallace, Anjali K. Henders, Ramona A. J. Zwamborn, Paul J. Hop, Katie Lunnon, Ehsan Pishva, Janou A. Y. Roubroeks, Hilkka Soininen, Magda Tsolaki, Patrizia Mecocci, Simon Lovestone, Iwona Kłoszewska, Bruno Vellas, the Australian Imaging Biomarkers and Lifestyle study, the Alzheimer’s Disease Neuroimaging Initiative, Sarah Furlong, Fleur C. Garton, Robert D. Henderson, Susan Mathers, Pamela A. McCombe, Merrilee Needham, Shyuan T. Ngo, Garth Nicholson, Roger Pamphlett, Dominic B. Rowe, Frederik J. Steyn, Kelly L. Williams, Tim J. Anderson, Steven R. Bentley, John Dalrymple-Alford, Javed Fowder, Jacob Gratten, Glenda Halliday, Ian B. Hickie, Martin Kennedy, Simon J. G. Lewis, Grant W. Montgomery, John Pearson, Toni L. Pitcher, Peter Silburn, Futao Zhang, Peter M. Visscher, Jian Yang, Anna J. Stevenson, Robert F. Hillary, Riccardo E. Marioni, Sarah E. Harris, Ian J. Deary, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Wouter van Rheenen, Leonard H. van den Berg, Pamela J. Shaw, Cristopher E. Shaw, Karen E. Morrison, Ammar Al-Chalabi, Jan H. Veldink, Eilis Hannon, Jonathan Mill, Naomi R. Wray, Allan F. McRae

المصدر: Genome Biology, Vol 22, Iss 1, Pp 1-30 (2021)

مصطلحات موضوعية: Neurodegenerative disorders, DNA methylation, Mixed-linear models, Methylation profile score, Out-of-sample classification, Inflammatory markers, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/201eefeb04d04cf0871060b72f55eedd

المؤلفون: James D Triplett, Con Yiannikas, Garth Nicholson

المصدر: BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2632-6140

URL الوصول: https://doaj.org/article/dcfb4d03f36746c98aa17695107cd0a5

المؤلفون: Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

المصدر: Disease Models & Mechanisms, Vol 13, Iss 2 (2020)

مصطلحات موضوعية: atp7a, copper, induced pluripotent stem cell, motor neurons, dhmn, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/13/2/dmm041541; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/96cf025b67e84cd9944cad361424728a

المؤلفون: Monique Bax, Rachelle Balez, Sonia Sanz Muñoz, Dzung Do-Ha, Claire H. Stevens, Tracey Berg, Mauricio C. Cabral-da-Silva, Martin Engel, Garth Nicholson, Shu Yang, Ian P. Blair, Lezanne Ooi

المصدر: Stem Cell Research, Vol 40, Iss , Pp - (2019)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506119301606; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/24aceff198744133ade4e5f0a2bd9611

المؤلفون: Rebecca Meyer-Schuman, Sheila Marte, Tyler J. Smith, Shawna M.E. Feely, Marina Kennerson, Garth Nicholson, Mike E. Shy, Kristin S. Koutmou, Anthony Antonellis

المصدر: Human Molecular Genetics.

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5c6c8f57e067217c5125f5667dc5ac0
https://doi.org/10.1093/hmg/ddad054

المؤلفون: Sonia Sanz Muñoz, Martin Engel, Rachelle Balez, Dzung Do-Ha, Mauricio Castro Cabral-da-Silva, Damian Hernández, Tracey Berg, Jennifer A. Fifita, Natalie Grima, Shu Yang, Ian P. Blair, Garth Nicholson, Anthony L. Cook, Alex W. Hewitt, Alice Pébay, Lezanne Ooi

المصدر: Cells, Vol 9, Iss 9, p 2018 (2020)

مصطلحات موضوعية: induced pluripotent stem cells, disease modelling, neuronal differentiation, cholinergic neurons, Alzheimer’s disease, frontotemporal dementia, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/9/9/2018; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/89e7ab23e46047a6a0f8fe91d1fcfe64

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

المؤلفون: Antonia S. Carroll, Joshua Burns, Garth Nicholson, Matthew C. Kiernan, Steve Vucic

المصدر: Seminars in neurology. 39(5)

مصطلحات موضوعية: Porphyrias, Mitochondrial Diseases, Neurology, Humans, Peripheral Nervous System Diseases, Neurology (clinical), Diagnostic Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::959306ca1f8aa7cc174e11c0817e7d4b
https://pubmed.ncbi.nlm.nih.gov/31639845

المؤلفون: Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten

المصدر: Disease Models & Mechanisms
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)

مصطلحات موضوعية: 0301 basic medicine, Medicine (miscellaneous), lcsh:Medicine, medicine.disease_cause, Pathogenesis, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Homeostasis, Induced pluripotent stem cell, Motor neurons, Mutation, Cell Differentiation, Genetic Diseases, X-Linked, 3. Good health, Mitochondria, ATP7A Gene, medicine.anatomical_structure, Phenotype, Spinal Cord, lcsh:RB1-214, Research Article, ATP7A, Induced Pluripotent Stem Cells, Karyotype, Neuroscience (miscellaneous), Down-Regulation, Biology, Models, Biological, General Biochemistry, Genetics and Molecular Biology, dHMN, Muscular Atrophy, Spinal, 03 medical and health sciences, Downregulation and upregulation, medicine, lcsh:Pathology, Humans, Amino Acid Sequence, Gene, Base Sequence, lcsh:R, Fibroblasts, 030104 developmental biology, nervous system, Copper-Transporting ATPases, Soma, Energy Metabolism, Neuroscience, 030217 neurology & neurosurgery, Copper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb26cb49c95f336945f646ca0ac7ee64
https://pubmed.ncbi.nlm.nih.gov/31969342