المؤلفون: Rebecca J. Rockett, Jenny Draper, Mailie Gall, Eby M. Sim, Alicia Arnott, Jessica E. Agius, Jessica Johnson-Mackinnon, Winkie Fong, Elena Martinez, Alexander P. Drew, Clement Lee, Christine Ngo, Marc Ramsperger, Andrew N. Ginn, Qinning Wang, Michael Fennell, Danny Ko, Linda Hueston, Lukas Kairaitis, Edward C. Holmes, Matthew N. O’Sullivan, Sharon C.-A. Chen, Jen Kok, Dominic E. Dwyer, Vitali Sintchenko

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/38f87202ab14461b82215251ef687d21

المؤلفون: Carl J. E. Suster, Alicia Arnott, Grace Blackwell, Mailie Gall, Jenny Draper, Elena Martinez, Alexander P. Drew, Rebecca J. Rockett, Sharon C.-A. Chen, Jen Kok, Dominic E. Dwyer, Vitali Sintchenko

المصدر: Frontiers in Public Health, Vol 10 (2022)

مصطلحات موضوعية: genomic surveillance, public health, pathogen genomics, SARS-CoV-2, outbreak detection, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpubh.2022.1004201/full; https://doaj.org/toc/2296-2565

URL الوصول: https://doaj.org/article/d01f1ef409bf462c8dbaf704c2cd6af4

المؤلفون: Gonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, Alexander P. Drew, Eppie M. Yiu, Monique M. Ryan, David T. Chuang, Shih-Chia Tso, Garth A. Nicholson, Marina L. Kennerson

المصدر: Neurobiology of Disease, Vol 94, Iss , Pp 237-244 (2016)

مصطلحات موضوعية: X-linked Charcot-Marie-Tooth neuropathy, Pyruvate dehydrogenase kinase 3, Pyruvate dehydrogenase complex, Mitochondria, Patient fibroblasts, Dichloroacetic acid, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996116301607; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/b46098c9fc4a4bae8101113cf887d568

المؤلفون: Velimir Gayevskiy, Peter Ian Andrews, Rani Sachdev, Sarah K. Kummerfeld, Tony Roscioli, John A. Lawson, Edwin P. Kirk, Uirá Souto Melo, Sarah Righetti, Senel Idrisoglu, Monica Hong Ngoc Thai, Marcel E. Dinger, Alexander P. Drew, Rebecca Macintosh, Tejaswi Kandula, André E. Minoche, Ann M. E. Bye, Hugo Sampaio, Clare Puttick, Michael Cardamone, Cheryl Shoubridge, Luke B. Hesson, Alison Colley, Elizabeth E. Palmer, Stefan Mundlos, Mark J. Cowley, David Mowat, Ryan L. Davis

المساهمون: Palmer, Elizabeth Emma, Sachdev, Rani, Melo, Uirá Souto, Mundlos, Stefan, Thai, Monica Hong Ngoc, Kirk, Edwin

المصدر: Neurology. 96:e1770-e1782

مصطلحات موضوعية: Male, 0301 basic medicine, Movement disorders, Microarray, diagnostic test assessment, neonatal seizures, Nerve Tissue Proteins, Biology, epilepsy/seizures, 03 medical and health sciences, 0302 clinical medicine, Gene panel, Exome Sequencing, medicine, Humans, Pathology, Molecular, Gene, Exome sequencing, Whole genome sequencing, Genetics, Chromosomes, Human, X, Whole Genome Sequencing, MEF2 Transcription Factors, Infant, Pathogenicity, Additional research, 030104 developmental biology, Child, Preschool, Chromosome Inversion, Female, Neurology (clinical), medicine.symptom, Spasms, Infantile, Rho Guanine Nucleotide Exchange Factors, 030217 neurology & neurosurgery, infantile spasms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4224f0a235c0603db68a262dd8eab5b4
https://doi.org/10.1212/wnl.0000000000011655

المؤلفون: Rebecca J Rockett, Jenny Draper, Mailie Gall, Eby M Sim, Alicia Arnott, Jessica E Agius, Jessica Johnson-Mackinnon, Elena Martinez, Alexander P Drew, Clement Lee, Christine Ngo, Marc Ramsperger, Andrew N Ginn, Qinning Wang, Michael Fennell, Danny Ko, Linda Huston, Lukas Kairaitis, Edward C Holmes, Matthew N O’Sullivan, Sharon C-A Chen, Jen Kok, Dominic E Dwyer, Vitali Sintchenko

مصطلحات موضوعية: Coronavirus, COVID-19

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5659be34301df3c119d2744e4ae76a0e
https://hdl.handle.net/2123/28444

المؤلفون: Alastair Corbett, Fangzhi Frank Jia, Garth A. Nicholson, Kishore R. Kumar, Alexander P. Drew

المصدر: Neuromuscular disorders : NMD. 31(11)

مصطلحات موضوعية: musculoskeletal diseases, Weakness, Chromosomal Proteins, Non-Histone, DNMT3B, Muscle Fibers, Skeletal, Disease, Bioinformatics, Epigenesis, Genetic, DUX4, medicine, Facioscapulohumeral muscular dystrophy, Humans, Epigenetics, Muscle, Skeletal, Genetics (clinical), Homeodomain Proteins, business.industry, Mechanism (biology), Skeletal muscle, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, medicine.anatomical_structure, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, Mutation, Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e698adb5e36b953213cbf47d3f0e0de
https://pubmed.ncbi.nlm.nih.gov/34711481

المؤلفون: Aurélie Méneret, Manju A. Kurian, Michael C. Kruer, Alexander P. Drew, Niccolo E. Mencacci, Jean Madeleine de Sainte Agathe, Juliane Winkelmann, Lisa G. Riley, Sylvia Boesch, Saskia Biskup, Pedro Gonzalez-Alegre, Sheng Chih Jin, Janine Reunert, Sophie Reining, Kishore R. Kumar, Matthias Baumann, Riccardo Berutti, Fabienne Clot, Marie Vidailhet, Victor S.C. Fung, Thorsten Marquardt, Steven J. Lubbe, Robert Adam, Somayeh Bakhtiari, Tanya Bardakjian, Nicolas Derive, Ignacio Juan Keller Sarmiento, Michel Tchan, Michael Zech

المساهمون: Helmholtz Zentrum München = German Research Center for Environmental Health, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Concord Repatriation General Hospital, The University of Sydney, Garvan Institute of medical research, University Hospital Münster - Universitaetsklinikum Muenster [Germany] (UKM), Westmead Hospital [Sydney], Royal Brisbane & Women's Hospital, University of Queensland [Brisbane], Centre for Clinical Research [Brisbane], CeGaT GmbH, Barrow Neurological Institute, University of Arizona, Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Perelman School of Medicine, University of Pennsylvania, Northwestern University Feinberg School of Medicine, Institute of Child Health [London], University College of London [London] (UCL), Great Ormond Street Hospital for Children [London] (GOSH), Unité fonctionnelle de neurogénétique moléculaire et cellulaire, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Gestionnaire, Hal Sorbonne Université, Helmholtz-Zentrum München (HZM), Technische Universität München [München] (TUM), Garvan Institute of Medical Research [Darlinghurst, Australia], University of Pennsylvania [Philadelphia], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Innsbruck Medical University [Austria] (IMU), Technische Universität München [München] (TUM)-Ludwig-Maximilians-Universität München (LMU)

المصدر: Movement Disorders
Movement Disorders, In press, ⟨10.1002/mds.28804⟩
Movement Disorders, Wiley, In press, ⟨10.1002/mds.28804⟩
Mov. Disord., DOI: 10.1002/mds.28804 (2021)

مصطلحات موضوعية: Proband, Movement disorders, AOPEP, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, rare disease, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Compound heterozygosity, loss-of-function variants, Aminopeptidases, Aopep, Genomic Analysis, Loss-of-function Variants, Monogenic Dystonia, Rare Disease, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, medicine, Humans, Exome, Allele, 030304 developmental biology, Dystonia, Genetics, 0303 health sciences, Parkinsonism, Proteolytic enzymes, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, medicine.disease, Pedigree, Phenotype, Neurology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Dystonic Disorders, genomic analysis, Mutation, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery, monogenic dystonia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8656fdccf99b551bfb684e673c1760a4
https://hal.sorbonne-universite.fr/hal-03371432/file/mds.28804.pdf

المؤلفون: Christopher G. Proud, Maté Biro, Sarah K. Kummerfeld, Szun S. Tay, Jorge Luis Galeano Niño, Matt A Govendir, Alexander P. Drew, Daryan Kempe, Feyza Colakoglu, Jessica K Mazalo, Jacqueline Le Tearle, Jianling Xie

المصدر: Journal of cell science. 133(5)

مصطلحات موضوعية: 0303 health sciences, medicine.diagnostic_test, T cell, T-cell receptor, Cell, Cell Biology, Biology, CD8-Positive T-Lymphocytes, Cell morphology, Actins, Flow cytometry, Green fluorescent protein, Cell biology, 03 medical and health sciences, Actin Cytoskeleton, Mice, 0302 clinical medicine, medicine.anatomical_structure, Gene Expression Regulation, Live cell imaging, medicine, Animals, 030217 neurology & neurosurgery, CD8, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5db3c7e1a399391668327cc6e4ddbad5
https://pubmed.ncbi.nlm.nih.gov/32041902

المؤلفون: Tejaswi Kandula, Maria J. Guillen Sacoto, Mais Hashem, Saima Kayani, André E. Minoche, Edwin P. Kirk, Łukasz Jaremko, Heba M. Jalal Ahmed, Marwan Shinawi, Elizabeth E. Palmer, Christel Thauvin, Molly Snyder, Mark J. Cowley, Muddathir H Hamad, Maria Mercedes Villanueva, Seungbeom Hong, Fatema Al Zahrani, Laurence Faivre, Suliat F. Yakubu, Ann M. E. Bye, Velimir Gayevskiy, Megan T. Cho, Jasmeen S. Merzaban, Marisa V. Andrews, Alexander P. Drew, Ruth E. Bristol, Jill A. Rosenfeld, Stefan T. Arold, Lindsay B. Henderson, Antonio Vitobello, Tony Roscioli, Clare Puttick, Mariusz Jaremko, Rui Xiao, Fajr A. Aleisa, Amber Begtrup, Marilyn C. Jones, Fowzan S. Alkuraya, Rebecca Macintosh, Marcel E. Dinger, Kristin Lindstrom, Rani Sachdev, Angeles Schteinschnaider

المصدر: American journal of human genetics, vol 104, iss 3

مصطلحات موضوعية: 0301 basic medicine, Male, allelic disorders, Amino Acid Motifs, Neurodegenerative, Medical and Health Sciences, Repetitive Sequences, Epilepsy, Motif (narrative), 0302 clinical medicine, Missense mutation, 2.1 Biological and endogenous factors, Aetiology, Child, Genetics (clinical), Genetics, Pediatric, Genetics & Heredity, Neurodegeneration, Syndrome, Biological Sciences, Prognosis, Phenotype, Hypotonia, developmental delay, intellectual disability, Child, Preschool, symbols, Female, dysmorphic, medicine.symptom, Neurocognitive Disorders, Nerve Tissue Proteins, Biology, 03 medical and health sciences, symbols.namesake, Atrophy, Rare Diseases, Report, medicine, Humans, Preschool, Repetitive Sequences, Nucleic Acid, Nucleic Acid, business.industry, Neurosciences, Correction, Infant, Genetic Variation, medicine.disease, Human genetics, HX repeat, Brain Disorders, 030104 developmental biology, Mendelian inheritance, Human genome, business, Neurocognitive, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db127783b1fb1ce2a655ab86e5d0fed4
https://europepmc.org/articles/PMC6407605/

المؤلفون: Shelisa Tey, Marina L. Kennerson, Alexander P. Drew, Khean Jin Goh, Yesim Parman, Azlina Ahmad-Annuar, Byung-Ok Choi, Derek Atkinson, Michaela Auer-Grumbach, Ki Wha Chung, Garth A. Nicholson, Esra Battaloglu, Sarimah Samulong, Nortina Shahrizaila, Yi-Chung Li, Albena Jordanova

المصدر: Neurogenetics

مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic Linkage, Biopsy, Mutant, Mutation, Missense, Loss of Heterozygosity, Locus (genetics), Genes, Recessive, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Consanguinity, 0302 clinical medicine, Genetic linkage, Charcot-Marie-Tooth Disease, Exome Sequencing, Genetics, Humans, Genetic Predisposition to Disease, Allele, Gene, Genetics (clinical), Exome sequencing, Alleles, Family Health, Neurons, Messenger RNA, Malaysia, Chromosome Mapping, Membrane Proteins, Fibroblasts, Human genetics, Pedigree, nervous system diseases, Cytoskeletal Proteins, 030104 developmental biology, Haplotypes, Female, Human medicine, Lod Score, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6f7fac6a16c04b1f157dc6783d28843
https://hdl.handle.net/10067/1611880151162165141