Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

Συγγραφείς: Zerafati-Jahromi, G., Oxman, E., Hoang, H.D., Charng, W.L., Kotla, T., Yuan, W., Ishibashi, K., Sebaoui, S., Luedtke, K., Winrow, B., Ganetzky, R.D., Ruiz, Anna, Manso-Bazús, Carmen, Spataro, Nino, Kannu, P., Athey, T., Peroutka, C., Barnes, C., Sidlow, R., Anadiotis, G., Magnussen, K., Valenzuela, Irene, Moles-Fernández, Alejandro, Berger, S., Grant, C.L., Vilain, E., Arnadottir, G.A., Sulem, P., Sulem, T.S., Stefansson, K., Massey, S., Ginn, N., Poduri, A., D'Gama, A.M., Valentine, R., Trowbridge, S.K., Murali, C.N., Franciskovich, R., Tran, Y., Webb, B.D., Keppler-Noreuil, K.M., Hall, A.L., McGivern, B., Monaghan, K.G., Guillen Sacoto, M.J., Baldridge, D., Silverman, G.A., Dahiya, S., Turner, T.N., Schedl, T., Corbin, J.G., Pak, S.C., Zohn, I.E., Gurnett, C.A., Universitat Autònoma de Barcelona

Θεματικοί όροι: Epilepsy, HECTD1, Autism, Ubiquitin-proteasome system, Neurodevelopmental disorders

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://ddd.uab.cat/record/319535

A novel mode of translocation for cytolethal distending toxin

Συγγραφείς: Guerra, L, Nemec, KN, Massey, S, Tatulian, SA, Thelestam, M, Frisan, T, Teter, K

Πηγή: BIOCHIMICA ET BIOPHYSICA ACTA: INTERNATIONAL JOURNAL OF BIOCHEMISTRY AND BIOPHYSICS. 1793(3):489-495

Σύνδεσμος πρόσβασης: http://kipublications.ki.se/Default.aspx?queryparsed=id:118455520

The incidence of dry chlorhexidine gluconate transfer from skin to surgical gloves: a simulation and in vitro study

Συγγραφείς: Taylor, J. ^a, Chau, A. ^b, Gunka, V. ^b, Polishchuk, E. ^c, Albert, A. ^d, Chen, J. ^c, Massey, S. ^{b, ⁎}

Πηγή: In International Journal of Obstetric Anesthesia February 2021 45:111-114

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)

Συγγραφείς: Kaur S., Van Bergen N. J., Ben-Zeev B., Leonardi E., Tan T. Y., Coman D., Kamien B., White S. M., St John M., Phelan D., Rigbye K., Lim S. C., Torres M. C., Marty M., Savva E., Zhao T., Massey S., Murgia A., Gold W. A., Christodoulou J.

Πηγή: Journal of Genetics and Genomics. 47:650-654

Θεματικοί όροι: Adult, Male, 0301 basic medicine, 0303 health sciences, Adolescent, Lysine Acetyltransferases, Young Adult, 03 medical and health sciences, Rett syndrome, Child, Preschool, Intellectual Disability, Genetics, Rett Syndrome, Humans, Female, Genetic Predisposition to Disease, Child, Histone Acetyltransferases

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/33386251
https://research-repository.griffith.edu.au/handle/10072/401492
https://www.ncbi.nlm.nih.gov/pubmed/33386251
https://pubmed.ncbi.nlm.nih.gov/33386251/
https://findanexpert.unimelb.edu.au/scholarlywork/1488831-expanding-the-genetic-landscape-of-rett-syndrome-to-include-lysine-acetyltransferase-6a-(kat6a)
https://api.elsevier.com/content/article/PII:S1673852720301661?httpAccept=text/xml
https://research-repository.uwa.edu.au/en/publications/expanding-the-genetic-landscape-of-rett-syndrome-to-include-lysin
https://hdl.handle.net/11577/3391282
https://doi.org/10.1016/j.jgg.2020.09.003
https://www.sciencedirect.com/science/article/pii/S1673852720301661?via=ihub

An Effective CTL Peptide Vaccine for Ebola Zaire Based on Survivors’ CD8+ Targeting of a Particular Nucleocapsid Protein Epitope with Potential Implications for COVID-19 Vaccine Design

Συγγραφείς: Herst, C. V., Burkholz, S., Sidney, J., Sette, A., Harris, P. E., Massey, S., Brasel, T., Cunha-Neto, E., Rosa, D. S., Chao, W. C. H., Carback, R., Hodge, T., Wang, L., Ciotlos, S., Lloyd, P., Rubsamen, R.

Πηγή: Vaccine

Θεματικοί όροι: CTL vaccine, Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), COVID-19 Vaccines, Pneumonia, Viral, Immunology, bats, Epitopes, T-Lymphocyte, Ebola Zaire vaccine, Flow Focusing, Ebola virus disease, bat, Article, Controller, Mice, 03 medical and health sciences, COVID-19 (Disease), 0302 clinical medicine, Chiroptera, Animals, Humans, Animalia, Amino Acid Sequence, Ebola Vaccines, Chordata, Pandemics, Vaccines, General Veterinary, General Immunology and Microbiology, SARS-CoV-2, FOS: Clinical medicine, Public Health, Environmental and Occupational Health, CTL Vaccine, COVID-19, Viral Vaccines, Biodiversity, Hemorrhagic Fever, Ebola, Nucleocapsid Proteins, YQVNNLEEI, 3. Good health, Mice, Inbred C57BL, Disease Models, Animal, Infectious Diseases, Flow focusing, Drug Design, Vaccines, Subunit, Mammalia, Molecular Medicine, Coronavirus Infections, T-Lymphocytes, Cytotoxic

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/32418793
https://www.biorxiv.org/content/10.1101/2020.02.25.963546v3
https://www.biorxiv.org/content/biorxiv/early/2020/02/27/2020.02.25.963546.full.pdf
http://www.biorxiv.org/content/10.1101/2020.02.25.963546v2.abstract

Recursively partitioning neural networks for radar target recognition

Συγγραφείς: Kerstetter, T., Massey, S., Roberts, J.

Πηγή: IJCNN'99. International Joint Conference on Neural Networks. Proceedings (Cat. No.99CH36339) Neural networks Neural Networks, 1999. IJCNN '99. International Joint Conference on. 5:3208-3212 vol.5 1999

Relation: Proceedings of International Conference on Neural Networks

A digitally controlled wideband precision electronic attenuator

Συγγραφείς: Massey, S., Johnson, B.

Πηγή: IMTC/99. Proceedings of the 16th IEEE Instrumentation and Measurement Technology Conference (Cat. No.99CH36309) Instrumentation and measurement technology Instrumentation and Measurement Technology Conference, 1999. IMTC/99. Proceedings of the 16th IEEE. 1:521-524 vol.1 1999

Relation: IMTC/99. Proceedings of the 16th IEEE Instrumentation and Measurement Technology Conference. Measurements for the New Millennium

A multi-agent framework for visual surveillance

Συγγραφείς: Orwell, J., Massey, S., Remagnino, P., Greenhill, D., Jones, G.A.

Πηγή: Proceedings 10th International Conference on Image Analysis and Processing Image analysis and processing Image Analysis and Processing, 1999. Proceedings. International Conference on. :1104-1107 1999

Relation: Proceedings of ICIAP '99 - 10th International Conference on Image Analysis and Processing

The Effect of Phase Conjugation Fidelity on Stimulated Brillouin Scattering Threshold

Συγγραφείς: Massey, S. M., Russell, T. H.

Πηγή: IEEE Journal of Selected Topics in Quantum Electronics IEEE J. Select. Topics Quantum Electron. Selected Topics in Quantum Electronics, IEEE Journal of. 15(2):399-405 Apr, 2009

The effects of transcutaneous spinal cord stimulation delivered with and without high-frequency modulation on spinal and corticospinal excitability

Συγγραφείς: Massey, S, Konig, D, Upadhyay, P, Evcil, ZB, Melin, R, Fatima, M, Hannah, R, Duffell, L

Πηγή: Artificial Organs (2023) (In press).

Θεματικοί όροι: Corticospinal excitability, spinal cord injury, spinal cord stimulation

Περιγραφή αρχείου: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10179808/

Διαθεσιμότητα: https://discovery.ucl.ac.uk/id/eprint/10179808/1/Artificial%20Organs%20-%202023%20-%20Massey%20-%20The%20effects%20of%20transcutaneous%20spinal%20cord%20stimulation%20delivered%20with%20and%20without.pdf
https://discovery.ucl.ac.uk/id/eprint/10179808/

Dye coupling of horizontal cells in the primate retina

Συγγραφείς: Pan, F, Massey, S

Συνεισφορές: School of Optometry, Research Centre for SHARP Vision

Θεματικοί όροι: Horizontal cells, Retina, Gap junction, Glutamate receptors

Relation: http://hdl.handle.net/10397/102015; 1173706; a2470, a2513; 47748, 47803

Διαθεσιμότητα: http://hdl.handle.net/10397/102015
https://doi.org/10.3389/fopht.2023.1173706

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

Συγγραφείς: Van Bergen, NJ, Massey, S, Quigley, A, Rollo, B, Harris, AR, Kapsa, RMI, Christodoulou, J

Relation: pii: 231684; http://hdl.handle.net/11343/317408

Διαθεσιμότητα: http://hdl.handle.net/11343/317408

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Συγγραφείς: Van Bergen, NJ, Hock, DH, Spencer, L, Massey, S, Stait, T, Stark, Z, Lunke, S, Roesley, A, Peters, H, Lee, JY, Le Fevre, A, Heath, O, Mignone, C, Yang, JY-M, Ryan, MM, D'Arcy, C, Nash, M, Smith, S, Caruana, NJ, Thorburn, DR, Stroud, DA, White, SM, Christodoulou, J, Brown, NJ

Relation: NHMRC/1140851; NHMRC/1140906; pii: ijms23020986; http://hdl.handle.net/11343/301884

Διαθεσιμότητα: http://hdl.handle.net/11343/301884

Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder

Συγγραφείς: Van Bergen, NJ, Massey, S, Stait, T, Ellery, M, Reljic, B, Formosa, LE, Quigley, A, Dottori, M, Thorburn, D, Stroud, DA, Christodoulou, J

Relation: NHMRC/1140851; NHMRC/1140906; Van Bergen, N. J., Massey, S., Stait, T., Ellery, M., Reljic, B., Formosa, L. E., Quigley, A., Dottori, M., Thorburn, D., Stroud, D. A. & Christodoulou, J. (2021). Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder. NEUROBIOLOGY OF DISEASE, 155, https://doi.org/10.1016/j.nbd.2021.105370.; http://hdl.handle.net/11343/281714

Διαθεσιμότητα: http://hdl.handle.net/11343/281714

Contextualising all-African peacekeeping : political and ethical dimensions

Συγγραφείς: Massey, S.

Θεματικοί όροι: 327, conflict intervention, conflict management, Organisation of Africa Union, Economic Community of West African States, Peacekeeping forces -- Africa

Σύνδεσμος πρόσβασης: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.273734

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

Συγγραφείς: Van Bergen, NJ, Ahmed, SM, Collins, F, Cowley, M, Vetro, A, Dale, RC, Hock, DH, De Caestecker, C, Minal, M, Massey, S, Gladys, H, Pisano, T, Glover, S, Gusman, J, Stroud, DA, Dinger, M, Guerrini, R, MacAra, IG, Christodoulou, J

Πηγή: urn:ISSN:0022-1007 ; urn:ISSN:1540-9538 ; Journal of Experimental Medicine, 217, 10, e20192040

Θεματικοί όροι: 32 Biomedical and Clinical Sciences, 42 Health Sciences, Neurosciences, Brain Disorders, Genetics, Pediatric, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Brain, Developmental Disabilities, Female, Humans, Infant, Newborn, Magnetic Resonance Imaging, Male, Microcephaly, Mutation, Neuroimaging, Pedigree, Sequence Analysis, DNA, Vesicular Transport Proteins, anzsrc-for: 32 Biomedical and Clinical Sciences, anzsrc-for: 42 Health Sciences, anzsrc-for: 11 Medical and Health Sciences

Περιγραφή αρχείου: application/pdf

Relation: https://hdl.handle.net/1959.4/unsworks_79119; https://doi.org/10.1084/JEM.20192040

Διαθεσιμότητα: https://hdl.handle.net/1959.4/unsworks_79119
https://unsworks.unsw.edu.au/bitstreams/18a8e02f-1604-4c95-a5b4-2e2533119fb5/download
https://doi.org/10.1084/JEM.20192040

The effects of adding transcutaneous Spinal Cord Stimulation (tSCS) to Sit-to-Stand training in people with Spinal Cord Injury: A pilot study

Συγγραφείς: Al'Joboori, Y, Massey, S, Knight, SL, Donaldson, N, Duffell, L

Πηγή: Journal of Clinical Medicine , 9 (9) , Article 2765. (2020)

Θεματικοί όροι: human, neuromodulation, neurorehabilitation, non-invasive, spinal cord injury, transcutaneous spinal cord stimulation

Περιγραφή αρχείου: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10108337/1/Duffell_vor_Al%27joboori%20et%20al.%202020%20JCM.pdf; https://discovery.ucl.ac.uk/id/eprint/10108337/

Διαθεσιμότητα: https://discovery.ucl.ac.uk/id/eprint/10108337/1/Duffell_vor_Al%27joboori%20et%20al.%202020%20JCM.pdf
https://discovery.ucl.ac.uk/id/eprint/10108337/

Synergism between the Black Queen effect and the proteomic constraint on genome size reduction in the photosynthetic picoeukaryotes

Συγγραφείς: Derilus, D., Rahman, M. Z., Pinero, F., Massey, S. E.

Πηγή: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

Διαθεσιμότητα: http://dx.doi.org/10.1038/s41598-020-65476-1
https://www.nature.com/articles/s41598-020-65476-1.pdf
https://www.nature.com/articles/s41598-020-65476-1

Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder

Συγγραφείς: Massey, S, Quigley, A, Rochfort, S, Christodoulou, J, Van Bergen, NJ

Όροι ευρετηρίου: Journal Article

Σύνδεσμος: https://hdl.handle.net/11343/358886

Novel CDKL5 targets identified in human iPSC-derived neurons

Συγγραφείς: Massey, S, Ang, CS, Davidson, NM, Quigley, A, Rollo, B, Harris, AR, Kapsa, RMI, Christodoulou, J, J. Van Bergen, N

Όροι ευρετηρίου: Journal Article

Σύνδεσμος: https://hdl.handle.net/11343/358419