المؤلفون: Jessica P Wiseman, Joseph M Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Evangelia Karyka, Emily Dawes, Alexandra K Davies, Paolo M Marchi, Emily Graves, Fiona Fernandes, Zih-Liang Yang, Ian Coldicott, Jennifer Hirst, Christopher P Webster, J Robin Highley, Neil Hackett, Adrienn Angyal, Thushan de Silva, Adrian Higginbottom, Pamela J Shaw, Laura Ferraiuolo, Darius Ebrahimi-Fakhari, Mimoun Azzouz

المصدر: EMBO Molecular Medicine, Vol 16, Iss 11, Pp 2882-2917 (2024)

مصطلحات موضوعية: AAV, AP4B1, Gene Therapy, HSP, SPG47, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/7525f462e89f4274b18148dc6adcb126

المؤلفون: Ebrahimi-Fakhari, Darius, Teinert, Julian, Behne, Robert, Wimmer, Miriam, D'Amore, Angelica, Eberhardt, Kathrin, Brechmann, Barbara, Ziegler, Marvin, Jensen, Dana M., Nagabhyrava, Premsai, Geisel, Gregory, Carmody, Erin, Shamshad, Uzma, Dies, Kira A., Yuskaitis, Christopher J., Salussolia, Catherine L., Ebrahimi-Fakhari, Daniel, Pearson, Toni S., Saffari, Afshin, Ziegler, Andreas, Koelker, Stefan, Volkmann, Jens, Wiesener, Antje, Bearden, David R., Lakhani, Shenela, Segal, Devorah, Udwadia-Hegde, Anaita, Martinuzzi, Andrea, Hirst, Jennifer, Perlman, Seth, Takiyama, Yoshihisa, Xiromerisiou, Georgia, Vill, Katharina, Walker, William O., Shukla, Anju, Gupta, Rachana Dubey, Dahl, Niklas, Aksoy, Ayse, Verhelst, Helene, Delgado, Mauricio R., Pourova, Radka Kremlikova, Sadek, Abdelrahim A., Elkhateeb, Nour M., Blumkin, Lubov, Brea-Fernandez, Alejandro J., Dacruz-Alvarez, David, Smol, Thomas, Ghoumid, Jamal, Miguel, Diego, Heine, Constanze, Schlump, Jan-Ulrich, Langen, Hendrik, Baets, Jonathan, Bulk, Saskia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Lim-Melia, Elizabeth, Aydinli, Nur, Alanay, Yasemin, El-Rashidy, Omnia, Nampoothiri, Sheela, Patel, Chirag, Beetz, Christian, Bauer, Peter, Yoon, Grace, Guillot, Mireille, Miller, Steven P., Bourinaris, Thomas, Houlden, Henry, Robelin, Laura, Anheim, Mathieu, Alamri, Abdullah S., Mahmoud, Adel A. H., Inaloo, Soroor, Habibzadeh, Parham, Faghihi, Mohammad Ali, Jansen, Anna C., Brock, Stefanie, Roubertie, Agathe, Darras, Basil T., Agrawal, Pankaj B., Santorelli, Filippo M., Gleeson, Joseph, Zaki, Maha S., Sheikh, Sarah, I, Bennett, James T., Sahin, Mustafa

المصدر: Brain. 143(10):2929-2944

مصطلحات موضوعية: SPG47, SPG50, SPG51, SPG52, neurodegeneration

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-435414
https://doi.org/10.1093/brain/awz307

المؤلفون: Wiseman, Jessica P, Scarrott, Joseph M, Alves-Cruzeiro, João, Saffari, Afshin, Böger, Cedric, Karyka, Evangelia, Dawes, Emily, Davies, Alexandra K, Marchi, Paolo M, Graves, Emily, Fernandes, Fiona, Yang, Zih-Liang, Coldicott, Ian, Hirst, Jennifer, Webster, Christopher P, Highley, J Robin, Hackett, Neil, Angyal, Adrienn, Silva, Thushan de, Higginbottom, Adrian, Shaw, Pamela J, Ferraiuolo, Laura, Ebrahimi-Fakhari, Darius, Azzouz, Mimoun

مصطلحات موضوعية: AAV, AP4B1, Gene Therapy, HSP, SPG47, Animals, Genetic Therapy, Mice, Dependovirus, Disease Models, Animal, Spastic Paraplegia, Hereditary, Adaptor Protein Complex 4, Humans, Genetic Vectors, Adaptor Proteins, Vesicular Transport

وصف الملف: application/pdf; text/xml; application/zip

Relation: https://www.repository.cam.ac.uk/handle/1810/376059

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/376059

المؤلفون: Ivankovic, D, Drew, J, Lesept, F, White, IJ, López Doménech, G, Tooze, SA, Kittler, JT

المصدر: Autophagy (2019) (In press).

مصطلحات موضوعية: AP4B1, AP4E1, AP4M1, AP4S1, ER-phagy, SPG47, SPG51, mAtg9, reticulophagy, swelling, varicosities

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10075365/1/Drew_Axonal%20autophagosome%20maturation%20defect%20through%20failure%20of%20ATG9A%20sorting%20underpins%20pathology%20in%20AP-4%20deficiency%20syndrome_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10075365/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10075365/1/Drew_Axonal%20autophagosome%20maturation%20defect%20through%20failure%20of%20ATG9A%20sorting%20underpins%20pathology%20in%20AP-4%20deficiency%20syndrome_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10075365/

المؤلفون: James Drew, Josef T. Kittler, Sharon A. Tooze, Ian J White, Guillermo López-Doménech, Davor Ivankovic, Flavie Lesept

المصدر: Autophagy

مصطلحات موضوعية: 0301 basic medicine, Model organisms, reticulophagy, SPG47, ER-phagy, mAtg9, Autophagosome maturation, Adaptor Protein Complex 4, Cell, Reticulophagy, Vesicular Transport Proteins, Autophagy-Related Proteins, Biology, Endoplasmic Reticulum, AP4B1, Biochemistry & Proteomics, Imaging, 03 medical and health sciences, swelling, Signalling & Oncogenes, varicosities, medicine, Animals, SPG51, Molecular Biology, AP4S1, Mice, Knockout, Chemical Biology & High Throughput, 030102 biochemistry & molecular biology, Vesicle, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Autophagy, Sorting, Autophagosomes, AP4M1, Signal transducing adaptor protein, Membrane Proteins, Syndrome, Cell Biology, Transmembrane protein, Axons, Cell biology, AP4E1, Mice, Inbred C57BL, Protein Transport, 030104 developmental biology, medicine.anatomical_structure, trans-Golgi Network, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a88e42812a2bd05df9c51f46ab2fbd02

المؤلفون: Yoshihisa Takiyama, Stefanie Brock, Jennifer Hirst, Niklas Dahl, Radka Kremlikova Pourova, Andrea Martinuzzi, Seth Perlman, Helene Verhelst, Omnia Fathy El-Rashidy, Nour Elkhateeb, Sarah I. Sheikh, Jamal Ghoumid, Erin Carmody, Georgia Xiromerisiou, Diego Miguel, James T. Bennett, Barbara Brechmann, William O. Walker, David Dacruz-Álvarez, Mathieu Anheim, Dana M. Jensen, Stefan Kölker, Uzma Shamshad, Darius Ebrahimi-Fakhari, Grace Yoon, Katharina Vill, David Bearden, Adel A. Mahmoud, Sheela Nampoothiri, Devorah Segal, Antje Wiesener, Shenela Lakhani, Joseph G. Gleeson, Chirag Patel, Angelica D'Amore, Abdelrahim Abdrabou Sadek, Marvin Ziegler, Mustafa Sahin, Toni S. Pearson, Julian Teinert, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Lubov Blumkin, Jonathan Baets, Laura Robelin, Daniel Ebrahimi-Fakhari, Parham Habibzadeh, Anju Shukla, Peter O. Bauer, Saskia Bulk, Afshin Saffari, Elizabeth Lim-Melia, Michael C. Kruer, Christian Beetz, Andreas Ziegler, Pankaj B. Agrawal, Thomas Bourinaris, Filippo M. Santorelli, Mireille Guillot, Abdullah Alamri, Mohammad Ali Faghihi, Kathrin Eberhardt, Thomas Smol, Henry Houlden, Nur Aydinli, Constanze Heine, Soroor Inaloo, Anaita Udwadia-Hegde, Alejandro Brea-Fernández, Yasemin Alanay, Rachana Dubey Gupta, Ayse Aksoy, Agathe Roubertie, Jens Volkmann, Basil T. Darras, Hendrik Langen, Mauricio R. Delgado, Jan Ulrich Schlump, Gregory Geisel, Anna Jansen, Somayeh Bakhtiari, Steven P. Miller, Miriam Wimmer, Maha S. Zaki, Premsai Nagabhyrava, Robert Behne, Hossein Darvish

المساهمون: Acibadem University Dspace

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, SPG47, Microcephaly, Pediatrics, medicine.medical_specialty, Adolescent, Hereditary spastic paraplegia, Adaptor Protein Complex 4, Cerebral palsy, Corpus Callosum, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Spastic diplegia, medicine, SPG51, Humans, SPG50, Registries, SPG52, Child, Tetraplegia, business.industry, Spastic Paraplegia, Hereditary, neurodegeneration, Infant, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Corrigenda, Hypotonia, 030104 developmental biology, Cross-Sectional Studies, Child, Preschool, Speech delay, Female, Neurology (clinical), Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Ventriculomegaly

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16bcaf88226cde8fedce925b8e3ea36
https://pubmed.ncbi.nlm.nih.gov/33294911

المؤلفون: Ebrahimi-Fakhari, Darius, Cheng, Chi, Dies, Kira, Diplock, Amelia, Pier, Danielle B, Ryan, Conor S, Lanpher, Brendan C, Hirst, Jennifer, Chung, Wendy K, Sahin, Mustafa, Rosser, Elisabeth, Darras, Basil, Bennett, James T, CureSPG47

مصطلحات موضوعية: AP4B1, SPG47, cerebral palsy, hereditary spastic paraplegia, intellectual disability, microcephaly, seizures, thin corpus callosum, Adaptor Protein Complex 4, Alleles, Brain, Child, Preschool, Diagnostic Imaging, Facies, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Magnetic Resonance Imaging, Male, Mutation, Phenotype, Spastic Paraplegia, Hereditary, Symptom Assessment

وصف الملف: Print-Electronic; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/274300

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/274300
https://doi.org/10.17863/CAM.21425