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1Academic Journal
المؤلفون: Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E. Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D. Buttermore, Lee Barrett, Georg H. H. Borner, Alexandra K. Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2
المؤلفون: Barbara Brechmann, Sandrine Vuillaumier-Barrot, Kathrin Eberhardt, Mohammad Ali Faghihi, Jennifer Hirst, Jan De Bleecker, Lee Barrett, Stéphane Auvin, Afshin Saffari, Filippo M. Santorelli, Julian E. Alecu, Bernt Popp, Sonja Neuser, Darius Ebrahimi-Fakhari, Alexandra K Davies, Angelica D'Amore, Parham Habibzadeh, Hellen Jumo, Edward Yang, Marvin Ziegler, Mustafa Sahin
المساهمون: Ebrahimi-Fakhari, D [0000-0002-0026-4714], Habibzadeh, P [0000-0002-2086-0425], Auvin, S [0000-0003-3874-9749], Popp, B [0000-0002-3679-1081], Yang, E [0000-0002-9912-4163], Apollo - University of Cambridge Repository
المصدر: Brain Communications
مصطلحات موضوعية: Hereditary spastic paraplegia, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, high-throughput imaging, Missense mutation, hereditary spastic paraplegia, 030304 developmental biology, 0303 health sciences, AcademicSubjects/SCI01870, General Engineering, Signal transducing adaptor protein, Adaptor Signaling Protein, medicine.disease, Subcellular localization, Molecular biology, Transmembrane protein, Biomarker (cell), Cytoplasm, biomarker, Original Article, AcademicSubjects/MED00310, adaptor protein complex 4, 030217 neurology & neurosurgery, functional assay
وصف الملف: application/pdf; application/zip
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3
المؤلفون: Edward Yang, Bernt Popp, Afshin Saffari, Sonja Neuser, Filippo M. Santorelli, Hellen Jumo, Julian E. Alecu, Marvin Ziegler, Mustafa Sahin, Kathrin Eberhardt, Lee Barrett, Darius Ebrahimi-Fakhari, Barbara Brechmann, Angelica D'Amore, Jennifer Hirst
المصدر: Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: Functional assay, Hereditary spastic paraplegia, business.industry, medicine, Signal transducing adaptor protein, Distribution (pharmacology), High throughput imaging, medicine.disease, business, Molecular biology
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4
المؤلفون: Henry Houlden, David A. Sweetser, Hesham Aldhalaan, Barry J. Byrne, Bruria Ben-Zeev, Gabriela M. Repetto, Bernt Popp, Yasemin Dincer, Karima Maher, Reza Maroofian, Omar Ismayl, Fowzan S. Alkuraya, Susanna Schubert, Wen-Hann Tan, Jens Meiler, Usha Kini, Parul Jayakar, Fatima Khan, Darius Ebrahimi-Fakhari, Stephanie Efthymiou, Gehad ElGhazali, Mais Hashem, Vijayalakshmi Salem Ramakumaran, Volker Mall, Robert J. Graham, Bat El Bar-Aluma, Maria Cecilia Poli, Rami Abou Jamra, Barbara Brechmann, Asma E. Al Nuaimi, Gali Heimer, Sonja Neuser, Amir Szeinberg, Ines Brösse, Christian Behrends, Angelika Seitz, Mandy Krumbiegel, Jennifer E. Posey, Amal Al Tenaiji, Lauren O’Grady, Michael Zech, Siddharth Srivastava, James R. Lupski, Basil T. Darras, Isabella Herman, Alistair T. Pagnamenta, Juliane Winkelmann, Shahnaz Ibrahim, Yael Haberman, Tatiana Muñoz
مصطلحات موضوعية: Male, Models, Molecular, Ataxia, Adolescent, Protein Conformation, Population, Mutation, Missense, Nerve Tissue Proteins, Neuroimaging, Disease, Biology, Bioinformatics, Cohort Studies, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Human Phenotype Ontology, Intellectual disability, Hereditary sensory and autonomic neuropathy, Genetics, medicine, Missense mutation, Humans, Family, Global developmental delay, Hereditary Sensory and Autonomic Neuropathies, education, Child, Genetics (clinical), 030304 developmental biology, education.field_of_study, 0303 health sciences, business.industry, 030305 genetics & heredity, Infant, Hyporeflexia, medicine.disease, Magnetic Resonance Imaging, Pedigree, ddc, Cross-Sectional Studies, Phenotype, Child, Preschool, Female, medicine.symptom, business, Carrier Proteins
وصف الملف: application/pdf
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5
المؤلفون: Miriam Wimmer, Mustafa Sahin, Henry Houlden, Elizabeth D. Buttermore, Joseph M. Scarrott, Antje Wiesener, Agathe Roubertie, Teresa Chen, Margaret S. Robinson, Sofia T. Duarte, Thomas Bourinaris, Robert Behne, Lee Barrett, Jonathan O. Lipton, Devorah Segal, James T. Bennett, Darius Ebrahimi-Fakhari, Jennifer Hirst, Julian Teinert, Andrea Martinuzzi, Kathrin Eberhardt, Angelica D'Amore, Filippo M. Santorelli, Barbara Brechmann, Georg H. H. Borner, Sean Dwyer, Ivy Pin-Fang Chen, Alexandra K Davies, Mimoun Azzouz
المصدر: Hum Mol Genet
مصطلحات موضوعية: Autophagosome, Male, Neurite, Adolescent, Protein subunit, Adaptor Protein Complex 4, Iron, Neurogenesis, Induced Pluripotent Stem Cells, Vesicular Transport Proteins, Autophagy-Related Proteins, Biology, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Genetics, medicine, Autophagy, Humans, Adaptor Protein Complex beta Subunits, Child, Molecular Biology, Genetics (clinical), 030304 developmental biology, Neurons, 0303 health sciences, Spastic Paraplegia, Hereditary, Neurodegeneration, Autophagosomes, Signal transducing adaptor protein, Adaptor Signaling Protein, Membrane Proteins, General Medicine, Fibroblasts, medicine.disease, Transport protein, Cell biology, Mitochondria, Protein Transport, Child, Preschool, Female, General Article, Microtubule-Associated Proteins, 030217 neurology & neurosurgery, trans-Golgi Network
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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
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