المؤلفون: Elaine Zaunseder, Julian Teinert, Nikolas Boy, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Stefan Kölker, Ulrike Mütze, Vincent Heuveline

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 4, p 83 (2024)

مصطلحات موضوعية: artificial intelligence, data mining, Glutaric acidemia type 1, machine learning, neonatal screening, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/4/83; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/271310f0d31a46579dac0969c1242c50

المؤلفون: Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari

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/S1873506119302053; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/41717570b0b941e8bf0ac68810b4393e

المؤلفون: Miriam Wimmer, Darius Ebrahimi-Fakhari, Robert Behne, Julian Teinert

المصدر: Journal of Inherited Metabolic Disease. 43:51-62

مصطلحات موضوعية: Movement disorders, Hereditary spastic paraplegia, Developmental Disabilities, Central nervous system, Biology, Cataract, Epilepsy, Autophagy, Genetics, medicine, Humans, Vici syndrome, Cognitive decline, Child, Genetics (clinical), Spastic Paraplegia, Hereditary, Neurodegeneration, Brain, Proteins, Neurodegenerative Diseases, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Agenesis of Corpus Callosum, medicine.symptom, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f055a16d7adad06b9e527cedfd0cd9d2
https://doi.org/10.1002/jimd.12084

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72475bec4d66828ce338e15e047d9884
https://europepmc.org/articles/PMC7001721/

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