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المؤلفون: Darius, Ebrahimi-Fakhari, Julian E, Alecu, Marvin, Ziegler, Gregory, Geisel, Catherine, Jordan, Angelica, D'Amore, Rebecca C, Yeh, Shyam K, Akula, Afshin, Saffari, Sanjay P, Prabhu, Mustafa, Sahin, Edward, Yang, Conny M A, van Ravenswaaij-Arts
المصدر: Neurology
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hereditary spastic paraplegia, business.industry, Spastic Paraplegia, Hereditary, Adaptor Protein Complex 4, Splenium, Anterior commissure, Neuroimaging, Status epilepticus, medicine.disease, Corpus callosum, Magnetic Resonance Imaging, Cerebral palsy, Corpus Callosum, White matter, medicine.anatomical_structure, medicine, Polymicrogyria, Humans, Neurology (clinical), medicine.symptom, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfcacb2aaf18a724159e2e69ac27c77Test
https://pubmed.ncbi.nlm.nih.gov/34544818Test -
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المؤلفون: James T. Bennett, Elisabeth Rosser, Kira A. Dies, Darius Ebrahimi-Fakhari, Danielle B. Pier, Conor S. Ryan, Jennifer Hirst, Chi Cheng, Amelia Diplock, Brendan C. Lanpher, Wendy K. Chung, Basil T. Darras, CureSPG, Mustafa Sahin
المصدر: American Journal of Medical Genetics Part A. 176:311-318
مصطلحات موضوعية: Diagnostic Imaging, Male, 0301 basic medicine, Microcephaly, Genotype, Hereditary spastic paraplegia, Adaptor Protein Complex 4, Compound heterozygosity, Bioinformatics, Corpus callosum, Cerebral palsy, 03 medical and health sciences, Genetics, medicine, Spastic, Humans, Genetic Predisposition to Disease, Spasticity, Child, Alleles, Genetic Association Studies, Genetics (clinical), Spastic Paraplegia, Hereditary, business.industry, Brain, Facies, medicine.disease, Magnetic Resonance Imaging, nervous system diseases, Phenotype, 030104 developmental biology, Child, Preschool, Mutation, Progressive spasticity, Female, Symptom Assessment, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb3bcead0fe03591f8e7fd8367c569b2Test
https://doi.org/10.1002/ajmg.a.38561Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e16bcaf88226cde8fedce925b8e3ea36Test
https://pubmed.ncbi.nlm.nih.gov/33294911Test