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المؤلفون: Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler‐Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K. Fink, Linsley Smith, Jennifer E. Posey, Katharine E. Alter, Camilo Toro, Craig Blackstone, Ariane G. Soldatos, Michelle Christie, Rebecca Schüle, Darius Ebrahimi‐Fakhari
المصدر: Movement disorders 37(12), 2440-2446 (2022). doi:10.1002/mds.29225
Mov Disordمصطلحات موضوعية: Adult, cerebral palsy, Spastin, Adolescent, Spastic Paraplegia, Hereditary, childhood-onset movement disorders, Article, diagnosis [Spastic Paraplegia, Hereditary], Young Adult, Cross-Sectional Studies, Phenotype, Neurology, Muscle Spasticity, Child, Preschool, genetics [Spastic Paraplegia, Hereditary], Mutation, Humans, genetics [Spastin], SPAST, Neurology (clinical), ddc:610, hereditary spastic paraplegia, Child, neurogenetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb27dd83920485e0a4b88794a230e52cTest
https://pub.dzne.de/record/165247Test -
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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