المؤلفون: Afshin Saffari, Darius Ebrahimi-Fakhari, Phillip L. Pearl

المصدر: Mol Genet Metab

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Hereditary spastic paraplegia, Endocrinology, Diabetes and Metabolism, Genetic counseling, 030105 genetics & heredity, Biochemistry, Cerebrotendinous Xanthomatosis, Article, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Spastic diplegia, Genetics, Medicine, Spasticity, Molecular Biology, business.industry, Biotinidase deficiency, medicine.disease, nervous system diseases, Inborn error of metabolism, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::520a0a7aee76343476f0479642767bbaTest
https://doi.org/10.1016/j.ymgme.2021.06.006Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565d14b139dcc05a846c785c59bacfeTest

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 Disord

مصطلحات 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

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::aebd838dc49f508e536a283eee569349Test
https://doi.org/10.1055/s-0041-1739686Test

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

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f055a16d7adad06b9e527cedfd0cd9d2Test
https://doi.org/10.1002/jimd.12084Test

المؤلفون: Catherine Jordan, Gregory Geisel, Mustafa Sahin, Julian E. Alecu, Darius Ebrahimi-Fakhari, Bo Zhang

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: medicine.medical_specialty, Hereditary spastic paraplegia, Article, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Disease severity, Quality of life, Rating scale, Spastic, Medicine, Genetics (clinical), 0303 health sciences, business.industry, 030305 genetics & heredity, Motor impairment, medicine.disease, Physical therapy, Neurology (clinical), business, Paraplegia, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bf4e98223173587ef9eb99a8b4e563aTest
https://pubmed.ncbi.nlm.nih.gov/34295967Test

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

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

المصدر: Stem Cell Res
Stem Cell Research, Vol 53, Iss, Pp 102335-(2021)

مصطلحات موضوعية: Heterozygote, QH301-705.5, Hereditary spastic paraplegia, Adaptor Protein Complex 4, Cellular differentiation, Induced Pluripotent Stem Cells, Embryoid body, Article, medicine, Humans, Biology (General), Allele, Child, Induced pluripotent stem cell, biology, Spastic Paraplegia, Hereditary, Cerebral Palsy, Heterozygote advantage, Cell Biology, General Medicine, biology.organism_classification, medicine.disease, Sendai virus, Cancer research, Reprogramming, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c72333093b660b2cfa64e687c7f291aTest
https://doi.org/10.1016/j.scr.2021.102335Test

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