-
1
المؤلفون: Catherine Jordan, Gregory Geisel, Mustafa Sahin, Julian E. Alecu, Darius Ebrahimi-Fakhari, Bo Zhang
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات 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 -
2
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 -
3
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 -
4
المؤلفون: Harley I. Kornblum, Bianca E. Russell, Darius Ebrahimi-Fakhari, Angelica D'Amore, Gregory Geisel, Kathrin Eberhardt, Marvin Ziegler, Mustafa Sahin
المصدر: Neurology: Genetics
article-version (Version of Record) 3مصطلحات موضوعية: 0301 basic medicine, Chromosome 7 (human), Microcephaly, Pathology, medicine.medical_specialty, business.industry, Hereditary spastic paraplegia, Silver–Russell syndrome, 030105 genetics & heredity, medicine.disease, Short stature, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Uniparental Isodisomy, Medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), Ventriculomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0559fddca77006fc91b8c9ff662f6aa1Test
https://doi.org/10.1212/nxg.0000000000000544Test -
5تقرير
المساهمون: Darius Ebrahimi-Fakhari, Principal Investigator
المصدر: Investigating the Genetic Basis of Hereditary Spastic Paraplegia
الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT05354622Test
-
6تقرير
المؤلفون: CureAP4 Foundation
المساهمون: Darius Ebrahimi-Fakhari, Director, Movement Disorders Program
المصدر: Registry and Natural History Study for Early Onset Hereditary Spastic Paraplegia (HSP)
الوصول الحر: https://clinicaltrials.gov/ct2/show/NCT04712812Test