المؤلفون: Tamara Pringsheim, Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi‐Fakhari, Jennifer Friedman, Jean‐Pierre Lin, Jonathan Mink, Alexander Munchau, Daniela Munoz, Nardo Nardocci, Belen Perez‐Dueñas, Zomer Sardar, Chahnez Triki, Hilla Ben‐Pazi, Laura Silveira‐Moriyama, Monica Troncoso‐Schifferli, Kyoko Hoshino, Russell C. Dale, Victor S.C. Fung, Manju A. Kurian, Emmanuel Roze

المساهمون: Institut Català de la Salut, [Pringsheim T] Department of Clinical Neurosciences, Psychiatry, Pediatrics and Community Health Sciences, University of Calgary, Calgary, AB, Canada. [Batla A] Department of Clinical and Movement Neuroscience, UCL Queen Square Institute of Neurology, London, UK. [Shalash A] Department of Neurology, Faculty of medicine, Ain Shams Univeristy, Cairo, Egypt. [Sahu JK] Pediatric Neurology Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India. [Cosentino C] Department of Neurodegenerative Diseases, Instituto Nacional de Ciencias Neurologicas and School of Medicine, Universidad Nacional Mayor de San Marcos, Lima, Peru. [Ebrahimi-Fakhari D] Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA. [Perez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Centre for Biomedical Research of Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Nervous System Diseases::Central Nervous System Diseases::Movement Disorders [DISEASES], Neurology, Trastorns motors, técnicas de investigación::métodos epidemiológicos::recopilación de datos::encuestas y cuestionarios [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], personas::Grupos de Edad::niño [DENOMINACIONES DE GRUPOS], enfermedades del sistema nervioso::enfermedades del sistema nervioso central::trastornos del movimiento [ENFERMEDADES], Neurology (clinical), Persons::Age Groups::Child [NAMED GROUPS], Infants, Enquestes

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08ed9f4656ceb2a51243c736588d1d8Test
https://doi.org/10.1002/mdc3.13728Test

المؤلفون: Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S. Bonifacino, Darius Ebrahimi-Fakhari, Steven J. Gray

المصدر: Journal of Clinical Investigation. 133

مصطلحات موضوعية: General Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b9aaf6873ff9f8a3da531d0b5691706eTest
https://doi.org/10.1172/jci164575Test

المؤلفون: Julian E. Alecu, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Oleksandr Strelko, Catherine A. Brownstein, Joseph Gonzalez‐Heydrich, Lance H. Rodan, Mark P. Gorman, Mustafa Sahin, Darius Ebrahimi‐Fakhari

المصدر: Annals of Clinical and Translational Neurology. 9:570-576

مصطلحات موضوعية: Adolescent, Psychotic Disorders, Calpain, Spastic Paraplegia, Hereditary, General Neuroscience, Mutation, Humans, Neurology (clinical), Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::612adc392c1c5caabd22387c8177f59eTest
https://doi.org/10.1002/acn3.51531Test

المؤلفون: Sven F. Garbade, Darius Ebrahimi-Fakhari, Markus Ries, Stefan Kölker, Steffen Syrbe, Georg F. Hoffmann, Afshin Saffari, Julian E. Alecu, Julian Schröter

المصدر: Autophagy

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Delayed Diagnosis, Neurodegeneration with brain iron accumulation, Disease, Biology, WDR45, Neurodevelopmental disorder, Epidemiology, Autophagy, medicine, Humans, Cognitive decline, Molecular Biology, Retrospective Studies, Brain Diseases, Infant, Cell Biology, medicine.disease, Natural history, Cross-Sectional Studies, Cohort, Female, Carrier Proteins, Research Paper

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70e03353ab9e9452a4d53bd0a3a036dTest
https://doi.org/10.1080/15548627.2021.1990671Test

المؤلفون: Avaneesh R, Kunta, Jeremy, Jueng, Catherine, Jordan, Jasna, Kojic, Alisa, Mo, Darius, Ebrahimi-Fakhari

المصدر: Neurology. Genetics. 8(6)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::0879f7c0552b023ab98cc29ebe281a67Test
https://pubmed.ncbi.nlm.nih.gov/36524102Test

المؤلفون: Julian E Alecu, Afshin Saffari, Catherine Jordan, Siddharth Srivastava, Craig Blackstone, Darius Ebrahimi-Fakhari

المصدر: Human molecular genetics.

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0401dd38468536137ca35e2e6d8d70Test
https://pubmed.ncbi.nlm.nih.gov/35925862Test

المؤلفون: Xiaofan Yang, Hongqiang Yin, Xiaojing Wang, Yueqing Sun, Xianli Bian, Gaorui Zhang, Anning Li, Aihua Cao, Baomin Li, Darius Ebrahimi-Fakhari, Zhuo Yang, Miriam H. Meisler, Qiji Liu

المصدر: Frontiers in Molecular Neuroscience. 15

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::55136575433d0cb731b99e61e6eb3f20Test
https://doi.org/10.3389/fnmol.2022.822129Test

المؤلفون: Alexandra K. Davies, Julian E. Alecu, Marvin Ziegler, Catherine G. Vasilopoulou, Fabrizio Merciai, Hellen Jumo, Wardiya Afshar-Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari, Georg H. H. Borner

المصدر: Nature Communications

مصطلحات موضوعية: Neurons, Multidisciplinary, Adaptor Protein Complex 4, General Physics and Astronomy, General Chemistry, Axonal Transport, Axons, Monoacylglycerol Lipases, General Biochemistry, Genetics and Molecular Biology, Mice, nervous system, Animals, Humans, Endocannabinoids

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c62f9fd46a43680a8f634506450a2b5Test
https://doi.org/10.1038/s41467-022-28609-wTest

المؤلفون: Avaneesh R. Kunta, Jeremy Jueng, Catherine Jordan, Jasna Kojic, Alisa Mo, Darius Ebrahimi-Fakhari

المصدر: Neurology Genetics. 8:e200041

مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f893b8eac0e1f4d4d9d946218c258955Test
https://doi.org/10.1212/nxg.0000000000200041Test

المؤلفون: Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava

المصدر: Annals of clinical and translational neurology. 9(2)

مصطلحات موضوعية: Cohort Studies, Male, Adolescent, General Neuroscience, Cerebral Palsy, Child, Preschool, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Neurology (clinical), Child

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36d693dc0df3bfd8751dd36e957feac1Test
https://pubmed.ncbi.nlm.nih.gov/35076175Test