المؤلفون: Reza Maroofian, Andrea Gubaš, Rauan Kaiyrzhanov, Marcello Scala, Khalid Hundallah, Mariasavina Severino, Mohamed S. Abdel‐Hamid, Jill A. Rosenfeld, Darius Ebrahimi‐Fakhari, Zahir Ali, Fazal Rahim, Henry Houlden, Sharon A. Tooze, Norah Alsaleh, Maha S. Zaki

مصطلحات موضوعية: Functions and Regulation of RNA Editing by ADARs, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Role of Autophagy in Disease and Health, Epidemiology, Medicine, Health Sciences, Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins, Autophagy, Missense mutation, Microcephaly, Neurodevelopmental disorder, Compound heterozygosity, Sanger sequencing, Exome sequencing, Proband, Genetics, FOS Biological sciences, Biology, Phenotype, Mutation, Gene

العلاقة: https://dx.doi.org/10.60692/p9td8-25a35Test

الإتاحة: https://doi.org/10.60692/97e4s-xek0910.60692/p9td8-25a35Test

المؤلفون: Reza Maroofian (5237852), Andrea Gubas (6497186), Rauan Kaiyrzhanov (11494177), Marcello Scala (8362212), Khalid Hundallah (10792779), Mariasavina Severino (7304657), Mohamed S Abdel-Hamid (11494180), Jill A Rosenfeld (9291473), Darius Ebrahimi-Fakhari (511080), Zahir Ali (777469), Fazal Rahim (6296204), Henry Houlden (110428), Sharon A Tooze (8114291), Norah S Alsaleh (11494183), Maha S Zaki (8411898)

مصطلحات موضوعية: Model organisms, Biochemistry & Proteomics, Imaging, Signalling & Oncogenes, Cell Biology, Chemical Biology & High Throughput, autophagy, congenital disorders of autophagy, neurodevelopmental disorder, WIPI2, WIPI2b, Tooze FC001187

العلاقة: https://figshare.com/articles/journal_contribution/Homozygous_missense_WIPI2_variants_cause_a_congenital_disorder_of_autophagy_with_neurodevelopmental_impairments_of_variable_clinical_severity_and_disease_course_/16691851Test

الإتاحة: https://doi.org/10.25418/crick.16691851.v1Test

المؤلفون: Afshin Saffari (11588342), Julian Schröter (11752273), Sven F. Garbade (3700849), Julian E. Alecu (11752276), Darius Ebrahimi-Fakhari (511080), Georg F. Hoffmann (8690349), Stefan Kölker (757092), Markus Ries (213093), Steffen Syrbe (9341050)

مصطلحات موضوعية: Medicine, Genetics, Neuroscience, Beta-propeller protein-associated neurodegeneration, BPAN, congenital disorder of autophagy, DEE, NBIA, NBIA5, NDD, WDR45, WIPI4

العلاقة: https://figshare.com/articles/journal_contribution/Quantitative_retrospective_natural_history_modeling_of_i_WDR45_i_-related_developmental_and_epileptic_encephalopathy_a_systematic_cross-sectional_analysis_of_160_published_cases/17077963Test

الإتاحة: https://doi.org/10.6084/m9.figshare.17077963.v1Test

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: Alessandra Tessa, Filippo Maria Santorelli, Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari

العلاقة: https://zenodo.org/communities/irccs-medeaTest; https://zenodo.org/record/7429273Test; https://doi.org/10.5281/zenodo.7429273Test; oai:zenodo.org:7429273

الإتاحة: https://doi.org/10.5281/zenodo.7429273Test
https://doi.org/10.5281/zenodo.7429272Test
https://zenodo.org/record/7429273Test

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

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e1ce50d59c4d5ce07de719cb68a82e74Test
https://pubmed.ncbi.nlm.nih.gov/35557557Test