يعرض 1 - 10 نتائج من 16 نتيجة بحث عن '"Julian E. Alecu"', وقت الاستعلام: 0.93s تنقيح النتائج
  1. 1
    دورية أكاديمية
    High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

    المؤلفون: Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E. Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D. Buttermore, Lee Barrett, Georg H. H. Borner, Alexandra K. Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin

    المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

    مصطلحات موضوعية: Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2041-1723

    URL الوصول: https://doaj.org/article/b52e18bceed849439f7ec10f0de5714b

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  2. 2
    دورية أكاديمية
    Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

    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, Vol 9, Iss 4, Pp 570-576 (2022)

    مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2328-9503

    URL الوصول: https://doaj.org/article/bd9ac96ba7784ffe922a498c0ba724e9

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  3. 3
    دورية أكاديمية
    AP-4-mediated axonal transport controls endocannabinoid production in neurons

    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, Vol 13, Iss 1, Pp 1-17 (2022)

    مصطلحات موضوعية: Science

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2041-1723

    URL الوصول: https://doaj.org/article/97b080cc62e14bdea601680868183e75

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  4. 4
    دورية أكاديمية
    Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

    المؤلفون: Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, Julian E. Alecu, Marvin Ziegler, Wardiya Afshar Saber, Mustafa Sahin, Darius Ebrahimi-Fakhari

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

    مصطلحات موضوعية: Biology (General), QH301-705.5

    وصف الملف: electronic resource

    Relation: http://www.sciencedirect.com/science/article/pii/S1873506121001811; https://doaj.org/toc/1873-5061

    URL الوصول: https://doaj.org/article/1a2c2c1c2a2c4516bb17492ea7c051c7

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  5. 5
    Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

    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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::612adc392c1c5caabd22387c8177f59e
    https://doi.org/10.1002/acn3.51531

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  6. 6
    Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy – a systematic cross-sectional analysis of 160 published cases

    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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70e03353ab9e9452a4d53bd0a3a036d
    https://doi.org/10.1080/15548627.2021.1990671

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  7. 7
    De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations

    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)

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0401dd38468536137ca35e2e6d8d70
    https://pubmed.ncbi.nlm.nih.gov/35925862

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  8. 8
    High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

    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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e565d14b139dcc05a846c785c59bacfe

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  9. 9
    Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson’s disease

    المؤلفون: Iryna Prots, Julian E. Alecu, Beate Winner, Razvan Marius Brazdis, Annika Dahms, Wei Xiang, Laurent Roybon, Sandra Lörentz, Daniel Marsch, Anna Brendler, Katrin Simmnacher, Yanni Schneider, Franz Marxreiter

    المصدر: Human Molecular Genetics

    مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Parkinson's disease, Neurology, Induced Pluripotent Stem Cells, Substantia nigra, Biology, medicine.disease_cause, Cell Line, Midbrain, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Mesencephalon, Neurites, Genetics, medicine, Humans, Induced pluripotent stem cell, Molecular Biology, Genetics (clinical), Alpha-synuclein, Cell Death, Dopaminergic Neurons, Dopaminergic, Brain, Cell Differentiation, Parkinson Disease, General Medicine, medicine.disease, Substantia Nigra, Oxidative Stress, 030104 developmental biology, nervous system, chemistry, alpha-Synuclein, General Article, Neuroscience, 030217 neurology & neurosurgery, Oxidative stress

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd8807a6a6de4f467f296ca3822dffd8
    https://doi.org/10.1093/hmg/ddaa039

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  10. 10
    High-Throughput Imaging of ATG9A Distribution as a Diagnostic Functional Assay for Adaptor Protein Complex 4: Associated Hereditary Spastic Paraplegia (AP-4-HSP)

    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

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::aebd838dc49f508e536a283eee569349
    https://doi.org/10.1055/s-0041-1739686

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