نتائج البحث - "Ubiquinone deficiency"

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دورية أكاديمية

Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood

المؤلفون: Song Lu, Lin-Yu Lu, Meng-Fei Liu, Qiu-Ju Yuan, Mai-Har Sham, Xin-Yuan Guan, Jian-Dong Huang

المصدر: Neurobiology of Disease, Vol 45, Iss 1, Pp 219-233 (2012)

مصطلحات موضوعية: PDSS2, Ubiquinone deficiency, Cerebellum development, Apoptosis, Cell migration, Purkinje cell, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996111002609; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/29d18d2d51e540d9ab75af0dfa9d6a2a

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Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

المؤلفون: Angels García-Cazorla, Delia Yubero, Carlos Santos-Ocaña, Rafael Artuch, Abraham J Paredes-Fuentes, Raquel Montero, María Victoria Cascajo-Almenara, Natalia Juliá-Palacios

المساهمون: Instituto de Salud Carlos III

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e6b3da9f2f286e5d0503459f1bec89f
https://pubmed.ncbi.nlm.nih.gov/33141909

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Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients

المؤلفون: Gessica Vasco, Franco Taroni, A. Nazli Basak, Filippo M. Santorelli, Matthis Synofzik, Claire Ewenczyk, Michel Koenig, Ginevra Zanni, Bart P.C. van de Warrenburg, Selina Reich, Andreas Traschütz, Thomas Klopstock, Lydie Burglen, Enrico Bertini, Matthieu Bereau, Stefania Magri, Willem De Ridder, Anna Heinzmann, Stephanie Demuth, Hasmet Hanagasi, Jonathan Baets, Ute Grasshoff, David J. Pagliarini, Alexandra Durr, Craig A. Bingman, Tommaso Schirinzi, Lucia Laugwitz, Jan Kern, Christelle Rougeot, Hélène Puccio, Christos Ganos, Rita Horvath, Peter De Jonghe, Benjamin Bender, Ludger Schöls, Renato P. Munhoz, Tobias B. Haack, Mathieu Anheim, Felix Distelmaier, Alessandro Malandrini, Semra Hız Kurul, Nathan H. Murray

المساهمون: Başak, Ayşe Nazlı (ORCID 0000-0001-9257-3540 & YÖK ID 1512), Traschuetz, Andreas, Schirinzi, Tommaso, Laugwitz, Lucia, Murray, Nathan H., Bingman, Craig A., Reich, Selina, Kern, Jan, Heinzmann, Anna, Vasco, Gessica, Bertini, Enrico, Zanni, Ginevra, Durr, Alexandra, Magri, Stefania, Taroni, Franco, Malandrini, Alessandro, Baets, Jonathan, de Jonghe, Peter, de Ridder, Willem, Bereau, Matthieu, Demuth, Stephanie, Ganos, Christos, Hanagasi, Hasmet, Kurul, Semra Hız, Bender, Benjamin, Schoels, Ludger, Grasshoff, Ute, Klopstock, Thomas, Horvath, Rita, van de Warrenburg, Bart, Burglen, Lydie, Rougeot, Christelle, Ewenczyk, Claire, Koenig, Michel, Santorelli, Filippo M., Anheim, Mathieu, Munhoz, Renato P., Haack, Tobias, Distelmaier, Felix, Pagliarini, David J., Puccio, Helene, Synofzik, Matthis, Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM), School of Medicine, Traschütz, Andreas [0000-0002-8165-5898], Burglen, Lydie [0000-0002-1119-6809], Santorelli, Filippo M [0000-0002-1359-9062], Apollo - University of Cambridge Repository

المصدر: Annals of Neurology
Annals of neurology
Ann Neurol
Annals of Neurology, 88, 2, pp. 251-263
Annals of neurology 88(2), 251-263 (2020). doi:10.1002/ana.25751
Annals of Neurology, 88, 251-263

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Movement disorders, Ubiquinone, diagnostic imaging [Cerebellar Ataxia], Coenzyme Q(10), Cerebellar-ataxia, Ubiquinone deficiency, Kinase, Mutations, ADCK3, Progression, Idebenone, Protein Structure, Secondary, Cohort Studies, methods [Magnetic Resonance Imaging], 0302 clinical medicine, Child, Dystonia, genetics [Cerebellar Ataxia], chemistry [Ubiquinone], Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, genetics [Genetic Variation], 3. Good health, Neurology, Child, Preschool, Female, Cerebellar atrophy, Medicine, Clinical neurology, Neurosciences, medicine.symptom, Adult, medicine.medical_specialty, Ataxia, Adolescent, Cerebellar Ataxia, genetics [Mutation], Article, Young Adult, 03 medical and health sciences, Internal medicine, genetics [Ubiquinone], medicine, Humans, ddc:610, Aged, Cerebral atrophy, Cerebellar ataxia, Genetic Variation, medicine.disease, Hyperintensity, Cross-Sectional Studies, 030104 developmental biology, Mutation, Human medicine, Neurology (clinical), Myoclonus, 030217 neurology & neurosurgery