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1دورية أكاديمية
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
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2
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
instnameمصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Mitochondrial Diseases, Muscle Weakness, business.industry, Ubiquinone, Biochemistry (medical), Clinical Biochemistry, Infant, Ubiquinone Deficiency, 030204 cardiovascular system & hematology, Fibroblasts, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, Humans, Ataxia, Coenzyme Q10 deficiency, business, Muscle, Skeletal
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3
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, 251-263مصطلحات 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
وصف الملف: pdf; application/pdf
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4دورية أكاديمية
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5دورية أكاديمية
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6
المؤلفون: Siegfried Hekimi, Aneal Khan, Christopher Smith, Micheil Innes, Ying Wang, Jillian S. Parboosingh
المصدر: Journal of Cellular and Molecular Medicine
مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Ubiquinone, Hearing loss, DNA Mutational Analysis, COQ7, Biology, medicine.disease_cause, DNA, Mitochondrial, Cell Line, Mixed Function Oxygenases, Mitochondrial Proteins, Consanguinity, 03 medical and health sciences, 0302 clinical medicine, Cytochrome P-450 Enzyme System, Polymorphism (computer science), mitochondrial dysfunction, Hydroxybenzoates, medicine, Animals, Humans, Child, Hearing Loss, Gene, primary ubiquinone deficiency, Mice, Knockout, Mutation, Base Sequence, Spastic Paraplegia, Hereditary, 2,4‐dihydroxybenzoic acid, Membrane Proteins, Original Articles, Cell Biology, Fibroblasts, Molecular biology, 3. Good health, 030104 developmental biology, Coenzyme Q – cytochrome c reductase, Molecular Medicine, Female, Original Article, Heterologous expression, coenzyme Q, medicine.symptom, 030217 neurology & neurosurgery
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7
المؤلفون: Audrey C. Woerner, Jerry Vockley
المصدر: The Journal of Pediatrics. 228:14-15.e1
مصطلحات موضوعية: medicine.medical_specialty, Mitochondrial Diseases, Muscle Weakness, Ataxia, Ubiquinone, business.industry, Mitochondrial disease, Muscle weakness, Ubiquinone Deficiency, medicine.disease, Endocrinology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Humans, medicine.symptom, Coenzyme Q10 deficiency, business
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8دورية أكاديمية
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9دورية أكاديمية
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10
المؤلفون: Manuel Jesús Acosta, Giuseppe Grandaliano, Sterpeta Diella, Luisa Murer, Mario Giordano, Eva Trevisson, Luisa Santangelo, Gian Marco Ghiggeri, Elena Ranieri, Matteo Accetturo, Maddalena Gigante, Gianluca Caridi, Loreto Gesualdo, Giovanna Finzi, Matilde Amatruda, Leonardo Salviati
المصدر: Clinical Genetics. 92:224-226
مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Yeast Model, Genetic heterogeneity, business.industry, 030232 urology & nephrology, Ubiquinone Deficiency, medicine.disease_cause, medicine.disease, Steroid-resistant nephrotic syndrome, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, COQ6, medicine, Coenzyme Q10 deficiency, business, Genetics (clinical), Ubiquinone Biosynthesis