المؤلفون: Ina Schmitt, Oliver Brüstle, Rajech Sharkia, Kristina Rehbach, Stefan Herms, Jennifer Reichbauer, Feifei Tao, Peter De Jonghe, Susanne Greschus, Garth A. Nicholson, Alfredo Ramirez, Stefanie Heilmann-Heimbach, Ludger Schöls, Michael E. Shy, Thomas Klockgether, Paolo Carloni, Holger Wagner, Dagmar Timmann, Claudia Stendel, Delia Kurzwelly, Marina L. Kennerson, Matthis Synofzik, Patrick F. Chinnery, Wolfgang Maier, Stephan Züchner, Peter Bauer, Angela Pyle, Tim W. Rattay, Michael Peitz, Katrin Amunts, Burcu Atasu, Rüdiger Stirnberg, Holger Hengel, Jonathan Baets, Shawna M. E. Feely, Jürgen Kohlhase, Holger Thiele, M. Lennarz, Janine Altmüller, Ilker Karaca, Katherine D. Mathews, Muhammad Mahanjah, Tobias Lindig, Johanna Jung, Alejandro Giorgetti, Rebecca Schüle, Ebba Lohmann, Marc Sturm, Michael Wolf, Rita Horvath, Thomas Klopstock, Michael A. Gonzalez, Martina Minnerop, Peter Nürnberg, Anne S. Soehn, Sandra Roeske

المصدر: Brain
Brain 140(6), 1561-1578 (2017). doi:10.1093/brain/awx095

مصطلحات موضوعية: 0301 basic medicine, Gerontology, Male, leukodystrophy, POLR3A, cerebellar ataxia, hereditary spastic paraplegia, spastic ataxia, Medizin, Cell Culture Techniques, genetics [Introns], physiopathology [Spinocerebellar Ataxias], POLR3A protein, human, genetics [Muscle Spasticity], Compound heterozygosity, genetics [Optic Atrophy], 0302 clinical medicine, diagnostic imaging [Intellectual Disability], Spastic, genetics [Spinocerebellar Ataxias], Exome sequencing, Genetics, diagnostic imaging [Spastic Paraplegia, Hereditary], genetics [Exons], Middle Aged, Pedigree, Phenotype, Female, medicine.symptom, physiopathology [Optic Atrophy], Ataxia, diagnostic imaging [Optic Atrophy], diagnostic imaging [Spinocerebellar Ataxias], Hereditary spastic paraplegia, physiopathology [Intellectual Disability], Induced Pluripotent Stem Cells, Neurogenetics, Biology, 03 medical and health sciences, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], medicine, Humans, genetics [RNA Polymerase III], ddc:610, Genetic Association Studies, Aged, Cerebellar ataxia, physiopathology [Muscle Spasticity], Leukodystrophy, diagnostic imaging [Muscle Spasticity], RNA Polymerase III, modeling, Original Articles, medicine.disease, 030104 developmental biology, Mutation, Neurology (clinical), Human medicine, genetics [Intellectual Disability], 030217 neurology & neurosurgery

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5b4967b5395f39db1a93672e9e798bTest
https://hdl.handle.net/10067/1426480151162165141Test

المؤلفون: Haluk Topaloglu, Patrick F. Chinnery, Helen Griffin, Angela Pyle, Ayşegül Tokatlı, Beril Talim, Rita Horvath, Mauro Santibanez-Koref, Michael J. Keogh

المصدر: Brain. 136:e228-e228

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Mitochondrial translation, Respiratory chain, Disease, medicine.disease_cause, Irritability, Leukoencephalopathy, Thalamus, Leukoencephalopathies, medicine, Humans, Cytochrome c oxidase, Lactic Acid, Spasticity, Mutation, biology, business.industry, medicine.disease, Glutamate-tRNA Ligase, biology.protein, Female, Neurology (clinical), medicine.symptom, business, Brain Stem

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4267e9c519ba08f9c17f9e7bbfb696dTest
https://doi.org/10.1093Test/brain/aws197