المساهمون: Yuri Seo, Hyun Taek Lim, Byung Joo Lee, Jinu Han, Seo, Yuri

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities / genetics, Adolescent, Humans, Male, Metalloendopeptidases / genetics, Mutation, Optic Atrophy* / diagnosis, Optic Atrophy* / genetics, Optic Atrophy* / pathology, Optic Atrophy, Autosomal Dominant, Paraplegia / genetics, Phenotype, Spastic Paraplegia, Hereditary* / complications, Hereditary* / diagnosis, Hereditary* / genetics, SPG7, autosomal dominant optic atrophy, infantile nystagmus syndrome

العلاقة: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; J00091; OAK-2023-00601; OAK-2023-00602; https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059Test; T202301866; AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol.191(2) : 582-585, 2023-02

الإتاحة: https://doi.org/10.1002/ajmg.a.63037Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/194059Test

المؤلفون: Ludger Schöls, Stephan Gierer, Stephan Züchner, Claudia Schulte, Matthis Synofzik, Rebecca Schüle, Dietmar Rudolf Thal

المصدر: International Journal of Molecular Sciences
International journal of molecular sciences 16(10), 25050-25066 (2015). doi:10.3390/ijms161025050
Volume 16
Issue 10
Pages 25050-25066
International Journal of Molecular Sciences, Vol 16, Iss 10, Pp 25050-25066 (2015)

مصطلحات موضوعية: Male, pathology [Spinocerebellar Ataxias], Cerebellum, Pathology, pathology [Spastic Paraplegia, Hereditary], pathology [Optic Atrophy], genetics [Muscle Spasticity], lcsh:Chemistry, genetics [Optic Atrophy], genetics [Metalloendopeptidases], Gene Frequency, Inferior olivary nucleus, pathology [Neurons], genetics [Spinocerebellar Ataxias], metabolism [alpha-Synuclein], tau, Gliosis, lcsh:QH301-705.5, Spectroscopy, Neurons, paraplegin, education.field_of_study, Paraplegin, pathology [Olivary Nucleus], Metalloendopeptidases, metabolism [Neurites], Neurofibrillary Tangles, General Medicine, Computer Science Applications, Substantia Nigra, medicine.anatomical_structure, Cerebellar Nuclei, Muscle Spasticity, Cerebral cortex, Basal Nucleus of Meynert, ddc:540, alpha-Synuclein, Spinocerebellar ataxia, genetics [Gliosis], pathology [Muscle Spasticity], medicine.medical_specialty, spastic paraplegia, Hereditary spastic paraplegia, Population, SPG7 protein, human, tau Proteins, Olivary Nucleus, Biology, pathology [Basal Nucleus of Meynert], pathology [Intellectual Disability], Article, SPG7, Catalysis, Inorganic Chemistry, pathology [Cerebellar Nuclei], genetics [Spastic Paraplegia, Hereditary], Intellectual Disability, Neurites, medicine, biosynthesis [Metalloendopeptidases], Humans, Spinocerebellar Ataxias, SNCA protein, human, Physical and Theoretical Chemistry, education, Molecular Biology, pathology [Substantia Nigra], Aged, pathology [Lewy Bodies], Spastic Paraplegia, Hereditary, ataxia, Organic Chemistry, medicine.disease, metabolism [tau Proteins], spastic ataxia, Optic Atrophy, Dentate nucleus, lcsh:Biology (General), lcsh:QD1-999, nervous system, neurofibrillary tangles, coiled bodies, genetics [Gene Frequency], ATPases Associated with Diverse Cellular Activities, Lewy Bodies, pathology [Neurofibrillary Tangles], genetics [Intellectual Disability], Lewy bodies

وصف الملف: application/pdf; Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1c63a3dea9936bfc9d799e2512a728Test
https://doi.org/10.3390/ijms161025050Test

المؤلفون: Coarelli, Giulia, Schule, Rebecca, Schöls, Ludger, Deconinck, Tine, Masrori, Pegah, Fontaine, Bertrand, Klockgether, Thomas, D'Angelo, Maria Grazia, Monin, Marie-Lorraine, De Bleecker, Jan, Migeotte, Isabelle, Charles, Perrine, van de Warrenburg, Bart P C, Bassi, Maria Teresa, Klopstock, Thomas, Mochel, Fanny, Ollagnon-Roman, Elisabeth, D'Hooghe, Marc, Kamm, Christoph, Kurzwelly, Delia, Papin, Melanie, Davoine, Claire-Sophie, Banneau, Guillaume, De Jonghe, Peter, Tezenas du Montcel, Sophie, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, Stevanin, Giovanni, Durr, Alexandra, Ewenczyk, Claire, Martinuzzi, Andrea, Synofzik, Matthis, Hamer, Elisa G, Baets, Jonathan, Anheim, Mathieu

المصدر: Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, White People: genetics, ATPases Associated with Diverse Cellular Activities: genetics, Adult, Cerebellar Ataxia: genetics, Cerebellar Ataxia: physiopathology, Cohort Studies, Electromyography, European Continental Ancestry Group: genetics, Female, Humans, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Metalloendopeptidases: genetics, Middle Aged, Paraplegia: genetics, Paraplegia: physiopathology, Phenotype, Polymorphism, Single Nucleotide, Spastic Paraplegia, Hereditary: genetics, Hereditary: physiopathology, Young Adult, Metalloendopeptidases, SPG7 protein, human, ATPases Associated with Diverse Cellular Activities

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/pmid/pmid:31068484; info:eu-repo/semantics/altIdentifier/issn/0028-3878; https://pub.dzne.de/record/140892Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-07214%22Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000007606Test
https://pub.dzne.de/record/140892Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-07214%22Test