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1دورية أكاديمية
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 -
2
المؤلفون: Roberto Ceravolo, Daniela Frosini, Gabriele Bellini, Gabriele Siciliano, E Unti, Eleonora Del Prete
المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-6 (2021)
BMC Neurologyمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Neurological examination, SPG7, Atrophy, Case report, Medicine, Humans, Spasticity, Ataxic Gait, RC346-429, Aged, Nigrostriatal denervation, Dopamine Plasma Membrane Transport Proteins, medicine.diagnostic_test, Cerebellar ataxia, business.industry, Spastic Paraplegia, Hereditary, Limb ataxia, Metalloendopeptidases, General Medicine, Multiple system atrophy, medicine.disease, nervous system diseases, nervous system, DAT-SCAN imaging, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, business, Spastic paraplegia type 7
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e76b778643a83aa07ef9ddf7232e08Test
https://doaj.org/article/284fde4240e74a5fab5935c94ba2cd9dTest -
3دورية أكاديمية
المؤلفون: Coutelier, Marie, Coarelli, Giulia, Monin, Marie-Lorraine, Konop, Juliette, Davoine, Claire-Sophie, Tesson, Christelle, Valter, Rémi, Anheim, Mathieu, Behin, Anthony, Castelnovo, Giovanni, Charles, Perrine, David, Albert, Ewenczyk, Claire, Fradin, Mélanie, Goizet, Cyril, Hannequin, Didier, Labauge, Pierre, Riant, Florence, Sarda, Pierre, Sznajer, Yves, Tison, François, Ullmann, Urielle, Van Maldergem, Lionel, Mochel, Fanny, Brice, Alexis, Stevanin, Giovanni, Durr, Alexandra, SPATAX network
المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL
المصدر: Brain : a journal of neurology, Vol. 140, no.6, p. 1579-1594 (2017)
مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities, Adolescent, Adult, Age of Onset, Aged, 80 and over, Calcium Channels, Cerebellar Ataxia, Channelopathies, Child, Preschool, Cohort Studies, Female, Genes, Dominant, Genotype, Humans, Male, Metalloendopeptidases, Middle Aged, Phenotype, Young Adult, CACNA1A, SPG7
العلاقة: boreal:204630; http://hdl.handle.net/2078.1/204630Test; info:pmid/28444220; urn:ISSN:0006-8950; urn:EISSN:1460-2156
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4دورية أكاديمية
المؤلفون: Pfeffer, Gerald, Gorman, Gráinne S, Griffin, Helen, Kurzawa-Akanbi, Marzena, Blakely, Emma L, Wilson, Ian, Sitarz, Kamil, Moore, David, Murphy, Julie L, Alston, Charlotte L, Pyle, Angela, Coxhead, Jon, Payne, Brendan, Gorrie, George H, Longman, Cheryl, Hadjivassiliou, Marios, McConville, John, Dick, David, Imam, Ibrahim, Hilton, David, Norwood, Fiona, Baker, Mark R, Jaiser, Stephan R, Yu-Wai-Man, Patrick, Farrell, Michael, McCarthy, Allan, Lynch, Timothy, McFarland, Robert, Schaefer, Andrew M, Turnbull, Douglass M, Horvath, Rita, Taylor, Robert W, Chinnery, Patrick F
مصطلحات موضوعية: SPG7, chronic progressive external ophthalmoplegia, hereditary spastic paraplegia, mtDNA maintenance, paraplegin, ATPases Associated with Diverse Cellular Activities, Aged, Chronic Disease, DNA Mutational Analysis, DNA, Mitochondrial, Electric Stimulation, Electron Transport Complex IV, Evoked Potentials, Motor, Female, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Male, Metalloendopeptidases, Middle Aged, Mitochondrial Diseases, Muscle, Skeletal, Mutation, Ophthalmoplegia, Chronic Progressive External, Phenotype, Reaction Time
وصف الملف: Print-Electronic; application/pdf
الإتاحة: https://doi.org/10.17863/CAM.37590Test
https://www.repository.cam.ac.uk/handle/1810/290360Test -
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المؤلفون: Hongge Li, Lei Zhang, Yuanpeng Xia, Shengcai Chen, Gang Li, Yanqing Wu, Xiaoqian Zhang
المصدر: BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
BMC Neurologyمصطلحات موضوعية: 0301 basic medicine, Proband, Male, Candidate gene, Ataxia, Hereditary spastic paraplegia, Case Report, Hereditary spastic paraplegias, medicine.disease_cause, Compound heterozygosity, Polymorphism, Single Nucleotide, lcsh:RC346-429, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Asian People, Paraplegin, Next generation sequencing, medicine, Humans, Genetic Testing, Compound heterozygous SPG7 mutations, lcsh:Neurology. Diseases of the nervous system, Genetics, Paraplegia, Mutation, business.industry, Spastic Paraplegia, Hereditary, Metalloendopeptidases, General Medicine, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Genetic diagnosis, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f7c7bc20fef3f3c94eed1581d67f560Test
http://link.springer.com/article/10.1186/s12883-018-1199-9Test -
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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 -
7دورية أكاديمية
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
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المؤلفون: Pierre Sarda, Yves Sznajer, Florence Riant, Claire-Sophie Davoine, Christelle Tesson, Cyril Goizet, François Tison, Anthony Behin, Mélanie Fradin, Marie-Lorraine Monin, Giovanni Stevanin, Claire Ewenczyk, Rémi Valter, Pierre Labauge, Marie Coutelier, Urielle Ullmann, Didier Hannequin, Giulia Coarelli, Giovanni Castelnovo, Lionel Van Maldergem, Albert David, Mathieu Anheim, Alexis Brice, Perrine Charles, Alexandra Durr, Juliette Konop, Fanny Mochel
المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL
المصدر: Brain : a journal of neurology, Vol. 140, no.6, p. 1579-1594 (2017)
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Cerebellar Ataxia, Genotype, Genetic counseling, Biology, CACNA1A, SPG7, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, medicine, Humans, Spinocerebellar ataxia type 6, Age of Onset, Child, Aged, Genes, Dominant, Aged, 80 and over, Genetics, Cerebellar ataxia, Metalloendopeptidases, Middle Aged, channelopathies, medicine.disease, Phenotype, 030104 developmental biology, Child, Preschool, Spinocerebellar ataxia, ATPases Associated with Diverse Cellular Activities, Female, Calcium Channels, Neurology (clinical), Age of onset, medicine.symptom, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c656bebc0031bd764a0edabd2343d9Test
https://doi.org/10.1093/brain/awx081Test