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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 -
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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