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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: 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 -
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المؤلفون: Claudia Crimella, Giacomo P. Comi, Giovanni Meola, Maria Teresa Bassi, Andrea Martinuzzi, Consiglia Pacelli, Manuela Sironi, Alessandra Tonelli, Uberto Pozzoli, Nereo Bresolin, F. Crippa, Maria Grazia D'Angelo, Anna Carla Turconi, Gaetano Villani, Francesca Redaelli, Alessandra Renieri, Alessia Arnoldi, Chris Panzeri
المصدر: Human mutation. 29(4)
مصطلحات موضوعية: Adult, Male, DNA, Complementary, Adolescent, Hereditary spastic paraplegia, Mutant, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Mitochondrion, Biology, medicine.disease_cause, Cohort Studies, Genetics, medicine, Humans, Point Mutation, Child, Gene, Genetics (clinical), Sequence Deletion, Mutation, Electron Transport Complex I, Paraplegin, Base Sequence, Spastic Paraplegia, Hereditary, Point mutation, Haplotype, Metalloendopeptidases, Fibroblasts, Middle Aged, medicine.disease, Mitochondria, Muscle, Pedigree, paraplegin, SPG7, mitochondria, hereditary spastic paraplegia, complex I, Haplotypes, Italy, Codon, Nonsense, Child, Preschool, ATPases Associated with Diverse Cellular Activities, Settore MED/26 - Neurologia, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49caf9a4b7016e74421070b821c05bd2Test
https://pubmed.ncbi.nlm.nih.gov/18200586Test