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1
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 -
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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: Ludger Schöls, Isabelle Migeotte, Claire Sophie Davoine, Mélanie Papin, Pegah Masrori, Bart P.C. van de Warrenburg, Rebecca Schüle, Mathieu Anheim, Marc D'Hooghe, Elisabeth Ollagnon-Roman, Charles Duyckaerts, Claire Ewenczyk, Andrea Martinuzzi, Jonathan Baets, Marie Lorraine Monin, Giulia Coarelli, T Deconinck, Maria Grazia D'Angelo, Sophie Tezenas du Montcel, Alexis Brice, Thomas Klockgether, Delia Kurzwelly, Fanny Mochel, Perrine Charles, Peter De Jonghe, Elisa E.G. Hamer, Matthis Synofzik, B. Fontaine, Maria Teresa Bassi, Christoph Kamm, Danielle Seilhean, Giovanni Stevanin, Thomas Klopstock, Jan De Bleecker, Alexandra Durr, Guillaume Banneau
المساهمون: Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurochirurgie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hertie-Institute for Clinical Brain Research, Département de Neurologie, CHU Strasbourg, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Département de Biostatistique, Santé Publique et Information Médicale [CHU Pitié-Salpêtrière] (BIOSPIM ), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuropathologie [CHU Pitié Salpêtrière], Laboratoire de Neuropathologie Raymond Escourolle, Centre de Recherche en Myologie
المصدر: Neurology
Neurology, 92, e2679-e2690
Neurology, American Academy of Neurology, 2019, 92 (23), pp.e2679-e2690. ⟨10.1212/WNL.0000000000007606⟩
Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606
Neurology, 92, 23, pp. e2679-e2690
Neurology, 92 (23مصطلحات موضوعية: 0301 basic medicine, Male, physiopathology [Paraplegia], Gastroenterology, Cohort Studies, genetics [Metalloendopeptidases], 0302 clinical medicine, Loss of Function Mutation, Spastic, genetics [ATPases Associated with Diverse Cellular Activities], genetics [Cerebellar Ataxia], Metalloendopeptidases, Sensory loss, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, genetics [European Continental Ancestry Group], Phenotype, Cohort, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], medicine.symptom, physiopathology [Cerebellar Ataxia], Paraplegia, Adult, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, genetics [White People], SPG7 protein, human, Polymorphism, Single Nucleotide, Article, White People, genetics [Paraplegia], 03 medical and health sciences, Young Adult, Atrophy, Neurologie, Internal medicine, genetics [Spastic Paraplegia, Hereditary], physiopathology [Spastic Paraplegia, Hereditary], medicine, Humans, Spasticity, ddc:610, Cerebellar ataxia, business.industry, Electromyography, Spastic Paraplegia, Hereditary, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), Human medicine, business, 030217 neurology & neurosurgery
وصف الملف: 1 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad13a0fe5a53812528a1024662571ae0Test
https://hdl.handle.net/10067/1619380151162165141Test -
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المؤلفون: Marta Ferrero, G. De Michele, Elisa Pozzi, Gabriella Silvestri, L. Pradotto, Elisa Giorgio, Simona Cavalieri, Elisa Rubino, Cecilia Mancini, Filippo M. Santorelli, Antonella Antenora, Anna Rubegni, Alfredo Brusco, Melissa Barghigiani, Siro Bagnoli, Fabio Sirchia, Alessandro Mauro, Alessandro Filla, Patrizia Ferrero, S. Piacentini, Laura Orsi, Maurizio Zibetti, E. Di Gregorio, Paolo Prontera, Pasquale Nigro, Alessandra Tessa, Evelise Riberi
المساهمون: Mancini, C, Giorgio, E, Rubegni, A, Pradotto, L, Bagnoli, S, Rubino, E, Prontera, P, Cavalieri, S, Di Gregorio, E, Ferrero, M, Pozzi, E, Riberi, E, Ferrero, P, Nigro, P, Mauro, A, Zibetti, M, Tessa, A, Barghigiani, M, Antenora, A, Sirchia, F, Piacentini, S, Silvestri, G, De Michele, G, Filla, A, Orsi, L, Santorelli, Fm, Brusco, A
مصطلحات موضوعية: Male, Urinary urgency, hereditary ataxia, SCAR, Ala510Val, SPG7, paraplegin, spastic ataxia, Compound heterozygosity, Gastroenterology, Polymerase Chain Reaction, Cohort Studies, Dysarthria, 0302 clinical medicine, Prevalence, Medicine, 030212 general & internal medicine, Age of Onset, Sanger sequencing, Aged, 80 and over, Paraplegin, Homozygote, Metalloendopeptidases, Middle Aged, Phenotype, Neurology, Italy, symbols, Female, medicine.symptom, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Heterozygote, Ataxia, Cerebellar Ataxia, 03 medical and health sciences, symbols.namesake, Internal medicine, Humans, Genetic Association Studies, Aged, Ala510Valhereditary ataxiaparapleginautosomal recessive spinocerebellar ataxiasspastic ataxiaSPG7, Cerebellar ataxia, business.industry, Mutation, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f22badd62e6dfb7eea28f5a6eeed26eTest
http://hdl.handle.net/2318/1678964Test