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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 (23

مصطلحات 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

8

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

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

9

Expanded phenotype in a patient with spastic paraplegia 7

المؤلفون: Jennifer Gass, Jessica Jackson, Sarah Macklin, Paldeep S. Atwal, Jay A. van Gerpen, Patrick R. Blackburn

المصدر: Clinical Case Reports

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d76a22ac907a2719418a268ded8eb83aTest
http://europepmc.org/articles/PMC5628248Test

10

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

المؤلفون: Koen L.I. van Gassen, Jan H. Veldink, Bart P.C. van de Warrenburg, Leonard H. van den Berg, Charlotte D. C. C. van der Heijden, Hubertus P. H. Kremer, Erik-Jan Kamsteeg, Susanne T. de Bot, Corien C. Verschuuren-Bemelmans, Wilfred F. A. den Dunnen, Hans Scheffer

المساهمون: Molecular Neuroscience and Ageing Research (MOLAR)

المصدر: Brain, 135, 2994-3004
Brain, 135, Pt 10, pp. 2994-3004
Brain, 135, 2994-3004. Oxford University Press
Brain; Vol 135

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, Genotype, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, Biology, OPA1, SPG7, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, 03 medical and health sciences, paraplegia, 0302 clinical medicine, Atrophy, MITOCHONDRIA, Optic Nerve Diseases, medicine, Missense mutation, Humans, Spasticity, Angiopoietin-Like Protein 6, Genetic Association Studies, 030304 developmental biology, Netherlands, Genetics, 0303 health sciences, Cerebellar ataxia, MUTATIONS, Spastic Paraplegia, Hereditary, ataxia, M-AAA PROTEASE, spasticity, Metalloendopeptidases, DEGENERATION, IMPAIRMENT, medicine.disease, Angiopoietin-like Proteins, Phenotype, Mutation, Spinocerebellar ataxia, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), medicine.symptom, Spastic paraplegia type 7, Angiopoietins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dd98982a16b77e725b17203ccc162d9Test
https://pubmed.ncbi.nlm.nih.gov/22964162Test

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